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1. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Author

Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., and Hollak, C.E.M.

Published
2018
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2. GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

Author

Pession, A., Di Rocco, M., Venturelli, F., Tappino, B., Morello, W., Santoro, N., Giordano, P., Filippini, B., Rinieri, S., Russo, G., Girardi, K., Ruggiero, A., Galea, E., Antonucci, R., Tovaglieri, N., Porta, F., Tartaglione, I., Giona, F., Fagioli, F., Burlina, A., Mura, R., Russo, B., Tornesello, A., Menna, G., Russo, D., Caniglia, M., Schettini, S., Onofrillo, D., Ladogana, S., and Civino, A.

Subjects
Cytopenia, Splenomegaly, Lysosomal storage disease, Gaucher disease, Thrombocytopenia
Published
2023

3. Challenging Management of Severe Differentiation Syndrome in Pediatric Acute Promyelocytic Leukemia Treated with ATRA/ATO

Author

Molinaro A., Zanta D., Moleti M. L., Giona F., Conter V., Rizzari C., Biondi A., Testi A. M., Molinaro, A, Zanta, D, Moleti, M, Giona, F, Conter, V, Rizzari, C, Biondi, A, and Testi, A

Subjects
Infectious Diseases, Differentiation Syndrome, ATRA/ATO combination, Acute Promyelocytic Leukemia, Hematology, Children
Abstract

The ATRA/ATO combination treatment of acute promyelocytic leukemia (APL) represents a paradigm of successful targeted and chemotherapy-free treatment in oncology. This therapeutic strategy is aimed at sparing patients from chemotherapy toxicity, while maintaining an excellent survival with a low risk of relapse. Main induction treatment-related complications are differentiation syndrome (DS) and hyperleukocytosis, which is related to DS and its severity. In the period December 2019 – December 2020, 8 children with newly diagnosed APL underwent induction therapy with ATRA/ATO in our center. In patients with WBC≥10x109/L two doses of Gemtuzumab Ozogamicin (GO) were added. In case of severe DS or hyperleukocytosis the differentiating agents were discontinued, high dose dexamethasone (DXM) and/or hydroxyurea (HU) were recommended. Five patients presented WBC

Published
2021

8. Pediatric Mastocytosis: An Update

Author

Giona, F.

Subjects
Children, Mastocytosis, Skin involvement, Diseases of the blood and blood-forming organs, Review Article, RC633-647.5
Abstract

Mastocytosis is a rare clonal disorder, characterized by excessive proliferation and accumulation of mast cells (MC) in various organs and tissues. Cutaneous mastocytosis (CM), the most common form in children, is defined when MC infiltration is limited to the skin. Systemic mastocytosis (SM), the most common form in adults, is characterized by MC proliferation and accumulation in organs, such as bone marrow, lymph nodes, liver and spleen (1). Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis, resulting in enhancing MC survival and subsequent accumulation in organs and tissues (2,3). CM includes 3 forms: solitary mastocytoma, maculopapular cutaneous mastocytosis (MPCM) and diffuse cutaneous mastocytosis (DCM). In the majority of children with CM, skin lesions regress spontaneously around puberty; unfortunately, in a few cases, it is not a self-limiting disease (4). Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. Children with mastocytosis often suffer from MC mediator-related symptoms, the most common of which is itching, often triggered by rubbing the lesions. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers. Treatment with H1 and H2 histamine receptor blockers on demand, and the availability of epinephrine auto-injectors for the patients to use in case of severe anaphylactic reactions are recommended.

