1,499 results on '"Maschan, A."'
Search Results
152. PEMANFAATAN TEKNOLOGI MEMBRAN REVERSE OSMOSIS (RO) UNTUK PENGOLAHAN AIR BERSIH DI KAMPUNG NELAYAN, DESA KEDUNGPANDAN, KECAMATAN JABON, KABUPATEN SIDOARJO
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Irwanto, Bagus, primary, Musthofa, Maschan Yusuf, additional, Kumalasari, Altara Dea, additional, Rahayu, Dwi Putri, additional, Fauzia, Yunia, additional, Maulidin, Ahmad Agung, additional, Maulita A, Hariarti, additional, Rahayu, Lasmida, additional, Noeriandriko S, Dzulfikar, additional, Mufarrochah, Mufarrochah, additional, and Azizah, Zahrotul, additional
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- 2023
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153. Accelerated death of megakaryocytes from Wiskott–Aldrich syndrome patients
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Obydennyi, Sergei I., primary, Kuznetsova, Sofya A., additional, Fedyanina, Olga S., additional, Khoreva, Anna, additional, Voronin, Kirill, additional, Mazurov, Alexey V., additional, Glukhova, Anna A., additional, Artemenko, Elena O., additional, Ataullakhanov, Fazoil I., additional, Maschan, Alexey A., additional, Novichkova, Galina A., additional, Shcherbina, Anna, additional, and Panteleev, Mikhail A., additional
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- 2023
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154. Acute graft-versus-host disease following allogeneic hematopoietic stem cell transplantation
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Skvortsova, Yu. V., primary and Maschan, A. A., additional
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- 2023
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155. Kaposiform lymphangiomatosis with Kasabach–Merritt phenomenon
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Khachatryan, L. A., primary, Novichkova, G. A., additional, Vasilieva, M. S., additional, Kletskaya, I. S., additional, Scherbakov, A. P., additional, and Maschan, A. A., additional
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- 2023
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156. Extramedullary involvement in pediatric myeloid leukemia: challenges of diagnosis and treatment. Clinical cases and a literature review
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Dinikina, Yu. V., primary and Maschan, A. A., additional
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- 2023
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157. The role of plerixafor in conditioning regimens before unmanipulated bone marrow transplantation in patients with Wiscott–Aldrich syndrome
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Balashov, D. N., primary, Laberko, A. L., additional, Sultanova, E. R., additional, Idarmacheva, A. K., additional, Radygina, S. A., additional, Skvortsova, Yu. V., additional, Kozlovskaya, S. N., additional, and Maschan, M. A., additional
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- 2023
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158. Guidelines for the flow cytometric minimal residual disease monitoring in B-lineage acute lymphoblastic leukemia after CD19-directed immunotherapy
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Mikhailova, E. V., primary, Illarionova, O. I., additional, Maschan, M. A., additional, Novichkova, G. A., additional, Karachunskiy, A. I., additional, and Popov, A. M., additional
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- 2023
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159. BARNASE-BARSTAR SPECIFIC INTERACTION REGULATES CAR-T CELLS CYTOTOXIC ACTIVITY TOWARD MALIGNANCY
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Kalinin, Roman S., primary, Shipunova, Victoria O., additional, Rubtsov, Yuri P., additional, Ukrainskay, Valeria M., additional, Schulga, Alexey, additional, Konovalova, Elena V., additional, Volkov, Dmitry V., additional, Yaroshevich, Igor A., additional, Moysenovich, Anastasiia M., additional, Belogurov, Alexey A., additional, Telegin, Georgij B., additional, Chernov, Alexandr S., additional, Maschan, Mikhail A., additional, Terekhov, Stanislav S., additional, Knorre, Vera D., additional, Khurs, Elena, additional, Gnuchev, Nikolay V., additional, Gabibov, Alexander G., additional, and Deyev, Sergey M., additional
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- 2023
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160. Low specificity of HLA-DR expression for diagnosis of acute promyelocytic leukemia
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E. V. Mikhailova, N. S. Mochalova, S. A. Kashpor, E. A. Zerkalenkova, T. V. Konyukhova, S. A. Plyasunova, Yu. V. Olshanskaya, I. I. Kalinina, M. A. Maschan, A. A. Maschan, G. A. Novichkova, and A. M. Popov
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Oncology ,Immunology ,Pediatrics, Perinatology and Child Health ,Immunology and Allergy ,Hematology - Abstract
Contemporary therapy of acute promyelocytic leukemia (APL) is based on the use of all-trans retinoic acid, which is effective against tumor cells harboring RARa gene rearrangements (most common – t(15;17)(q24;q21)/PML::RARa). In several studies, it was suggested to use typical immunophenotypic features of APL (HLA-DR-negativity, etc) for prediction of RARa rearrangements presence. In this study, we aimed to evaluate the range of genetic aberrations that could be found in the HLA-DR-negative acute myeloid leukemia (AML). Our study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Among studied 806 pediatric AML patients, HLA-DR-negativity was found in 253 cases. Only in 45.4% of them t(15;17)(q24;q21)/PML::RARa was found, while in remaining 54.6% normal karyotype or other genetic aberrations without RARa involvement. Frequency of the most common immunophenotypic features of APL, such as total CD117, CD33 and MPO expression with the lack of CD34, was higher in patients with t(15;17)(q24;q21)/PML::RARa, although only two thirds of APL cases were found to have all these signs. Moreover, the percentage of cells positive or negative for mentioned antigens varied significantly in APL group. Thus we can conclude, that all “typical” immunophenotypic characteristics of APL including HLA-DR-negativity, are very unspecific and cannot be used for reliable prediction of presence of t(15;17)(q24;q21)/PML::RARa.
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- 2022
161. The outcomes of children with acute myeloid leukemia treated in accordance with the AML–MM-2006 protocol
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I. I. Kalinina, D. A. Venyov, Yu. V. Olshanskaya, M. N. Sadovskaya, O. V. Goronkova, T. Yu. Salimova, U. N. Petrova, D. D. Baidildina, E. V. Suntsova, D. A. Evseev, V. E. Matveev, K. S. Antonova, I. G. Khamin, M. Е. Dubrovina, E. A. Zerkalenkova, M. V. Gaskova, A. M. Popov, S. A. Kashpor, A. I. Mandzhieva, T. V. Konyukhova, L. A. Khachatryan, D. V. Litvinov, D. N. Balashov, L. N. Shelikhova, M. A. Maschan, G. A. Novichkova, and A. A. Maschan
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Oncology ,Immunology ,Pediatrics, Perinatology and Child Health ,Immunology and Allergy ,Hematology - Abstract
Over the past years, the outcomes of patients with acute myeloid leukemia (AML) have significantly improved due to the use of intensive chemotherapy, more effective supportive therapy, and the availability of allogeneic hematopoietic stem cell transplantation. This article presents the outcomes of children with AML treated in accordance with the AML-MM-2006 protocol. Our study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The study included 233 patients with a median age of 6.5 years (7 days – 18 years) who were stratified into the following risk groups: standard risk, intermediate risk, and high risk. The 5-year event-free survival (EFS) was 0.64 ± 0,14, 0.49 ± 0.05, and 0.43 ± 0.05 for standard-risk (n = 12), intermediate-risk (n = 106), and high-risk (n = 115) patients, respectively (p = 0.14), while the 5-year overall survival (OS) was 1.0 year, 0.7 ± 0.05 and 0.55 ± 0.05, respectively (p = 0.001). The OS in the entire cohort was 0.68 ± 0.032. Factors associated with poor prognosis included hyperleukocytosis, the presence of extramedullary lesions, and age < 1 year. The overall survival rates in these patient groups were 0.55 ± 0.08, 0.39 ± 0.09 and 0.49 ± 0.08, respectively. The worst prognosis was for patients with monosomy 7 and t(7;12) whose OS rates were 0.25 ± 0.2 and 0.4 ± 0.2, respectively. For non-responders and patients with relapsed AML, the OS was 0.33 ± 0.08 and 0.54 ± 0.06, respectively. Early death (before remission could be achieved) occurred in 4% of patients, and 3.8% of patients died in first remission. Sixtytwo percent of deceased patients died of disease progression. In the entire cohort of patients, the five-year EFS was 0.53 ± 0.047, the cumulative risk of relapse after 3 years of remission was 40%, the confidence interval was 23–89%.
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- 2022
162. Clinical guidelines for the management of patients with paroxysmal nocturnal hemoglobinuria
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V. G. Savchenko, E. A. Lukina, E. A. Mikhaylova, N. V. Tsvetaeva, V. D. Latyshev, K. A. Lukina, Z. T. Fidarova, I. V. Galtseva, V. N. Dvirnik, V. V. Ptushkin, B. V. Afanasyev, A. D. Kulagin, E. R. Shilova, A. A. Maschan, N. S. Smetanina, and S. A. Lugovskaya
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Hematology - Abstract
Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal disease of the blood system characterized by intravascular hemolysis, bone marrow dysfunction and an increased risk of thrombotic and organ complications.Aim — to provide relevant clinical recommendations for the provision of medical care to adults and children with PNH.Basic information. Experts from the National Hematological Society association which is focused on the promotion of hematology, transfusiology and bone marrow transplantation along with experts from the public organization, National Society of Pediatric Hematologists and Oncologists, have developed current clinical recommendations for providing medical care to adults and children with PNH. The recommendations address in detail the issues of etiology, pathogenesis, epidemiology, and clinical manifestations of the disease. Special attention is paid to the diagnosis, differential diagnosis, and treatment of PNH based on the principles of evidence.
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- 2022
163. Combination of ibrutinib and venetoclax followed by Chimeric Antigen Receptor T-cell therapy in the first line of treatment in an elderly patient with mantle cell lymphoma with hyperleukocytosis and mutation in the TP53 gene
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E. E. Zvonkov, D. A. Koroleva, N. G. Gabeeva, A. E. Shchekina, M. A. Telyashov, O. A. Aleshina, B. V. Biderman, A. B. Sudarikov, T. N. Obukhova, I. V. Galtseva, V. N. Dvirnik, V. V. Troitskaya, G. M. Galstyan, M. A. Maschan, and E. N. Parovichnikova
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Hematology - Abstract
Introduction. The tactics of therapy for elderly comorbid patients with mantle cell lymphoma with unfavorable prognosis factors (complex karyotype, 17p13 deletion, mutations in the TP53 gene) have not been developed. The use of intensive chemotherapy regimens and transplantation of allogeneic hematopoietic stem cells (allo-HSCT) is impossible due to severe comorbidity in elderly patients. A rational approach is the use of a combination of ibrutinib and venetoclax. As an alternative to allo-HSCT, a new option for elderly patients with poor prognostic factors is Chimeric Antigen Receptor T-cell therapy (CAR-T) cell therapy.Aim — to present the experience of using ibrutinib and venetoclax with CAR-T-cell therapy in the first line of treatment in an elderly patient with MCL with a mutation in the TP53 gene and hyperleukocytosis.Main findings. Patient M., 68 years old. The examination revealed hyperleukocytosis 978 × 109/L, anemia (55 g/L), thrombocytopenia (30 × 109/L), and splenomegaly 250 × 180 mm. According to the results of laboratory studies, the diagnosis of lymphoma from mantle cells with a complex karyotype, deletion 17p13, 13q14 and mutation p.R248W in exon 7 of the TP53 gene (VAF = 26 %) was verified. For cytoreductive purposes, two sessions of leukocytapheresis and prephase with cyclophosphamide (200 mg/m2) and dexamethasone (10 mg/m2) were performed. From day 3, therapy with ibrutinib 420 mg/day and venetoclax 100 mg/day was started. After 2 days, the leukocytes were 0.7 × 109/L, and the size of the spleen decreased, as a result of which the development of tumor lysis syndrome was noted. As a result of intensive therapy, the patient’s condition stabilized, which allowed him to resume treatment. After 7 days, the number of leukocytes was 2.5 × 109/L, neutrophils — 70 %, platelets — 90 × 109/L, hemoglobin — 95 g/L. According to immunophenotyping, the population of B-lymphocytes was 4 %. According to NGS data, the allelic load of the mutation in the TP53 gene is 0.8 %. The patient underwent anti-CD19 CAR-T-cell therapy and achieved complete remission. Three months after therapy, MRD remains-negative remission and the persistence of CAR-T cells is determined.