Published
2021

9. The proportion of different BCR-ABL1 transcript types in chronic myeloid leukemia. An international overview

Author

Baccarani, M, Castagnetti, F, Gugliotta, G, Rosti, G, Soverini, S, Albeer, A, Pfirrmann, M, Bekadja, Ma, Entasoltan, B, Nachi, M, Elghandour, A, El Sorady, M, Abdelfattah, R, El Nahass, Y, Samra, M, Azzazi, M, Elsobki, E, Moussa, M, Fahmy, O, Mattar, M, Shehata, Azmy, Se, (Azmy, E, 9 ), Emad), Bolarinwa, (Bolarinwa, Ra, ( 10 ), Rahman A., Eid, (Eid, S, Samir)( 11, ), Khelif, (Khelif, A, Abderrhaim)( 11, ), Hached, (Hached, F, Farhat)( 11, ), Menif, (Menif, S, Samia)( 12, ), Rahman, (Rahman, H, Hafizur)( 13, ), Huang, (Huang, Xj, Xiaojun)(, 14, 15, ), Jiang, (Jiang, Q, Qian)(, 14, (Ye, Yx, Yuanxin)( 16, ), Zhu, (Zhu, Hl, Huanling)( 16, ), Chen, (Chen, Sn, Suning)( 17, ), Varma, (Varma, N, Neelam)( 18, ), Ganesan, (Ganesan, P, Prasanth)( 19, ), Gundeti, (Gundeti, S, Sadashivudu)( 20, ), Malhotra, (Malhotra, H, Hemant)( 21, ), Radhakrishnan, (Radhakrishnan, Vs, ( 22 ), Vivek S., Kumar, (Kumar, L, Lalit)( 23, ), Sharawat, (Sharawat, Sk, Surender Kumar)( 23, ), Seth, (Seth, T, Tulika)( 24, ), Ausekar, (Ausekar, Bv, ( 25 ), B. V., Balasubramanian, (Balasubramanian, P, Poonkuzhali)( 26, ), Poopak, (Poopak, B, Behzad)(, 27, 28, ), Inokuchi, (Inokuchi, K, Koiti)( 29, ), Kim, (Kim, Dw, Dong-Wook)( 30, ), Kindi, Al, S (Al Kindi, Salam)( 31, ), Mirasol, (Mirasol, A, Angelina)( 32, ), Qari, (Qari, M, Mohammed)( 33, ), Goh, (Goh, Yt, Yeow Tee)( 34, ), Shih, (Shih, Ly, Lee-Yung)(, 35, 36, ), Branford, (Branford, S, Susan)(, 37, 38, ), Lion, (Lion, T, Thomas)( 39, ), Valent, (Valent, P, Peter)( 40, ), Burgstaller, (Burgstaller, S, Sonja)( 41, ), Thaler, (Thaler, J, Joseph)( 41, ), Labar, (Labar, B, Boris)( 42, ), Zadro, (Zadro, R, Renata)( 42, ), Mayer, (Mayer, J, Jiri)(, 43, 44, ), Zackova, (Zackova, D, Daniela)(, 43, Faber, (Faber, E, Edgar)( 45, ), Pallisgaard, (Pallisgaard, N, Niels)( 46, ), Xavier-Mahon, (Xavier-Mahon, F, Francois)( 47, ), Lippert, (Lippert, E, Eric)( 48, ), Cayuela, (Cayuela, Jm, Jean Michel)( 49, ), Rea, (Rea, D, Delphine)( 49, ), Millot, (Millot, F, Frederic)( 50, ), Suttorp, (Suttorp, M, Meinolf)( 51, ), Hochhaus, (Hochhaus, A, Andreas)( 52, ), Niederwieser, (Niederwieser, D, Dietger)( 53, ), Saussele, (Saussele, S, Susanne)( 54, ), Haferlach, (Haferlach, T, Torsten)( 55, ), Jeromine, (Jeromine, S, Sabine)( 55, ), Panayiotidis, (Panayiotidis, P, Panayiotis)(, 56, 57, ), Conneally, (Conneally, E, Eibhlin)( 58, ), Langabeer, (Langabeer, S, Steve)( 58, ), Nagler, (Nagler, A, Arnon)(, 59, 60, ), Rupoli, (Rupoli, S, Serena)( 61, ), Santoro, (Santoro, N, Nicola)( 62, ), Albano, (Albano, F, Francesco)( 63, ), Castagnetti, (Castagnetti, F, Fausto), Ottaviani, (Ottaviani, E, Emanuela)(, 64, 65, ), Rambaldi, (Rambaldi, A, Alessandro)(, 66, 67, ), Stagno, (Stagno, F, Fabio)( 68, ), Molica, (Molica, S, Stefano)( 69, ), Biagiotti, (Biagiotti, C, Caterina)( 70, ), Scappini, (Scappini, B, Barbara)( 70, ), Lemoli, (Lemoli, R, Roberto)( 71, ), Iurlo, (Iurlo, A, Alessandra)(, 72, 73, ), Pungolino, (Pungolino, E, Ester)( 74, ), Menna, (Menna, G, Giuseppe), Pane, (Pane, F, Fabrizio)( 76, ), Gottardi, (Gottardi, E, Enrico)(, 77, 78, ), Rege-Cambrin, (Rege-Cambrin, G, Giovanna)(, 77, Binotto, (Binotto, G, Gianni)( 79, ), Putti, (Putti, Mc, Maria Caterina)( 80, ), Falzetti, (Falzetti, F, Franca)( 81, ), Visani, (Visani, G, Giuseppe)( 82, ), Galimberti, (Galimberti, S, Sara)( 83, ), Musto, (Musto, P, Pellegrino)( 84, ), Abruzzese, (Abruzzese, E, Elisabetta)( 85, ), Breccia, (Breccia, M, Massimo)( 86, ), Giona, (Giona, F, Fiorina)( 86, ), Chiusolo, (Chiusolo, P, Patrizia)( 87, ), Sica, (Sica, S, Simona)( 87, ), Fava, (Fava, C, Carmen)( 88, ), Ferrero, (Ferrero, D, Dario)( 88, ), Tiribelli, (Tiribelli, M, Mario)( 89, ), Bonifacio, (Bonifacio, M, Massimiliano)( 90, ), Griskevicius, (Griskevicius, L, Laimonas)( 91, ), Musteata, (Musteata, V, Vasile)( 92, ), Janssen, (Janssen, J, Jeroen)( 93, ), Prejzner, (Prejzner, W, Witold)( 94, ), Sacha, (Sacha, T, Tomasz)( 95, ), Waclaw, (Waclaw, J, Joanna)( 95, ), Almeida, (Almeida, Am, Antonio Medina)( 96, ), Kulikov, (Kulikov, S, Sergei)( 97, ), Turkina, (Turkina, A, Anna)( 97, ), Bogdanovic, (Bogdanovic, A, Andrija)( 98, ), Zupan, (Zupan, I, Irena)( 99, ), Marce, (Marce, S, Silvia)( 100, ), Cervantes, (Cervantes, F, Francisco)( 101, ), Steegmann, (Steegmann, Jl, Juan Luis)( 102, ), Kotlyarchuk, (Kotlyarchuk, K, Konstyantyn)( 103, ), Milner, (Milner, Bj, ( 104 ), Benedict J., Rose, (Rose, S, Susan)( 105, ), Clench, (Clench, T, Tim)( 106, ), Waits, (Waits, P, Paula)( 107, ), Austin, (Austin, S, Steve)( 108, ), Wickham, (Wickham, C, Caroline)( 109, ), Clark, (Clark, R, Richard)( 110, ), Apperley, (Apperley, J, Jane), Claudiani, (Claudiani, S, Simone)( 111, ), Foroni, (Foroni, L, Letizia)( 111, ), Szydlo, (Szydlo, R, Richard)( 111, ), Burt, (Burt, E, Emma)( 112, ), Bescoby, (Bescoby, R, Ruth)( 113, ), Cork, (Cork, L, Leanne)( 113, ), O'Brien, (O'Brien, S, Stephen)( 113, ), Green, (Green, B, Bethaney)( 114, ), Hawtree, (Hawtree, S, Sarah)( 114, ), Watson, (Watson, M, Mark)( 114, ), Bengio, (Bengio, Rm, Raquel Maria)( 115, ), Larripa, (Larripa, I, Irene)( 115, ), Pavlovsky, (Pavlovsky, C, Carolina)( 116, ), Moiraghi, (Moiraghi, B, Beatriz)( 117, ), Pinna, De, CAR (Requiao de Pinna, Cristiane Almeida)( 118, ), Magalhaes, GHR (Romani Magalhaes, Gustavo Henrique)( 119, ), Pagnano, (Pagnano, K, Katia)( 120, ), Funke, (Funke, V, Vaneuza)( 121, ), Tavares, (Tavares, Rs, Renato Sampaio)( 122, ), Prado, (Prado, A, Adriana)( 123, ), Azevedo, (Azevedo, Aa, Alita Andrade)( 124, ), Fogliatto, (Fogliatto, L, Laura)( 125, ), Bonecker, (Bonecker, S, Simone)( 126, ), Centrone, (Centrone, R, Renato)( 127, ), Moellman, (Moellman, A, Artur)( 128, ), Conchon, (Conchon, M, Monika)( 130, ), Centurion, (Centurion, Me, Maria Elida)( 131, ), (Prado, Ai, Ana-Ines)( 132, ), Lopez, (Lopez, Jl, ( 133 ), J. L., Petruzziello, (Petruzziello, F, Fara)( 75, ), Bendit, (Bendit, I, Israel), Baccarani M., Castagnetti F., Gugliotta G., Rosti G., Soverini S., Albeer A., and Pfirrmann M.