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- 2022
164. Haploidentical donor-derived memory CAR T cells: first in human experience and in vitro correlative study
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Valeria Ukrainskaya, Olga Molostova, Larisa Shelikhova, Dmitriy Pershin, Elena Kulakovskaya, Dmitry Volkov, Arina Rakhteenko, Yakov Muzalevskii, Alexei Kazachenok, Varvara Brilliantova, Daria Osipova, Yury Rubtsov, Alexey Stepanov, and Michael Maschan
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T-Lymphocytes ,Graft vs Host Disease ,Humans ,Hematology ,Immunotherapy, Adoptive - Published
- 2022
165. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study
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Michael H. Albert, Tiarlan Sirait, Dirk-Jan Eikema, Katerina Bakunina, Claudia Wehr, Felipe Suarez, Maria Laura Fox, Nizar Mahlaoui, Andrew R. Gennery, Arjan C. Lankester, Rita Beier, Maria Ester Bernardo, Venetia Bigley, Caroline A. Lindemans, Siobhan O. Burns, Ben Carpenter, Jaroslaw Dybko, Tayfun Güngör, Fabian Hauck, Su Han Lum, Dmitry Balashov, Roland Meisel, Despina Moshous, Ansgar Schulz, Carsten Speckmann, Mary A. Slatter, Brigitte Strahm, Duygu Uckan-Cetinkaya, Isabelle Meyts, Tanja C. Vallée, Robert Wynn, Bénédicte Neven, Emma C. Morris, Alessandro Aiuti, Alexei Maschan, Mahmoud Aljurf, Tobias Gedde-Dahl, Gunhan Gurman, Victoria Bordon, Gergely Kriván, Franco Locatelli, Fulvio Porta, David Valcárcel, Yves Beguin, Maura Faraci, Nicolaus Kröger, Aleksandr Kulagin, Peter J. Shaw, Joan Hendrik Veelken, Cristina Diaz de Heredia, Franca Fagioli, Matthias Felber, Bernd Gruhn, Wolfgang Holter, Claudia Rössig, Petr Sedlacek, Jane Apperley, Mouhab Ayas, Ivana Bodova, Goda Choi, J.J. Cornelissen, Anne Sirvent, Anjum Khan, Alphan Kupesiz, Stig Lenhoff, Hakan Ozdogu, Nicolas von der Weid, Montserrat Rovira, Rik Schots, Donald C. Vinh, Clinical sciences, and Hematology
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Adult ,Adolescent ,adolescenti ,Trapianto ,Immunology ,Graft vs Host Disease ,Biochemistry ,Bronchiectasis/etiology ,Humans ,Transplantation, Homologous ,Hematopoietic Stem Cell Transplantation/adverse effects ,Child ,Retrospective Studies ,cellule staminali ematopoietiche ,Hematopoietic Stem Cell Transplantation ,Infant ,Trapianto, cellule staminali ematopoietiche, adolescenti ,Inborn errors of immunity ,Cell Biology ,Hematology ,Middle Aged ,Bronchiectasis ,surgical procedures, operative ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,HSCT ,young adult - Abstract
Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of published HSCT outcome data outside small, single-center studies and perceived high risk of transplant-related mortality have delayed the adoption of HSCT for IEI patients presenting or developing significant organ damage later in life. This large retrospective, multicenter HSCT outcome study reports on 329 IEI patients (age range, 15-62.5 years at HSCT). Patients underwent first HSCT between 2000 and 2019. Primary endpoints were overall survival (OS) and event-free survival (EFS). We also evaluated the influence of IEI-subgroup and IEI-specific risk factors at HSCT, including infections, bronchiectasis, colitis, malignancy, inflammatory lung disease, splenectomy, hepatic dysfunction, and systemic immunosuppression. At a median follow-up of 44.3 months, the estimated OS at 1 and 5 years post-HSCT for all patients was 78% and 71%, and EFS was 65% and 62%, respectively, with low rates of severe acute (8%) or extensive chronic (7%) graft-versus-host disease. On univariate analysis, OS and EFS were inferior in patients with primary antibody deficiency, bronchiectasis, prior splenectomy, hepatic comorbidity, and higher hematopoietic cell transplant comorbidity index scores. On multivariable analysis, EFS was inferior in those with a higher number of IEI-associated complications. Neither age nor donor had a significant effect on OS or EFS. We have identified age-independent risk factors for adverse outcome, providing much needed evidence to identify which patients are most likely to benefit from HSCT. ispartof: BLOOD vol:140 issue:14 pages:1635-1649 ispartof: location:United States status: published
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- 2022
166. Cancer‐causing MAP2K1 mutation in a mosaic patient with cardio‐facio‐cutaneous syndrome and immunodeficiency
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Victorya Zakharova, Elena Raykina, Irina Mersiyanova, Ekaterina Deordieva, Dmitry Pershin, Victorya Vedmedskia, Yulia Rodina, Natalia Kuzmenko, Michael Maschan, and Anna Shcherbina
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Genetics ,Genetics (clinical) - Abstract
RASopathies are disorders caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. These syndromes share features of developmental delay, facial dysmorphisms, and defects in various organs, as well as cancer predisposition. Somatic mutations of the same pathway are one of the primary causes of cancer. It is thought that germline cancer-causing mutations would be embryonic lethal, as a more severe phenotype was shown in Drosophila and zebrafish embryos with cancer MAP2K1 mutations than in those with RASopathy mutations. Here we report the case of a patient with RASopathy caused by a cancer-associated MAP2K1 p.Phe53Leu mutation. The postzygotic mosaic nature of this mutation could explain the patient's survival.
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- 2022
167. Natural Flt3Lg-Based Chimeric Antigen Receptor (Flt3-CAR) T Cells Successfully Target Flt3 on AML Cell Lines
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Varvara Maiorova, Murad D. Mollaev, Polina Vikhreva, Elena Kulakovskaya, Dmitry Pershin, Dmitriy M. Chudakov, Alexey Kibardin, Michael A. Maschan, and Sergey Larin
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ligand-based targeting ,CAR T cell therapy ,acute myeloid leukemia ,Medicine - Abstract
Relapsed/refractory acute myeloid leukemia (AML) cannot be cured with chemotherapy alone, as the blasts survive the treatment. Chimeric antigen receptor (CAR) approaches for AML are being actively developed. CARs promote immune reactions through recognition of the target molecular epitopes at the surface of cancer cells. The recognition involves the extracellular portion of the CAR protein, which corresponds to either the antibody or the physiological binding partner of the targeted antigen. Here, we design a chimeric receptor with a full-length natural Flt3-ligand recognition module that targets Flt3 tyrosine kinase, known as an adverse marker in AML. We demonstrate specific killing of Flt3-positive THP-1 cells by Flt3-CAR T cells and the lack of cytotoxicity towards Flt3-negative U937 cells. We prove that the inherent cytolytic capacity of T cells is essential for the killing. Finally, we confirm the authenticity of targeting by its competitive dose-dependent inhibition with a soluble Flt3-ligand. The developed system can be viewed as a non-immunogenic functional equivalent of scFv-mediated targeting. The robust in vitro antitumor effects of Flt3-CAR T cells, combined with their low off-target cytotoxicity, hold promise for AML treatment.
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- 2021
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168. Second allogeneic hematopoietic stem cell transplantation in patients with inborn errors of immunity
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Laberko, Alexandra, primary, Sultanova, Elvira, additional, Idarmacheva, Aishat, additional, Skvortsova, Yulia, additional, Shelikhova, Larisa, additional, Nechesnyuk, Alexei, additional, Kobyzeva, Daria, additional, Shcherbina, Anna, additional, Maschan, Michael, additional, Maschan, Alexei, additional, and Balashov, Dmitry, additional
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- 2022
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169. Tcrαβ+/CD19+-Depletion in Hematopoietic Stem Cells Transplantation from Matched Unrelated and Haploidentical Donors in Pediatric Acute Lymphoblastic Leukemia Patients in Complete Remission
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Shelikhova, Larisa, primary, Khismatullina, Rimma, additional, Balashov, Dmitriy, additional, Kazachenok, Alexey, additional, Muzalevsky, Yakov, additional, Abugova, Julia, additional, Skvortsova, Julia, additional, Popov, Alexander, additional, Pershin, Dmitry, additional, Kobyzeva, Daria, additional, Nechesnyuk, Alexey, additional, Olshanskaya, Yulia, additional, Kozlovskaya, Svetlana, additional, Blagov, Sergey, additional, Miakova, Natalia, additional, Novichkova, Galina, additional, Maschan, Alexey, additional, and Maschan, Michael, additional
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- 2022
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170. Allogeneic Donor-Derived Myeloid Antigen Directed CAR-T Cells - for Relapsed/Refractory Acute Myeloid Leukemia in Children after Allogeneic Hematopoietic Stem Cell Transplantation: Report of Three Cases
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Shelikhova, Larisa, primary, Rakhteenko, Arina, additional, Molostova, Olga, additional, Kurnikova, Elena, additional, Ukrainskaya, V., additional, Muzalevsky, Yakov, additional, Pershin, Dmitry, additional, Popov, Alexander, additional, Kulakovskaya, Elena, additional, Baidildina, Dina, additional, Stepanov, Alexey, additional, Osipova, Elena, additional, Novichkova, Galina, additional, Maschan, Alexey, additional, and Maschan, Michael, additional
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- 2022
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171. Targeted Therapy With Venetoclax and Daratumumab as Part of HSCT Preparative Regimen in Children With Chemorefractory Acute Myeloid Leukemia
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Klimentova, Maria, primary, Shelikhova, Larisa, additional, Ilushina, Maria, additional, Kozlovskaya, Svetlana, additional, Blagov, Sergei, additional, Popov, Alexander, additional, Kashpor, Svetlana, additional, Fadeeva, Maria, additional, Olshanskaya, Julia, additional, Glushkova, Svetlana, additional, Pershin, Dmitriy, additional, Balashov, Dmitriy, additional, Maschan, Alexei, additional, and Maschan, Michael, additional
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- 2022
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172. Accelerated death of megakaryocytes from <scp>Wiskott–Aldrich</scp> syndrome patients
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Sergei I. Obydennyi, Sofya A. Kuznetsova, Olga S. Fedyanina, Anna Khoreva, Kirill Voronin, Alexey V. Mazurov, Anna A. Glukhova, Elena O. Artemenko, Fazoil I. Ataullakhanov, Alexey A. Maschan, Galina A. Novichkova, Anna Shcherbina, and Mikhail A. Panteleev
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Hematology - Published
- 2023
173. Tracking T-cell immune reconstitution after TCRαβ/CD19-depleted hematopoietic cells transplantation in children
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Zvyagin, I V, Mamedov, I Z, Tatarinova, O V, Komech, E A, Kurnikova, E E, Boyakova, E V, Brilliantova, V, Shelikhova, L N, Balashov, D N, Shugay, M, Sycheva, A L, Kasatskaya, S A, Lebedev, Y B, Maschan, A A, Maschan, M A, and Chudakov, D M
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- 2017
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174. Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis
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Alexandra E. Kovach, Elena Zerkalenkova, Ludmila Zemtsova, Aleksandra Borkovskaya, Marina Gaskova, Marat Kazanov, Alexander Popov, Liudmila Baidun, Michael Maschan, Alexey Maschan, Paul S. Gaynon, Deepa Bhojwani, Galina Novichkova, Yulia Olshanskaya, and Gordana Raca
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Chromosomes, Human, X ,Cancer Research ,Oncogene Proteins, Fusion ,Sequence Analysis, RNA ,Infant ,Translocation, Genetic ,Leukemia, Myeloid, Acute ,Proto-Oncogene Proteins c-myb ,Genetics ,Humans ,Chromosomes, Human, Pair 6 ,Female ,GATA1 Transcription Factor ,Chromosomes, Human, Pair 9 ,Molecular Biology - Abstract
Pediatric acute myeloid leukemia (AML) is genetically heterogenous (Olsson et al., 2016). t(X;6)(p11;q23) is a rare but recurrent chromosomal translocation in infant AML thought to be associated with male sex and basophilic differentiation (Dastugue et al., 1997). Here we report molecular characterization of AML with t(X;6)(p11;q23);MYB-GATA1 in two female infants and demonstrate preserved GATA1 expression in the sample tested. These findings further debunk a concept that this fusion was restricted to males, in whom it disrupts the only copy of the X-linked GATA1 gene, causing presumable complete loss of GATA1 function. Our data also demonstrate the power and efficiency of RNA sequencing for subclassification of leukemia on a clinically relevant timeline.
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- 2022
175. Prognostic significance of chromosomal abnormalities at relapse in children with relapsed acute myeloid leukemia: A retrospective cohort study of the Relapsed AML 2001/01 Study
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Klein, K, Beverloo, H, Zimmermann, M, Raimondi, S, von Neuhoff, C, de Haas, V, van Weelderen, R, Cloos, J, Abrahamsson, J, Bertrand, Y, Dworzak, M, Fynn, A, Gibson, B, Ha, S, Harrison, C, Hasle, H, Elitzur, S, Leverger, G, Maschan, A, Razzouk, B, Reinhardt, D, Rizzari, C, Smisek, P, Creutzig, U, Kaspers, G, Klein K., Beverloo H. B., Zimmermann M., Raimondi S. C., von Neuhoff C., de Haas V., van Weelderen R., Cloos J., Abrahamsson J., Bertrand Y., Dworzak M., Fynn A., Gibson B., Ha S. -Y., Harrison C. J., Hasle H., Elitzur S., Leverger G., Maschan A., Razzouk B., Reinhardt D., Rizzari C., Smisek P., Creutzig U., Kaspers G. J. L., Klein, K, Beverloo, H, Zimmermann, M, Raimondi, S, von Neuhoff, C, de Haas, V, van Weelderen, R, Cloos, J, Abrahamsson, J, Bertrand, Y, Dworzak, M, Fynn, A, Gibson, B, Ha, S, Harrison, C, Hasle, H, Elitzur, S, Leverger, G, Maschan, A, Razzouk, B, Reinhardt, D, Rizzari, C, Smisek, P, Creutzig, U, Kaspers, G, Klein K., Beverloo H. B., Zimmermann M., Raimondi S. C., von Neuhoff C., de Haas V., van Weelderen R., Cloos J., Abrahamsson J., Bertrand Y., Dworzak M., Fynn A., Gibson B., Ha S. -Y., Harrison C. J., Hasle H., Elitzur S., Leverger G., Maschan A., Razzouk B., Reinhardt D., Rizzari C., Smisek P., Creutzig U., and Kaspers G. J. L.
- Abstract
Background: In addition to treatment response, cytogenetic and molecular aberrations are the most important prognostic factors in children with de novo acute myeloid leukemia (AML). However, little is known about cytogenetics at the time of relapse. Methods: This international study analyzed the prognostic value of cytogenetic profiles and karyotypic changes in pediatric relapsed AML in relation to the probability of event-free (pEFS) and overall survival (pOS). For this purpose, cytogenetic reports from all patients registered on the Relapsed AML 2001/01 Study were reviewed and classified. Results: Cytogenetic information at relapse was available for 403 (71%) of 569 registered patients. Frequently detected aberrations at relapse were t(8;21)(q22;q22) (n = 60) and inv(16)(p13.1q22)/t(16;16)(p13.1;q22) (n = 24), both associated with relatively good outcome (4-year pOS 59% and 71%, respectively). Monosomy 7/7q−, t(9;11)(p22;q23), t(10;11)(p12;q23), and complex karyotypes were associated with poor outcomes (4-year pOS 17%, 19%, 22%, and 22%, respectively). Of 261 (65%) patients for whom cytogenetic data were reliable at both diagnosis and relapse, pEFS was inferior for patients with karyotypic instability (n = 128, 49%), but pOS was similar. Unstable karyotypes with both gain and loss of aberrations were associated with inferior outcome. Early treatment response, time to relapse, and cytogenetic profile at time of relapse were the most important prognostic factors, both outweighing karytoypic instability per se. Conclusion: The cytogenetic subgroup at relapse is an independent risk factor for (event-free) survival. Cytogenetic assessment at the time of relapse is of high importance and may contribute to improved risk-adapted treatment for children with relapsed AML.
- Published
- 2022
176. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
- Author
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F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut, S. Ozen, J. Frenkel, A. Simon, A. Zeft, E. Ben-Chetrit, H. M. Hoffman, Y. Joubert, K. Lheritier, A. Speziale, J. Guido, Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Maria Alessio, Giovanni Conti, Federico Marchetti, Alberto Tommasini, Silvana Martino, Romina Gallizzi, Annalisa Salis, Francesca Schena, Francesco Caroli, Alberto Martini, Gianluca Damonte, Isabella Ceccherini, Marco Gattorno, Marie-Louise Frémond, Carolina Uggenti, Lien Van Eyck, Isabelle Melki, Darragh Duffy, Vincent Bondet, Yoann Rose, Bénédicte Neven, Yanick Crow, Mathieu P. Rodero, Yvonne Kusche, Johannes Roth, Katarzyna Barczyk-Kahlert, Giovanna Ferrara, Annalisa Chiocchetti, Silvio Polizzi, Josef Vuch, Diego Vozzi, Anna Mondino, Erica Valencic, Serena Pastore, Andrea Taddio, Flavio Faletra, Umberto Dianzani, Ugo Ramenghi, Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Tsai, Amanda Ombrello, Tina Romeo, Elaine F. Remmers, JaeJin Chae, Massimo Gadina, Steven Welch, Seza Ozen, Rezan Topaloglu, Mario Abinun, Daniel L. Kastner, Ivona Aksentijevich, Donatella Vairo, Rosalba Monica Ferraro, Giulia Zani, Jessica Galli, Micaela De Simone, Marco Cattalini, Elisa Fazzi, Silvia Giliani, Ebun Omoyinmi, Ariane Standing, Dorota Rowczenio, Annette Keylock, Sonia Melo Gomes, Fiona Price-Kuehne, Sira Nanthapisal, Claire Murphy, Thomas Cullup, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen Lachmann, Philip Hawkins, Nigel Klein, Paul Brogan, Anita Dhanrajani, Mercedes Chan, Stephanie Pau, Janet Ellsworth, Jaime Guzman, Florence A. Aeschlimann, Marinka Twilt, Simon W. Eng, Shehla Sheikh, Ronald M. Laxer, Diane Hebert, Damien Noone, Christian Pagnoux, Susanne M. Benseler, Rae S. Yeung, Christoph Kessel, Katrin Lippitz, Toni Weinhage, Claas Hinze, Helmut Wittkowski, Dirk Holzinger, Niklas Grün, Dirk Föll, Pieter Van Dijkhuizen, Federica Del Chierico, Clara Malattia, Alessandra Russo, Denise Pires Marafon, Nienke M. ter Haar, Silvia Magni-Manzoni, Sebastiaan J. Vastert, Bruno Dallapiccola, Berent Prakken, Fabrizio De Benedetti, Lorenza Putignani, Berna Eren Fidanci, Kenan Barut, Serap Arıcı, Dogan Simsek, Mustafa Cakan, Ezgi D. Batu, Sezgin Şahin, Ayşenur Kısaarslan, Ebru Yilmaz, Özge Basaran, Ferhat Demir, Kubra Ozturk, Zübeyde Gunduz, Betül Sozeri, Balahan Makay, Nuray Ayaz, Onder Yavascan, Ozlem Aydog, Yelda Bilginer, Zelal Ekinci, Dilek Yıldız, Faysal Gök, Muferret Erguven, Erbil Unsal, Ozgur Kasapcopur, For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR), Hafize E. Sönmez, Betül Sözeri, Yonatan Butbul, Seza Özen, Claudia Bracaglia, Giusi Prencipe, Manuela Pardeo, Geneviève Lapeyre, Emiliano Marasco, Walter Ferlin, Robert Nelson, Cristina de Min, N. Ruperto, H. I. Brunner, P. Quartier, T. Constantin, E. Alexeeva, K. Marzan, N. Wulffraat, R. Schneider, S. Padeh, V. Chasnyk, C. Wouters, J. B. Kuemmerle-Deschner, T. Kallinich, B. Lauwerys, E. Haddad, E. Nasonov, M. Trachana, O. Vougiouka, K. Leon, E. Vritzali, A. Martini, D. Lovell, PRINTO/PRCSG, Stefano Volpi, Claudia Pastorino, Francesca Kalli, Alessia Omenetti, Sabrina Chiesa, Arinna Bertoni, Paolo Picco, Gilberto Filaci, Elisabetta Traggiai, Marie-Louise Fremond, Naoki Kitabayashi, Olivero Sacco, Isabelle Meyts, Marie-Anne Morren, Carine Wouters, Eric Legius, Isabelle Callebaut, Christine Bodemer, Frederic Rieux-Laucat, Mathieu Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Didier Bessis, Guilhem Cros, Gillian I. Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Frédéric Rieux-Laucat, K. Annink, N. ter Haar, S. Al-Mayouf, G. Amaryan, K. Barron, S. Benseler, P. Brogan, L. Cantarini, M. Cattalini, A. Cochino, F. Dedeoglu, A. De Jesus, O. Dellacasa, E. Demirkaya, P. Dolezalova, K. Durrant, G. Fabio, R. Gallizzi, R. Goldbach-Mansky, E. Hachulla, V. Hentgen, T. Herlin, M. Hofer, H. Hoffman, A. Insalaco, A. Jansson, I. Koné-Paut, A. Kozlova, J. Kuemmerle-Deschner, R. Laxer, S. Nielsen, I. Nikishina, A. Ombrello, E. Papadopoulou-Alataki, A. Ravelli, D. Rigante, R. Russo, Y. Uziel, Nienke ter Haar, Jerold Jeyaratnam, Anna Simon, Matteo Doglio, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Luca Cantarini, Loredana Lepore, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Nicolino Ruperto, Joost Frenkel, Chiara Passarelli, Elisa Pisaneschi, Virginia Messia, Antonio Novelli, Fabrizio Debenedetti, P. A. Brogan, X. Wei, Martina Finetti, Francesca Orlando, Elisabetta Cortis, Angela Miniaci, Nicola Ruperto, Charlotte Eijkelboom, Pavla Dolezalova, Isabelle Koné-Paut, Marija Jelusic-Drazic, Liliana Bezrodnik, Mari Carmen Pinedo, Valda Stanevicha, Marielle van Gijn, Silvia Federici, Hermann Girschick, Gerd Ganser, Susan Nielsen, Troels Herlin, Sulaiman Mohammed Al-Mayouf, Michael Hofer, Jasmin Kuemmerle-Deschner, Susanne Schalm, Annette Jansson, on behalf of PRINTO and Eurofever registry, Marta Marchi, Chiara Marini, Angelo Ravelli, Alberto Garaventa, Sonia Carta, Enrica Balza, Patrizia