Subjects
Male, 0301 basic medicine, Cancer Research, bcr-abl, Fusion Proteins, bcr-abl, Global Health, 0302 clinical medicine, hemic and lymphatic diseases, 80 and over, Odds Ratio, Prevalence, Age Factor, Chronic, Young adult, Child, MOLECULAR RESPONSE, Leukemic, Aged, 80 and over, Leukemia, Hematology, Gene Expression Regulation, Leukemic, CHRONIC MYELOGENOUS LEUKEMIA, Age Factors, Myeloid leukemia, Middle Aged, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Female, Life Sciences & Biomedicine, Human, Adult, Transcriptional Activation, medicine.medical_specialty, Adolescent, Immunology, IMATINIB MESYLATE, DENDRITIC CELLS, CML PATIENTS, Young Adult, 03 medical and health sciences, Myelogenous, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Internal medicine, medicine, Humans, 1112 Oncology and Carcinogenesis, BCR/ABL TRANSCRIPT, Preschool, CYTOGENETIC RESPONSE, Aged, Science & Technology, CHRONIC-PHASE, business.industry, Infant, Newborn, Fusion Proteins, ABL FUSION PROTEINS, P190 BCR-ABL, Infant, 1103 Clinical Sciences, Odds ratio, Newborn, medicine.disease, International BCR-ABL Study Group, Settore MED/15 - MALATTIE DEL SANGUE, 030104 developmental biology, Imatinib mesylate, Gene Expression Regulation, BCR-ABL Positive, business, Chronic myelogenous leukemia
Abstract