Castellani, Caterina Pellecchia, Silvia Borghini, Maria Libera Trotta, Anna Rubartelli, Andrew Henrey, Thomas Loughin, Roberta Berard, Natalie Shiff, Roman Jurencak, Susanne Benseler, Lori Tucker, on behalf of ReACCh-Out Investigators, Charalampia Papadopoulou, Ying Hong, Petra Krol, Yiannis Ioannou, Clarissa Pilkington, Hema Chaplin, Stephania Simou, Marietta Charakida, Lucy Wedderburn, Lynn R. Spiegel, Sara Ahola Kohut, Jennifer Stinson, Paula Forgeron, Miriam Kaufman, Nadia Luca, Khush Amaria, Mary Bell, J Swart, F. Boris, E. Castagnola, A. Groll, G. Giancane, G. Horneff, H. I. Huppertz, T. Wolfs, E. Alekseeva, V. Panaviene, F. Uettwiller, V. Stanevicha, L. M. Ailioaie, E. Tsitami, S. Kamphuis, G. Susic, F. Sztajnbok, B. Flato, A. Pistorio, Stephanie J. W. Shoop, Suzanne M. M. Verstappen, Janet E. McDonagh, Wendy Thomson, Kimme L. Hyrich, CAPS, Maarit Tarkiainen, Pirjo Tynjala, Pekka Lahdenne, Janne Martikainen, Acute-JIA Study Group, Meredyth Wilkinson, Christopher Piper, Georg Otto, Claire T. Deakin, Stefanie Dowle, Stefania Simou, Daniel Kelberman, Claudia Mauri, Elizabeth Jury, David Isenberg, Lucy R. Wedderburn, Kiran Nistala, I. Foeldvari, D. J. Lovell, G. Simonini, M. Bereswill, J. Kalabic, Kiem Oen, Brian M. Feldman, Brenden Dufault, Jennifer Lee, Karen Watanabe Duffy, Ciaran Duffy, ReACCh-Out Investigators, N. Tzaribachev, G. Vega-Cornejo, I. Louw, A. Berman, I. Calvo, R. Cuttica, F. Avila-Zapata, R. Cimaz, E. Solau-Gervais, R. Joos, G. Espada, X. Li, M. Nys, R. Wong, S. Banerjee, For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG), Rebecca Nicolai, Margherita Verardo, Adele D’Amico, Luisa Bracci-Laudiero, Gian Marco Moneta, Gillian Rice, Anne-Laure Mathieu, Sulliman O. Omarjee, Tracy A. Briggs, James O’Sullivan, Simon Williams, Rolando Cimaz, Eve Smith, Michael W. Beresford, Yanick J. Crow, GENIAL Investigators, UK JSLE Study Group, Madeleine Rooney, Nick Bishop, joyce davidson, Clarissa pilkington, Michael Beresford, Jacqui Clinch, Rangaraj Satyapal, Helen Foster, Janet Gardner Medwin, Janet McDonagh, Sue Wyatt, On Behalf of the British Society for Paediatric and Adolescent Rheumatology, Valentina Litta Modignani, Francesco Baldo, Stefano Lanni, Alessandro Consolaro, Giovanni Filocamo, Helen J. Lachmann, on behalf of Eurofever Registry, Gianmarco Moneta, Camilla Celani, Bilade Cherqaoui, Linda Rossi-Semerano, Perrine Dusser, Véronique Hentgen, Claire Grimwood, Linda Rossi, Isabelle Kone Paut, Veronique Hentgen, Denise Lasigliè, Denise Ferrera, Giulia Amico, Marco Di Duca, Laura Obici, Roberto Ravazzolo, Ryuta Nishikomori, Juan Arostegui, Andrea Petretto, Chiara Lavarello, Elvira Inglese, Federica Vanoni, Michaël Hofer, on behalf of EUROFEVER PROJECT, P. N. Hawkins, T. van der Poll, U. A. Walker, H. H. Tilson, Pascal N. Tyrrell, Raphaela Goldbach-Mansky, Norbert Blank, Hal M. Hoffman, Elisabeth Weissbarth-Riedel, Boris Huegle, Tilmann Kallinich, Ahmet Gul, Marlen Oswald, Fatma Dedeoglu, Aki Hanaya, Takako Miyamae, Manabu Kawamoto, Yumi Tani, Takuma Hara, Yasushi Kawaguchi, Satoru Nagata, Hisashi Yamanaka, Almira Ćosićkić, Fahrija Skokić, Belkisa Čolić, Sanimir Suljendić, Anna Kozlova, Irina Mersiyanova, Mariya Panina, Lily Hachtryan, Vasiliy Burlakov, Elena Raikina, Alexey Maschan, Anna Shcherbina, Banu Acar, Meryem Albayrak, Betul Sozeri, Sezgin Sahin, Amra Adrovic, Nese Inan, Serhan Sevgi, Caroline M. Andreasen, Anne Grethe Jurik, Mia B. Glerup, Christian Høst, Birgitte T. Mahler, Ellen-Margrethe Hauge, Cecilia Lazea, Laura Damian, Calin Lazar, Rodica Manasia, Chloe M. Stephenson, Vimal Prajapati, Paivi M. Miettunen, Dilek Yılmaz, Yavuz Tokgöz, Yasin Bulut, Harun Çakmak, Ferah Sönmez, Elif Comak, Gülşah Kaya Aksoy, Mustafa Koyun, Sema Akman, Yunus Arıkan, Ender Terzioğlu, Osman Nidai Özdeş, İbrahim Keser, Hüseyin Koçak, Ayşen Bingöl, Aygen Yılmaz, Reha Artan, X. Xu, Fatemeh F. Mehregan, Vahid Ziaee, Mohammad H. Moradinejad, Francesco La Torre, Clotilde Alizzi, Pio D’Adamo, G. Junge, J. Gregson, Hasmik Sargsyan, Hulya Zengin, Berna E. Fidanci, Cagla Kaymakamgil, Dilek Konukbay, Dilek Yildiz, Faysal Gok, Iris Stoler, Judith Freytag, Banu Orak, Christine Seib, Lars Esmann, Eva Seipelt, Faekah Gohar, Dirk Foell, Ismail Dursun, Sebahat Tulpar, Sibel Yel, Demet Kartal, Murat Borlu, Funda Bastug, Hakan Poyrazoglu, Zubeyde Gunduz, Kader Kose, Mehmet E. Yuksel, Abdullah Calıskan, Ahmet B. Cekgeloglu, Ruhan Dusunsel, Katerina Bouchalova, Jana Franova, Marcel Schuller, Marie Macku, Katerina Theodoropoulou, Raffaella Carlomagno, Annette von Scheven-Gête, Claudia Poloni, Laura O. Damian, Dan Cosma, Amanda Radulescu, Dan Vasilescu, Liliana Rogojan, Simona Rednic, Mihaela Lupse, Lien De Somer, Pierre Moens, Rocio Galindo Zavala, Laura Martín Pedraz, Esmeralda Núñez Cuadros, Gisela Díaz-Cordovés Rego, Antonio L. Urda Cardona, Ilaria Dal Forno, Sara Pieropan, Ombretta Viapiana, Davide Gatti, Gloria Dallagiacoma, Paola Caramaschi, Domenico Biasi, Daniel Windschall, Ralf Trauzeddel, Hartwig Lehmann, Rainer Berendes, Maria Haller, Manuela Krumrey-Langkammerer, Antje Nimtz-Talaska, Philipp Schoof, Ralf Felix Trauzeddel, Christine Nirschl, Estefania Quesada-Masachs, Carla Aguilar Blancafort, Sara Marsal Barril, Francisca Aguiar, Rita Fonseca, Duarte Alves, Ana Vieira, Alberto Vieira, Jorge A. Dias, Iva Brito, Gordana Susic, Vera Milic, Goran Radunovic, Ivan Boricic, Pauline Marteau, Catherine Adamsbaum, Michel De Bandt, Irène Lemelle, Chantal Deslandre, Tu Anh Tran, Anne Lohse, Elisabeth Solau-Gervais, Pascal Pillet, Julien Wipff, Cécile Gaujoux-Viala, Sylvain Breton, Valérie Devauchelle-Pensec, Sandra Gran, Olesja Fehler, Stefanie Zenker, Michael Schäfers, Thomas Vogl, Severine Guillaume Czitrom, EH Pieter Van Dijkhuizen, Silvia Magni Manzoni, Francesca Magnaguagno, Laura Tanturri de Horatio, Nienke M. Ter Haar, Annemieke S. Littooij, Vitor A. Teixeira, Raquel Campanilho-Marques, Ana F. Mourão, Filipa O. Ramos, Manuela Costa, Wafa A. Madan, Orla G. Killeen, Adriana Rodriguez Vidal, Diana Sueiro Delgado, Maria Isabel Gonzalez Fernandez, Berta Lopez Montesinos, Aleksey Kozhevnikov, Nina Pozdeeva, Mikhail Konev, Evgeniy Melchenko, Vladimir Kenis, Gennadiy Novik, Aysenur Pac Kısaarslan, Butsabong Lerkvaleekul, Suphaneewan Jaovisidha, Witaya Sungkarat, Niyata Chitrapazt, Praman Fuangfa, Thumanoon Ruangchaijatuporn, Soamarat Vilaiyuk, Dan Ø. Pradsgaard, Arne Hørlyck, Anne H. Spannow, Carsten W. Heuck, Talia Diaz, Fernando Garcia, Lorenia De La Cruz, Nadina Rubio, Joanna Świdrowska-Jaros, Elzbieta Smolewska, Mirta Lamot, Lovro Lamot, Mandica Vidovic, Edi Paleka Bosak, Ivana Rados, Miroslav Harjacek, Nikolay Tzaribachev, Polymnia Louka, Romiesa Hagoug, Chiara Trentin, Olga Kubassova, Mark Hinton, Mikael Boesen, Olena A. Oshlianska, Illya A. Chaikovsky, G. Mjasnikov, A. Kazmirchyk, Umberto Garagiola, Irene Borzani, Paolo Cressoni, Fabrizia Corona, Eszter Dzsida, Giampietro Farronato, Antonella Petaccia, Alenka Gagro, Agneza Marija Pasini, Goran Roic, Ozren Vrdoljak, Lucija Lujic, Matija Zutelija-Fattorini, Monika M. Esser, Deepthi R. Abraham, Craig Kinnear, Glenda Durrheim, Mike Urban, Eileen Hoal, Victoria B. Nikolayenko, Kubilay Şahin, Yasar Karaaslan, Adele Civino, Giovanni Alighieri, Sergio Davì, Roberto Rondelli, Andrea Magnolato, Francesca Ricci, Alma Olivieri, Valeria Gerloni, Bianca Lattanzi, Francesca Soscia, Alessandro De Fanti, Stefania Citiso, Lorenzo Quartulli, Maria Cristina Maggio, Manuela Marsili, Maria Antonietta Pelagatti, Valentino Conter, Franca Fagioli, Andrea Pession, Marco Garrone, Mariangela Rinaldi, Jaime De Inocencio, Stella Garay, Daniel J. Lovell, Berit Flato, EPOCA Study Group, Angela Aquilani, Simona Cascioli, Ivan Caiello, Denise Pires-Marafón, Rita Carsetti, Emily Robinson, Salvatore Albani, Wilco de Jager, Sytze de Roock, Trang Duong, Justine Ellis, Kimme Hyrich, Laetitia Jervis, Daniel Lovell, Lucy Marshall, Elizabeth D. Mellins, Kirsten Minden, Jane Munro, Peter A. Nigrovic, Jason Palman, Sunil Sampath, Laura E. Schanberg, Susan D. Thompson, Richard Vesely, Chris Wallace, Chris Williams, Qiong Wu, Nico Wulffraat, Rae S. M. Yeung, M. B. Seyger, D. Arikan, J. K. Anderson, A. Lazar, D. A. Williams, C. Wang, R. Tarzynski-Potempa, J. S. Hymans, Gabriele Simonini, Erika Scoccimarro, Irene Pontikaki, Teresa Giani, Alessandro Ventura, Pier Luigi Meroni, Gaetana Minnone, Marzia Soligo, Luigi Manni, Luisa Bracci Laudiero, Noortje Groot, I. Grein, N. M. Wulffraat, R. Schepp, G. Berbers, C. C. Barbosa Sandoval de Souza, V. Paes Leme Ferriani, G. Pileggi, S. de Roock, Ingrid H. R. Grein, Silvia Scala, Elisa Patrone, Casper Schoemaker, on behalf of Dutch JIA patient organization, Wendy Costello, on behalf of ENCA, Suzanne Parsons, Jean-David Cohen, Damien Bentayou, Marc-Antoine Bernard Brunel, Sonia Trope, Jens Klotsche, Miriam Listing, Martina Niewerth, Gerd Horneff, Angelika Thon, Hans-Iko Huppertz, Kirsten Mönkemöller, Ivan Foeldvari, ICON study group, Achille Marino, Stefano Stagi, Niccolò Carli, Federico Bertini, Adriana S. Díaz-Maldonado, Sally Pino, Pilar Guarnizo, Alfonso Ragnar Torres-Jimenez, Berenice Sanchez-Jara, Eunice Solis-Vallejo, Adriana Ivonne Cespedes-Cruz, Maritza Zeferino-Cruz, Julia Veronica Ramirez-Miramontes, Ankur Kumar, Anju Gupta, Deepti Suri, Amit Rawat, Nandita Kakkar, Surjit Singh, Özge A. Gücenmez, Erbil Ünsal, Bo Magnusson, Karina Mördrup, Anna Vermé, Christina Peterson, Board of the Swedish Pediatric Rheumatology Registry, Caroline Freychet, Jean Louis Stephan, Cathryn E. Harkness, Leanne Foster, Emma Henry, Pauline Taggart, Coskun F. Ozkececi, Esra Kurt, Gokalp Basbozkurt, Daiva Gorczyca, Jacek Postępski, Aleksandra Czajkowska, Bogumiła Szponar, Mariola Paściak, Anna Gruenpeter, Iwona Lachór-Motyka, Daria Augustyniak, Edyta Olesińska, Emediong S. Asuka, Tatyana Golovko, Samuel U. Aliejim, Emilio Inarejos Clemente, Estibaliz Iglesias Jimenez, Joan Calzada Hernandez, Sergi Borlan Fernandez, Clara Gimenez Roca, David Moreno Romo, Natalia Rodriguez Nieva, Juan Manuel Mosquera Angarita, Jordi Anton Lopez, Esmeralda Nuñez-Cuadros, Gisela Diaz-Cordovés, Rocío Galindo-Zavala, Antonio Urda-Cardona, Antonio Fernández-Nebro, Daniel Álvarez de la Sierra, Marina Garcia Prat, Mónica Martínez Gallo, Ricardo Pujol Borrell, Ana M. Marín Sánchez, Etienne Merlin, Sylvie Fraitag, Jean-Louis Stephan, Federico Annoni, Giancarla Di Landro, Sofia Torreggiani, Marta Torcoletti, Georgina Tiller, Jo Buckle, Angela Cox, Peter Gowdie, Roger C. Allen, Jonathan D. Akikusa, Hayde G. Hernández-Huirache, Edel R. Rodea-Montero, William Fahy, Christelle Sordet, Karin B. Berggren, Johanna T. Kembe, Joyce Bos, Wineke Armbrust, Marco van Brussel, Jeanette Cappon, Pieter Dijkstra, Jan Geertzen, Elizabeth Legger, Marion van Rossum, Pieter Sauer, Otto Lelieveld, Levent Buluc, Gur Akansel, Bahar Muezzinoglu, Ljubov Rychkova, Tatyana Knyazeva, Anna Pogodina, Tatyana Belova, Tamara Mandzyak, Ekaterina Kulesh, Alessandro Cafarotti, Cosimo Giannini, Roberta Salvatore, Giuseppe Lapergola, Caterina Di Battista, Maria Loredana Marcovecchio, Raffaella Basilico, Piernicola Pelliccia, Francesco Chiarelli, Luciana Breda, Beverley Almeida, Sarah Tansley, Harsha Gunawardena, Neil McHugh, Juvenile Dermatomyositis Research Group (JDRG), Jessie Aouizerate, Marie De Antonio, Christine Barnerias, Guillaume Bassez, Isabelle Desguerre, Romain Gherardi, Jean-Luc Charuel, François-Jérôme Authier, Cyril Gitiaux, C. H. Spencer, Rabheh Abdul Aziz, Chack-Yung Yu, Brent Adler, Sharon Bout-Tabaku, Katherine Lintner, Melissa Moore-Clingenpeel, Liza McCann, Nicola Ambrose, Mario Cortina-Borja, Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS), Prasad T. Oommen, Fabian Speth, Johannes-Peter Haas, Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR), Claudio Lavarello, Gabriella Giancane, Angela Pistorio, Lisa Rider, Rohit Aggarwal, Sheila K. Oliveira, Ruben Cuttica, Michel Fischbach, Gary Sterba, Karine Brochard, Frank Dressler, Patrizia Barone, Ruben Burgos-Vargas, Elizabeth Candell Chalom, Marine Desjonqueres, Graciela Espada, Anders Fasth, Stella Maris Garay, Rose-Marie Herbigneaux, Claire Hoyoux, Chantal Job Deslandre, Frederick W. Miller, Jiri Vencovsky, Erdal Sag, Gulsev Kale, Haluk Topaloglu, Beril Talim, Francesco Zulian, Tadej Avcin, Roberto Marini, Anne Pagnier, Michel Rodiere, Christine Soler, Rebecca Ten Cate, Yosef Uziel, Jelena Vojinovic, Ana V. Villarreal, Nydia Acevedo, Yuridiana Ramirez, Enrique Faugier, Rocio Maldonado, Bita Arabshahi, John H. Lee, Ian Leibowitz, Lawrence O. Okong’o, Jo Wilmshurst, Monika Esser, Christiaan Scott, Ezgi Deniz Batu, Nagehan Emiroglu, Hafize Emine Sonmez, Gokcen Dilsa Tugcu, Zehra Serap Arici, Ebru Yalcin, Deniz Dogru, Ugur Ozcelik, Mithat Haliloglu, Nural Kiper, Masato Yashiro, Mutsuko Yamada, Toshihiko Yabuuchi, Tomonobu Kikkawa, Nobuyuki Nosaka, Yosuke Fujii, Yukie Saito, Hirokazu Tsukahara, Sulaiman M. Al-Mayouf, Nora AlMutiari, Mohammed Muzaffer, Rawiah shehata, Adel Al-Wahadneh, Reem Abdwani, Safia Al-Abrawi, Mohammed Abu-shukair, Zeyad El-Habahbeh, Abdullah Alsonbul, Aleksandra Szabat, Monika Chęć, Violetta Opoka-Winiarska, Biman Saikia, Ranjana W. Minz, Christine Arango, Clara Malagon, Maria D. P. Gomez, Angela C. Mosquera, Ricardo Yepez, Tatiana Gonzalez, Camilo Vargas, GRIP study group, Marta Balzarin, Biagio Castaldi, Elena Reffo, Francesca Sperotto, Giorgia Martini, Alessandra Meneghel, Ornella Milanesi, Ozgur Kasapçopur, Maria Teresa Terreri, Ekaterina Alexeeva, Maria Katsicas, Mikhail Kostik, Thomas Lehman, W.-Alberto Sifuentes-Giraldo, Vanessa Smith, Flavio Sztajnbok, Tadey Avcin, Maria Jose Santos, Dana Nemcova, Cristina Battagliotti, Liora Harel, Mahesh Janarthanan, Kathryn Torok, Nicola Helmus, Eileen Baildem, Michael Blakley, Kim Fligelstone, Antonia Kienast, Clare Pain, Amanda Saracino, Gabriele Simoni, Lisa Weibel, Maria K. Osminina, Nathalia A. Geppe, Olga V. Niconorova, Olesya V. Karashtina, Oksana V. Abbyasova, Olga V. Shpitonkova, Sinem Durmus, Hafize Uzun, Angela Mauro, Eleonora Fanti, Fabio Voller, Franca Rusconi, Fernando Garcia-Rodriguez, Ana V. Villarreal-Treviño, Angel J. Flores-Pineda, Paola B. Lara-Herrea, Diego R. Salinas-Encinas, Talia Diaz-Prieto, Maria R. Maldonado-Velazquez, Sarbelio Moreno-Espinosa, Enrique Faugier-Fuentes, Mirella Crapanzano, Ilaria Parissenti, Man S. Parihar, Pandiarajan Vignesh, ManojKumar Rohit, Kavitha Gopalan, Savita V. Attri, Alan Salama, David Jayne, Mark Little, Yulia Kostina, Galina Lyskina, Olga Shpitonkova, Alena Torbyak, Olga Shirinsky, Maria Francesca Gicchino, Maria Cristina Smaldone, Mario Diplomatico, Alma Nunzia Olivieri, C H. Spencer, Richard McClead, Hiren Patel, Chung-Yung Yu, Dita Cebecauerová, Tomáš Dallos, Edita Kabíčková, Martin Kynčl, Daniela Chroustová, Jozef Hoza, Dana Němcová, Vladimír Tesař, Pavla Doležalová, Tuncay Hazirolan, Fatih Ozaltin, Fabiola Almeida, Isabela H. Faria de Paula, Maíra M. Sampaio, Fernando N. Arita, Andressa G. Alves, Maria Carolina Santos, Eunice M. Okuda, Silvana B. Sacchetti, Fernanda Falcini, Marini Francesca, Gemma Lepri, Marco Matucci-Cerinic, Maria Luisa Brandi, Hakan Kisaoglu, Sema Misir, Selim Demir, Yuksel Aliyazicioglu, Mukaddes Kalyoncu, Carlos Eduardo Ramalho, Fabiola D. Almeida, Joan Calzada-Hernández, Rosa Bou, Estíbaliz Iglesias, Judith Sánchez-Manubens, Fredy Hermógenes Prada Martínez, Clara Giménez Roca, Sergi Borlan Fernández, Marek Bohm, Kamran Mahmood, Valentina Leone, Mark Wood, Ken-Ichi Yamaguchi, Satoshi Fujikawa, Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ), Kyu Yeun Kim, Do Young Kim, Dong Soo Kim, Maka Ioseliani, Ivane Chkhaidze, Maia Lekishvili, Nana Tskhakaia, Shorena Tvalabeishvili, Aleksandre Kajrishvili, Maiko Takakura, Masaki Shimizu, Natsumi Inoue, Mao Mizuta, Akihiro Yachie, Giovanni Corsello, Maryam Piram, Carla Maldini, Sandra Biscardi, Nathalie Desuremain, Catherine Orzechowski, Emilie Georget, Delphine Regnard, Isabelle Kone-Paut, Alfred Mahr, Mihaela Sparchez, Zeno Sparchez, Nydia Acevedo Silva, Ana V. Villarreal Treviño, Yuridiana Ramirez Loyola, Talia Diaz Prieto, Enrique Faugier Fuentes, Maria D. R. Maldonado Velazquez, Pilar Perez, Sagar Bhattad, Ranjana Minz, Jitendra Shandilya, Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh, Ana Villarreal, Yuridiana Ramírez, Zeynep Birsin Özçakar, Suat Fitoz, Fatos Yalcinkaya, Annacarin Horne, Francesca Minoia, Francesca Bovis, Sergio Davi, Priyankar Pal, Kimo Stein, Sandra Enciso, Michael Jeng, Despoina Maritsi, Randy C. Cron, Anne Thorwarth, Sae Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Peter Krawitz, Nuray Aktay Ayaz, Doğan Simsek, Şebnem Sara Kılıc, Emine Sonmez, Aysenur Pac Kisaarslan, Ozge Altug Gucenmez, Z. Serap Arıcı, Fatih Kelesoglu, Zelal Ekinci Ekinci, Maria Miranda-Garcia, Carolin Pretzer, Michael Frosch, F. Gohar, Angela McArdle, Niamh Callan, Belinda Hernandez, Miha Lavric, Oliver FitzGerald, Stephen R. Pennington, Joachim Peitz, Joern Kekow, Ariane Klein, Anna C. Schulz, Frank Weller-Heinemann, Anton Hospach, J-Peter Haas, BIKER collaborative group, Karen Put, Jessica Vandenhaute, Anneleen Avau, Annemarie van Nieuwenhuijze, Ellen Brisse, Tim Dierckx, Omer Rutgeerts, Josselyn E. Garcia-Perez, Jaan Toelen, Mark Waer, Georges Leclercq, An Goris, Johan Van Weyenbergh, Adrian Liston, Patrick Matthys, Carine H. Wouters, Yasuo Nakagishi, Michael J. Ombrello, Victoria Arthur, Anne Hinks, Patricia Woo, International Childhood Arthritis Genetics (INCHARGE) Consortium, Barbara Stanimirovic, Biljana Djurdjevic-Banjac, Olivera Ljuboja, Boris Hugle, MArgarita Onoufriou, Olga Vougiouka, Kenza Bouayed, Sanae El Hani, Imane Hafid, Nabiha Mikou, Nunu Shelia, Mari Laan, Jaanika Ilisson, and Chris Pruunsild