There are different BCR-ABL1 fusion genes that are translated into proteins that are different from each other, yet all leukemogenic, causing chronic myeloid leukemia (CML) or acute lymphoblastic leukemia. Their frequency has never been systematically investigated. In a series of 45503 newly diagnosed CML patients reported from 45 countries, it was found that the proportion of e13a2 (also known as b2a2) and of e14a2 (also known as b3a2), including the cases co-expressing e14a2 and e13a2, was 37.9% and 62.1%, respectively. The proportion of these two transcripts was correlated with gender, e13a2 being more frequent in males (39.2%) than in females (36.2%), was correlated with age, decreasing from 39.6% in children and adolescents down to 31.6% in patients ≥ 80 years old, and was not constant worldwide. Other, rare transcripts were reported in 666/34561 patients (1.93%). The proportion of rare transcripts was associatedwith gender (2.27% in females and 1.69% in males) and with age (from 1.79% in children and adolescents up to 3.84% in patients ≥ 80 years old). These data show that the differences in proportion are not by chance. This is important, as the transcript type is a variable that is suspected to be of prognostic importance for response to treatment, outcome of treatment, and rate of treatment-free remission.

Published
2019

11. EVENTI ACUTI NEI PAZIENTI CON MALATTIA DREPANOCITICADURANTE LA FASE I DEL LOCKDOWN: RISULTATI DELLA SURVEY NAZIONALE NEI CENTRI AIEOP

Author

Munaretto, V, Voi, V, Palazzi, G, Notarangelo, L, Corti, P, Baretta, V, Casale, M, Barone, A, Cuzzubbo, D, Samperi, P, Tripodi, Si, Giona, F, Miano, M, Nocerino, D, Del Vecchio, G, Sau, A, Filippini, B, Casciana, Ml, Arcioni, F, Migliavacca, M, Saracco, P, Gorio, C, Cesaro, S, Perrotta, S, Zecca, M, Giordano, P, Fasoli, S, Russo, G, Sainati, L, and Colombatti, R.