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Pediatrics ,RJ1-570 ,Diseases of the musculoskeletal system ,RC925-935 - Published
- 2017
- Full Text
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177. Adoptitive immunotherapy with genetically engineered T lymphocytes modified to express chimeric antigen receptors
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A. А. Pavlova, M. А. Maschan, and V. B. Ponomarev
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oncohematological diseases ,adoptive therapy ,modified t-cells ,chimeric antigen receptor ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Significant mortality due to oncological diseases as a whole, and oncohematological diseases in particular, motivates scientific and medical community to develop new treatment methods. One of the newest methods is adoptive cell therapy using patient’s own T-cells modified to express chimeric antigen receptors (CAR) to tumor-specific antigens. Despite high cost and side effects of treatment, promising clinical trials even in patients with advanced disease allow to anticipate successful use of this method in clinical practice.The article includes a review of the main principles of this technique, published results of clinical studies of CAR T-cells with a focus on CD19 gene targeting, complications of this therapy, mechanisms of tumor resistance to CAR T-cells, and potential ways to overcome it.
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- 2017
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178. Immunophenotypic features of bone marrow tumor cell in Burkitt lymphoma/leukemia: B-lineage acute lymphoblastic leukemia diagnostics opportunities
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I. A. Demina, T. Yu. Verzhbitskaya, S. A. Kashpor, S. A. Plyasunova, M. E. Dubrovina, L. G. Fechina, N. V. Myakova, E. V. Samochatova, A. A. Maschan, and A. M. Popov
- Subjects
burkitt lymphoma/leukemia ,acute lymphoblastic leukemia ,flow cytometry ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Bone marrow tumor blasts immunophenotyping is an essential part of Burkitt lymphoma/leukemia (BL) and B-cell precursor acute lymphoblastic leukemia (BCP-ALL) differential diagnostics. Nevertheless immunoglobulin heavy and light chains detection on the cell surface could meet several biological and methodological pitfals. Thus the aim of the present study was development of additional BL immunophenotypic criteria. Leukemic blasts antigen profile in 21 BL cases and 84 children with BCP-ALL was compared in a retrospective way. Antigen expression patterns in BL and BCP-ALL were significantly different. It was shown that even in cases with weak immunoglobulin M expression these two tumor types could be distinguished well by complex immunophenotype analysis. In present study all cases of CD34-negative B-lineage ALL without myeloid coexpression and with high CD20-positive cells proportion belonged to BL.
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- 2017
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179. ANTIBODY-FREE CHIMERIC FLT3-CAR RECEPTOR FOR TARGETING THE FLT3 RECEPTOR, A MARKER OF POOR PROGNOSIS IN ACUTE MYELOID LEUKEMIA
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Larin, S.S., Maschan, M.A., Kibardin, A.V., Pershin, D.E., Kulakovskaya, E.A., Vikhreva, P.N., Mollaev, M.D., and Mayorova, V.E.
- Abstract
Therapy in acute myeloid leukemia (AML) usually begins with a course of induction chemotherapy using anthracyclines and cytarabine to eliminate blast cells. Chemotherapy is a necessary step in preparing a patient for transplantation of donor hematopoietic stem cells (HSCs). However, leukemia stem cells often show their chemoresistance and initiate the AML recurrence. Specific elimination of the leukemic stem cells during the preparation of a patient for HSC transplantation may reduce the probability of recurrence. For this purpose, an active development of chimeric antigen receptors (CAR) to address various markers of AML is being in progress.
- Published
- 2022
180. Eltrombopag in Pediatric Patients with Previously Untreated or Refractory/Relapsed Severe Aplastic Anemia: The Phase II Escalate Trial
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Akiko Shimamura, Alexey Maschan, Carolyn Bennett, Jason E Farrar, Sujith Samarasinghe, Brigitte Strahm, Winfred C. Wang, Adrianna Vlachos, Charlotte M. Niemeyer, Timothy S. Olson, Denise D'Alessio, Elise Burmeister Getz, Tomasz Lawniczek, Yunnan Xu, and David A. Williams
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Immunology ,Cell Biology ,Hematology ,Biochemistry - Published
- 2022
181. The use of adoptive cell therapy for the treatment of SARS-CoV-2 in a patient after allogeneic hematopoietic stem cell transplantation
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M. E. Leontyeva, E. R. Sultanova, S. A. Radygina, Yu. V. Skvortsova, Ya. O. Muzalevskiy, E. E. Kurnikova, D. E. Pershin, M. A. Maschan, and D. N. Balashov
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Oncology ,Immunology ,Pediatrics, Perinatology and Child Health ,Immunology and Allergy ,Hematology - Abstract
The COVID-19 pandemic continues to be a major public health threat worldwide. The course of this disease in immunocompromised patients is significantly different from that in healthy subjects, which is associated with the impossibility of virus elimination through their own adaptive immune response. Delayed immune reconstitution after hematopoietic stem cell transplantation (which may take months after the procedure) increases the risk of life-threatening COVID-19 infection necessitating a search for and application of new methods of treatment. T lymphocytes are critically important for viral infection control, and are necessary both for the direct elimination of Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
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- 2022
182. Mutated Flt3Lg Provides Reduced Flt3 Recycling Compared to Wild-Type Flt3Lg and Retains the Specificity of Flt3Lg-Based CAR T-Cell Targeting in AML Models
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Maiorova, Varvara, primary, Mollaev, Murad D., additional, Vikhreva, Polina, additional, Chudakov, Dmitriy M., additional, Kibardin, Alexey, additional, Maschan, Michael A., additional, and Larin, Sergey, additional
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- 2023
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183. Approaches to the treatment of a multisystem form of juvenile xanthogranuloma with central nervous system lesion
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Natrusova, M. V., primary, Burtsev, E. A., additional, Bronina, N. V., additional, Osipova, D. S., additional, Evseev, D. A., additional, Seliverstova, E. V., additional, Bronin, G. O., additional, Maschan, M. A., additional, and Kumirova, Е. V., additional
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- 2023
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184. RESULTS OF A COMPARATIVE PHRMACOECONOMICS ANALYSIS OF STRATEGIES FOR THE PREVENTION OF GRAFT-VERSUS-HOST DISEASE IN CHILDREN WITH HEMATOLOGICAL MALIGNANCES: A SINGLE CENTER EXPERIENCE
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Abrosimov, Andrei B., primary, Blinov, Dmitry S., additional, Blinova, Ekaterina V., additional, and Maschan, Mikhail A., additional
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- 2023
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185. Graft-versus-host disease and relapse/rejection-free survival after allogeneic transplantation for idiopathic severe aplastic anemia: a comprehensive analysis from the SAAWP of the EBMT.
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Devillier, Raynier, primary, Eikema, Dirk-Jan, additional, Dufour, Carlo, additional, Aljurf, Mahmoud, additional, Wu, Depei, additional, Maschan, Alexei, additional, Kulagin, Alexander, additional, Halkes, Constantijn J.M., additional, Collin, Matthew, additional, Snowden, John, additional, Renard, Cécile, additional, Ganser, Arnold, additional, Sykora, Karl-Walter, additional, Gibson, Brenda E, additional, Maertens, Johan, additional, Itäla-Remes, Maija, additional, Corti, Paola, additional, Cornelissen, Jan, additional, Bornhäuser, Martin, additional, Araujo, Mercedes Colorado, additional, Ozdogu, Hakan, additional, Risitano, Antonio, additional, Socie, Gerard, additional, and De Latour, Regis Peffault, additional
- Published
- 2023
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186. Flow cell sorting followed by PCR ‐based clonality testing may assist in questionable diagnosis and monitoring of acute lymphoblastic leukemia
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Semchenkova, Alexandra, primary, Zhogov, Vladimir, additional, Zakharova, Elena, additional, Mikhailova, Ekaterina, additional, Illarionova, Olga, additional, Larin, Sergey, additional, Novichkova, Galina, additional, Karachunskiy, Alexander, additional, Maschan, Michael, additional, and Popov, Alexander, additional
- Published
- 2023
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187. The role of blinatumomab in the treatment of B-cell relapses of acute lymphoblastic leukemia in children: own experience
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Vavilova, L. A., primary, Dyakonova, Yu. Yu., additional, Bydanov, O. I., additional, Myakova, N. V., additional, Abugova, Yu. G., additional, Anderzhanova, L. Kh., additional, Evstratov, D. A., additional, Kurnikova, E. E., additional, Popov, A. M., additional, Olshanskaya, Yu. V., additional, Maschan, M. A., additional, Shelikhova, L. N., additional, Litvinov, D. V., additional, Popa, A. V., additional, and Karachunskiy, A. I., additional
- Published
- 2023
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188. Correlation of the surface expression of thymic stromal lymphopoietin receptor with the presence ofCRLF2gene rearrangements in children with B‐lineage acute lymphoblastic leukemia
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Demina, Irina, primary, Zerkalenkova, Elena, additional, Soldatkina, Olga, additional, Kazakova, Anna, additional, Semchenkova, Alexandra, additional, Goncharova, Maria, additional, Novichkova, Galina, additional, Maschan, Michael, additional, Karachunskiy, Alexander, additional, Olshanskaya, Yulia, additional, and Popov, Alexander, additional
- Published
- 2023
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189. The long-term efficacy and safety of nilotinib in pediatric patients with CML:a 5-year update of the DIALOG study
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Hijiya, Nobuko, Maschan, Alexey, Rizzari, Carmelo, Shimada, Hiroyuki, Dufour, Carlo, Goto, Hiroaki, Kang, Hyoung Jin, Guinipero, Terri, Karakas, Zeynep, Bautista, Francisco, Ducassou, Stéphane, Yoo, Keon Hee, Zwaan, Christian Michel, Millot, Frédéric, Patterson, Briana C., Samis, Jill, Izquierdo, Miguel, Titorenko, Ksenia, Li, Sai, Sosothikul, Darintr, Hijiya, Nobuko, Maschan, Alexey, Rizzari, Carmelo, Shimada, Hiroyuki, Dufour, Carlo, Goto, Hiroaki, Kang, Hyoung Jin, Guinipero, Terri, Karakas, Zeynep, Bautista, Francisco, Ducassou, Stéphane, Yoo, Keon Hee, Zwaan, Christian Michel, Millot, Frédéric, Patterson, Briana C., Samis, Jill, Izquierdo, Miguel, Titorenko, Ksenia, Li, Sai, and Sosothikul, Darintr
- Abstract
The efficacy and safety of nilotinib in pediatric patients with imatinib/dasatinib resistant/ intolerant (R/I) or newly diagnosed (ND) Philadelphia chromosome–positive (Ph+) chronic myeloid leukemia in chronic phase (CML-CP) was demonstrated in the phase 2, open-label DIALOG study. In this final analysis, long-term efficacy and safety are presented for patients who completed 66 cycles (of 28 days) of treatment with nilotinib (230 mg/m2 twice daily) or discontinued early. Overall, 59 patients were enrolled and 58 were treated (R/I, n = 33; ND, n = 25; median time on treatment: 60.5 and 51.9 months, respectively). In the R/I cohort, the cumulative major molecular response (MMR; BCR::ABL1 international scale [IS] ≤ 0.1%) rate was 60.6%, and no patients had a confirmed loss of MMR. Among ND patients, the best overall MMR rate was 76.0%; 3 patients had a confirmed loss of MMR. The cumulative molecular response MR4 (BCR::ABL1IS ≤ 0.01%) and MR4.5 (BCR::ABL1IS ≤ 0.0032%) rates by 66 cycles were 27.3% and 12.1% in the R/I cohort, and 56.0% and 44.0% in the ND cohort, respectively. The safety profile of nilotinib was consistent with those of earlier reports. No on-treatment deaths occurred. These long-term (up to ~5 years) data support the efficacy and safety of nilotinib in pediatric patients with Ph+ CML-CP. This trial was registered at www.clinicaltrials.gov.uk as #NCT01844765.
- Published
- 2023
190. Graft-versus-host disease and relapse/rejection-free survival after allogeneic transplantation for idiopathic severe aplastic anemia:a comprehensive analysis from the SAAWP of the EBMT
- Author
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Devillier, Raynier, Eikema, Dirk Jan, Dufour, Carlo, Aljurf, Mahmoud, Wu, Depei, Maschan, Alexei, Kulagin, Alexander, Halkes, Constantijn J.M., Collin, Matthew, Snowden, John, Renard, Cécile, Ganser, Arnold, Sykora, Karl Walter, Gibson, Brenda E., Maertens, Johan, Itäla-Remes, Maija, Corti, Paola, Cornelissen, Jan, Bornhäuser, Martin, Araujo, Mercedes Colorado, Ozdogu, Hakan, Risitano, Antonio, Socie, Gerard, Peffault de Latour, Regis, Devillier, Raynier, Eikema, Dirk Jan, Dufour, Carlo, Aljurf, Mahmoud, Wu, Depei, Maschan, Alexei, Kulagin, Alexander, Halkes, Constantijn J.M., Collin, Matthew, Snowden, John, Renard, Cécile, Ganser, Arnold, Sykora, Karl Walter, Gibson, Brenda E., Maertens, Johan, Itäla-Remes, Maija, Corti, Paola, Cornelissen, Jan, Bornhäuser, Martin, Araujo, Mercedes Colorado, Ozdogu, Hakan, Risitano, Antonio, Socie, Gerard, and Peffault de Latour, Regis
- Abstract
Survival after allogeneic hematopoietic stem cell transplantation (allo-HSCT) for severe idiopathic aplastic anemia (SAA) has improved in recent years, approaching 75% at 5 years. However, an SAA-adapted composite endpoint, graft-versus-host disease (GvHD) and relapse/rejection-free survival (GRFS), may more accurately assess patient outcomes beyond survival. We analyzed GRFS to identify risk factors and specific causes of GRFS failure. Our retrospective analysis from the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation included 479 patients with idiopathic SAA who underwent allo-HSCT in two conventional situations: i) upfront allo-HSCT from a matched related donor (MRD) (upfront cohort), and ii) allo-HSCT for relapsed or refractory SAA (rel/ref cohort). Relevant events for GRFS calculation included graft failure, grade 3-4 acute GvHD, extensive chronic GvHD, and death. In the upfront cohort (n=209), 5-year GRFS was 77%. Late allo-HSCT (i.e., >6 months after SAA diagnosis) was the main poor prognostic factor, specifically increasing the risk of death as the cause of GRFS failure (hazard ratio [HR]=4.08; 95% confidence interval [CI]: 1.41-11.83; P=0.010). In the rel/ref cohort (n=270), 5-year GRFS was 61%. Age was the main factor significantly increasing the risk of death (HR=1.04; 95% CI: 1.02-1.06; P<0.001), acute GvHD (HR=1.03; 95% CI: 1.00-1.07; P=0.041), and chronic GvHD (HR=1.04; 95% CI: 1.01-1.08; P=0.032) as the cause of GRFS failure. GRFS after upfront MRD allo-HSCT was very good, notably with early allo-HSCT, confirming that younger patients with an MRD should be transplanted immediately. GRFS was worse in cases of salvage allo-HSCT, most notably in older patients, questioning the utility of allo-HSCT earlier in the disease course.
- Published
- 2023
191. Vemurafenib provides a rapid and robust clinical response in pediatric Langerhans cell histiocytosis with the BRAF V600E mutation but does not eliminate low-level minimal residual disease per ddPCR using cell-free circulating DNA
- Author
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Zalina Abashidze, Anna Mitrofanova, Elena Raykina, Daria Osipova, Irina Kalinina, Michael Maschan, Anna Ignatova, Dmitry Evseev, Galina Novichkova, and Alexey Maschan
- Subjects
Male ,Proto-Oncogene Proteins B-raf ,Oncology ,medicine.medical_specialty ,Neoplasm, Residual ,Antineoplastic Agents ,Disease ,Polymerase Chain Reaction ,Sepsis ,Langerhans cell histiocytosis ,Internal medicine ,medicine ,Humans ,Vemurafenib ,Protein Kinase Inhibitors ,Alleles ,Hematology ,business.industry ,Infant ,medicine.disease ,Minimal residual disease ,Histiocytosis, Langerhans-Cell ,Histiocytosis ,Treatment Outcome ,Amino Acid Substitution ,Child, Preschool ,Mutation ,Toxicity ,Female ,business ,medicine.drug - Abstract
Langerhans cell histiocytosis (LCH) is a disease that arises from myeloid cells that phenotypically resemble Langerhans cells (LC), which is typically driven by the BRAF V600E mutation. High-risk LCH has a poor prognosis. Fifteen children with BRAF V600E + LCH received vemurafenib between March 2016 and February 2020. The median age at LCH onset was 2 months and the median age at the start of vemurafenib treatment was 22 months. The median disease activity score (DAS) at the start of vemurafenib treatment was 12 points. The median duration of vemurafenib treatment was 29 months. All patients responded to treatment, with median DAS of 4 points at week 4 and 1 point at 6 months. Two patients died: 1 of hepatic failure after NSAID overdose and 1 of neutropenic sepsis. Cessation of vemurafenib resulted in relapse in 5 patients and was only possible for 1 patient. Serial measurements of BRAF V600E using cell-free circulating DNA revealed that 7 patients had persistently high mutant allele levels. Vemurafenib is effective in children with BRAF V600E + LCH. However, treatment with vemurafenib does not eradicate the disease and its long-term toxicity has not been established.
- Published
- 2021
192. Late non-infectious lung damage in children after allogeneic hematopoietic stem cells transplantation
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Yu. V. Skvortsova, A. E. Rudneva, V. M. Delyagin, Yu. A. Lerkhendorf, G. V. Tereshchenko, D. N. Balashov, M. A. Maschan, and A. A. Maschan
- Subjects
hematopoietic stem cell transplantation ,late complications after hematopoietic stem cells transplantation ,chronic non-infectious lung disease ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Hematopoietic stem cells transplantation (HSCT) technology currently allows curing a lot of malignant and non-malignant diseases in adults and children. However, HSCT is highly toxic treatment. HSCT complications include the possibility of prolonged immunodeficiency, alloand autoimmune reactions and various organs dysfunction. These conditions require careful monitoring by specialists, early diagnosis and appropriate treatment. This article discusses the clinical features, diagnosis and treatment options of such late complications as non-infectious lung disease. These conditions can lead to disability of patients. Relevance and importance of timely diagnosis of these pathological conditions, including the range of clinical tests available on a residence, with a view to effective treatment can improve the quality of life ofchildren with complications after HSCT. Theoretical issues are illustrated by case report.
- Published
- 2015
193. Use of plerixafor for hematopoietic stem cells mobilization in allograft donors
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D. N. Balashov, E. E. Kurnikova, M. A. Maschan, Yu. V. Skvortsov, L. N. Shelikhova, P. E. Trakhtman, E. V. Boyakova, E. V. Skorobogatova, G. A. Novichkova, and A. A. Maschan
- Subjects
plerixafor ,G-CSF ,allogeneic transplantation ,hematopoietic stem cells ,mobilization ,alternative technology ,donors ,apheresis ,efficacy ,safety ,side effects ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Unsuccessful mobilization of hematopoietic stem cells (HSCs) before apheresis in allograft donor is a factor adversely affecting the characteristics of the obtained cell product and, as a consequence, the therapy outcome. This study investigates the efficacy and safety of plerixafor as an additional alternative drug for HSCs mobilization after nsuccessful mobilization using G-CSF. Mobilization of HSC in all cases was performed using a preparation of G-CSF during 5 days. The ineffectiveness of this in 17 donors was revealed on the fourth day from the beginning of the mobilization, and therefore plerixafor was administered to all donors in this cohort 11–12 hours before cytapheresis. Use of plerixafor allowed obtaining a transplant with good cellular characteristics in all cases. Plerixafor safety profile comparable with GCSF has also been demonstrated. Based on the results of this study it was concluded about efficacy and feasibility of plerixafor as “rescue” therapy after unsuccessful mobilizationwith G-CSF.
- Published
- 2015
194. Clinical and microbiological characteristics of bacteremia caused by Streptococcus viridans in children with hematologic malignancies
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M. V. Panina, G. A. Klyasova, G. A. Novichkova, N. V. Myakova, D. V. Litvinov, D. D. Baydildina, M. A. Maschan, and A. A. Maschan
- Subjects
children ,hematological and oncological diseases ,febrile neutropenia ,bacteremia ,Streptococcus viridans ,respiratory distress ,“streptococcal shock” ,AML ,risk factors ,cytosine arabinoside high dose ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Bacteremia caused by Streptococcus viridans may be fulminant in neutropenic patients. The clinical signs of streptococcal bacteremiain neutropenic patients are obvious, but non-specific, and are characterized by fever, pulmonary symptoms (pneumonia, respiratory distress syndrome) in 20–25 % of cases, hemodynamic instability (about 30 % of cases), rash and followed desquamation, in rare cases – neurological disorders (encephalopathy). Perhaps the main difference from other bacteremia in immunocompromised patients is approximately 10 times higher risk of rapid (during the first two days) development of acute lung injury with hypoxemia often requiring oxygen subsidies and respiratory support. Frequency, clinical characteristics and outcomes of streptococcal bacteremia, as well as the spectrum of antibiotics sensitivity was retrospective analyzed in this study. From 2003 to 2009 in children with various oncological and hematological diseases and febrile neutropenia 265 microorganisms were isolated from blood cultures, including Gram-positive in 113 (42 %) patients. Strains of Streptococcus viridans, isolated at least once from blood (central venous catheter and / or peripheral veins), are included in analysis. Streptococcus viridans were isolated from the blood of 20 patients, accounting for 7.5 % of the total number of bacteremia and 17.7 % of gram-ositive bacteremia. Patients with acute myeloid leukemia (AML) accounted for 45 % of all patients with streptococcal bacteremia, but the incidence of streptococcal bacteremia in AML patients was 8.7 % and did not differ from patients with other diagnoses. 11 (55 %) from 20 patients have mucositis at diagnosis of bacteremia, in 14 patients (70 %) prior chemotherapy included high dose of cytosine arabinoside. All patients with streptococcal bacteremia have severe neutropenia (median 70 cells / mkl) and characterized by fever (100 %), septic shock (8 patients, 40 %) and RDS (7 patients, 35 %) required high doses of steroids (7 patients; 100 %) and ALV (2 patients; 10 %). All patients survived. In 13 (65 %) patients primary empirical therapy contained antibiotics effective against Streptococcus viridans. All strains were susceptible to vancomycin, linezolid and levofloxacin; 90 % and 95 % of strains – to ceftriaxone and cefepime, respectively; 80 % – to penicillin; 50 % – to oxacillin and 35 % – to trimethoprim / sulfomethoxazol.
- Published
- 2015
195. Flow cell sorting followed by <scp>PCR</scp> ‐based clonality testing may assist in questionable diagnosis and monitoring of acute lymphoblastic leukemia
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Alexandra Semchenkova, Vladimir Zhogov, Elena Zakharova, Ekaterina Mikhailova, Olga Illarionova, Sergey Larin, Galina Novichkova, Alexander Karachunskiy, Michael Maschan, and Alexander Popov
- Subjects
Biochemistry (medical) ,Clinical Biochemistry ,Hematology ,General Medicine - Published
- 2023
196. Chimeric antigen receptor T-cell therapy in adult patients with B-cell lymphoproliferative diseases
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O. A. Gavrilina, G. M. Galstyan, A. E. Shchekina, E. S. Kotova, M. A. Maschan, V. V. Troitskaya, D. A. Koroleva, E. E. Zvonkov, Z. T. Fidarova, V. A. Vasilyeva, and E. N. Parovichnikova
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Hematology - Abstract
Introduction. The introduction of chimeric antigen receptor (CAR) T-cell therapy is a promising treatment of patients with relapsed or refractory (R/R) B-cell lymphoproliferative diseases (LPDs).Aim — to present the results of CAR-T-cell therapy of 6 adult patients with B-cell LPDs.Materials and methods. This is a pilot study conducted in adult patients with R/R or persistent minimal residual disease B-cell LPDs treated with CAR-T-cells. The study was approved by a local ethical committee of National Research Center for Hematology. Patients did not have alternative options for effective and safe treatment. All patients signed an informed consent. All patients were lymphodeplated with fl udarabine and cyclophosphamide for 4 days before the introduction of CAR-T-lymphocytes. Cytokine release syndrome (CRS) was prevented by tocilizumab on the day of CAR-T-cell administration. The effi cacy and safety of CAR-T-cell therapy was evaluated.Results. From 01.01.2020 to 01.01.2022, 10 CAR-T-cell infusions were performed for 6 adult patients (age 19–68 years, median — 32 years) with B-cell LPDs: 4 — R/R B-acute lymphoblastic leukemia, 1 — R/R diffuse large B-cell lymphoma, 1 — persistence of MRD in mantle cell lymphoma. In all patients with a R/R, median — 4 (2–5) lines of chemotherapy and/ or immunotherapy were performed before CAR-T-cell therapy. CD19 CAR-T-cells received 3 patients, CD19/CD22 CAR-Tcells — 2 patients, CD19 and CD20 CAR-T-cells received 1 patient. Autologous CAR-T-cells received 4 (66 %) patients, allogeneic CAR-T-cells received 1 patient, and one patient had two CAR-T-cell administrations — 1 autologous and 1 allogeneic. The median number of CAR-T-cells was 0.5 × 106 /kg (from 0.1 × 106 /kg to 3 × 106 /kg). In 7 (87.5 %) of the 8 cases after CAR-T-cell administration, overall response to therapy (complete or partial remission) was achieved, and complete remission was achieved in 6 (75 %) cases. Side effects were noted after 8 of 10 CAR-T-cell transfusions: CRS in 40 % (CRS 1 — 10 %, CRS 2 — 20 %, CRS 3 — 10 %), ICANS in 10 %, tumor lysis syndrome in 20 %, multi-organ dysfunction syndrome in 10 %. There were no lethal complications due to CAR-T-cell administrations. The median follow-up period was 6 (1–16) months. Of the 6 patients, 2 (33 %) died from relapses and progression of LPD. One (17 %) patient died in complete remission from infectious complications. Three (50 %) patients are observed till now. The median time of CAR-T-cell circulation was 33 (6– 60) days.Conclusion. CAR-T-cell therapy is a promising treatment for R/R B-cell LPDs and LPDs with persistence of MRD after cytoreductive therapy. This type of therapy requires a multidisciplinary approach.
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- 2022
197. CNS relapse of B-lymphoblastic lymphoma after allogeneic hematopoietic stem cell transplantation: therapy with donor CD19-specific CAR-T cells
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A. A. Maschan, O. O. Molostova, Alexander Popov, D. E. Pershin, M. A. Klimentova, Mikhail Maschan, M. E. Dubrovina, and L. N. Shelikhova
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Oncology ,medicine.medical_specialty ,medicine.medical_treatment ,Immunology ,Population ,Hematopoietic stem cell transplantation ,03 medical and health sciences ,0302 clinical medicine ,Immunophenotyping ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Immunology and Allergy ,education ,B Lymphoblastic Lymphoma ,Chemotherapy ,education.field_of_study ,business.industry ,Retrospective cohort study ,Hematology ,Immunotherapy ,medicine.disease ,Lymphoma ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,business ,030215 immunology - Abstract
Presently, there is no consensus on the best treatment for relapsed B-cell acute lymphoblastic leukemia/lymphoma after allogeneic hematopoietic stem cell transplantation (allo-HSCT), particularly in patients with extramedullary lesions. There are certain anti-tumor drugs that can be used in case of relapse after allo-HSCT, however, prospective randomized studies directly comparing different chemotherapy and immunotherapy approaches are generally lacking. Retrospective studies exploring therapy for relapsed disease are difficult to compare due to the inhomogeneity of patient populations and the diversity of treatment approaches. In such situations, the treatment choice is influenced by the characteristics of the tumor population, particularly, its immunophenotype, available drugs, and the experience of a healthcare facility and physicians. This clinical case report describes the process of treating a patient with B-lymphoblastic lymphoma and shows the possibility of using donor CD19-specific CAR-T cells as a treatment for isolated CNS relapse after allo-HSCT. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.
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- 2021
198. TCR-alpha/beta and CD19 depletion and treosulfan-based conditioning regimen in unrelated and haploidentical transplantation in children with acute myeloid leukemia
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Maschan, M, Shelikhova, L, Ilushina, M, Kurnikova, E, Boyakova, E, Balashov, D, Persiantseva, M, Skvortsova, Y, Laberko, A, Muzalevskii, Y, Kazachenok, A, Glushkova, S, Bobrynina, V, Kalinina, V, Olshanskaya, Y, Baidildina, D, Novichkova, G, and Maschan, A
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- 2016
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199. Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome
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Laberko, Alexandra, Balashov, Dmitry, Deripapa, Elena, Soldatkina, Olga, Raikina, Elena, Maschan, Alexei, Novichkova, Galina, and Shcherbina, Anna
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- 2019
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200. Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)
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Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V. Davydova, Maria A. Gordukova, Dmitrii S. Abramov, Galina V. Pay, Larisa Shelikhova, Andrey P. Prodeus, Mikhail A. Maschan, Alexey A. Maschan, and Anna Shcherbina
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Nijmegen breakage syndrome ,hematopoietic stem cell transplantation ,T-cell excision circle ,kappa-deleting recombination excision circle ,malignancy ,granuloma ,Immunologic diseases. Allergy ,RC581-607 - Abstract
BackgroundNijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we report a prospective study of a cohort of Russian NBS patients.Methods35 Russian NBS patients of ages 1–19 years, referred to our Center between years 2012 and 2016, were prospectively studied.ResultsDespite the fact that in 80% of the patients microcephaly was diagnosed at birth or shortly thereafter, the average delay of NBS diagnosis was 6.5 years. Though 80% of the patients had laboratory signs of immunodeficiency, only 51% of the patients experienced significant infections. Autoimmune complications including interstitial lymphocytic lung disease and skin granulomas were noted in 34%, malignancies—in 57% of the patients. T-cell excision circle (TREC)/kappa-deleting recombination excision circle (KREC) levels were low in the majority of patients studied. Lower KREC levels correlated with autoimmune and oncological complications. Fifteen patients underwent hematopoietic stem cell transplantation (HSCT), 10 of them were alive and well, with good graft function. Three patients in the HSCT group and five non-transplanted patients died; tumor progression being the main cause of death. The probability of the overall survival since NBS diagnosis was 0.76 in the HSCT group and 0.3 in the non-transplanted group.ConclusionBased on our findings of low TRECs in most NBS patients, independent of their age, TREC detection can be potentially useful for detection of NBS patients during neonatal screening. KREC concentration can be used as a prognostic marker of disease severity. HSCT is a viable treatment option in NBS and should be especially considered in patients with low KREC numbers early on, before development of life-threatening complications.
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- 2017
- Full Text
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