Published
2020

13. A case of motor neuron involvement in Gaucher disease

Author

Pozzilli, V., primary, Giona, F., additional, Ceccanti, M., additional, Cambieri, C., additional, Frasca, V., additional, Onesti, E., additional, Libonati, L., additional, Di Bari, S., additional, Fiorini, I., additional, Cardarelli, L., additional, Santopietro, M., additional, and Inghilleri, M., additional

Published
2019
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14. Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP)

Author

Ladogana S., Maruzzi M., Samperi P., Condorelli A., Casale M., Giordano P., Notarangelo L. D., Farruggia P., Giona F., Nocerino A., Fasoli S., Casciana M. L., Miano M., Tucci F., Casini T., Saracco P., Barcellini W., Zanella A., Perrotta S., Russo G., Baronci C., Casadei A. M., Cazzaniga G., Coluzzi S., Ciliberti A., Del Vecchio G. C., Facchini E., Girelli G., Lazzareschi I., Masera N., Perseghin P., Peruccio D., Petrone A., Sau A., Schiro R., Tumino M., Vasta I., Verzegnassi F., Ladogana, Saverio, Maruzzi, Matteo, Samperi, Piera, Condorelli, Annalisa, Casale, Maddalena, Giordano, Paola, Notarangelo, Lucia D., Farruggia, Piero, Giona, Fiorina, Nocerino, Agostino, Fasoli, Silvia, Casciana, Maria L., Miano, Maurizio, Tucci, Fabio, Casini, Tommaso, Saracco, Paola, Barcellini, Wilma, Zanella, Alberto, Perrotta, Silverio, Russo, Giovanna, Baronci, Carlo, Casadei, Anna Maria, Cazzaniga, Giovanni, Coluzzi, Serelina, Corti, Paola, Del Vecchio, Giovanni C., Facchini, Elena, Girelli, Gabriella, Lazzareschi, Ilaria, Masera, Nicoletta, Perseghin, Paolo, Peruccio, Daniela, Petrone, Angelamaria, Sau, Antonella, Schirò, Raffaella, Tumino, Manuela, Vasta, Isabella, Verzegnassi, Federico, Ladogana, S, Maruzzi, M, Samperi, P, Condorelli, A, Casale, M, Giordano, P, Notarangelo, L, Farruggia, P, Giona, F, Nocerino, A, Fasoli, S, Casciana, M, Miano, M, Tucci, F, Casini, T, Saracco, P, Barcellini, W, Zanella, A, Perrotta, S, Russo, G, Baronci, C, Casadei, A, Cazzaniga, G, Coluzzi, S, Ciliberti, A, Del Vecchio, G, Facchini, E, Girelli, G, Lazzareschi, I, Masera, N, Perseghin, P, Peruccio, D, Petrone, A, Sau, A, Schiro, R, Tumino, M, Vasta, I, and Verzegnassi, F

Subjects
Male, autoimmune haemolytic anaemia, child, therapy, rituximab, mycophenolate mofetil, splenectomy, therapy, Erythrocytes, Adolescent, Incidence, mycophenolate mofetil, Infant, Hematology, Guideline, splenectomy, rituximab, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Humans, Immunology and Allergy, autoimmune haemolytic anaemia, Female, Anemia, Hemolytic, Autoimmune, Child, Autoantibodies
Published
2018

18. UTILIZZO DELL’ELTROMBOPAG NELLA 'REAL LIFE' DEI BAMBINI AFFETTI DA TROMBOCITOPENIA IMMUNE CRONICA (ITP): ESPERIENZA MULTICENTRICA DELLA ASSOCIAZIONE ITALIANA DI EMATOLOGIA ED ONCOLOGIA PEDIATRICA (AIEOP)

Author

Palladino1, V., Lassandro1, G., Del Vecchio1, G. C., Cesaro2, S., Fontanili3, I., Fotzi4, I., Gabelli5, M., Giona, F., Ladogana, S., Marzollo, A., Miano, M., Nardi, M., Notarangelo, L. D., Pession, A., Ruggiero, A., Russo, G., Saracco, P., Spinelli, M., Tolva, A., Tornesello, A., Zecca, M., and Giordano, P.

Subjects
PEDIATRICO, ELTROMBOPAG, TROMBOCITOPENIA
Published
2019

19. Retrospective And Prospective Study Of Childhood Autoimmune Hemolytic Anemia. A Preliminary Report From The Red Cell Working Group Of The Paediatric Hemato-Oncology Italian Associations (Aieop)

Author

Ladogana, S., Colombatti, R., Perrotta, S., Maggio, A., Maruzzi, M., Ciliberti, A., Samperi, P., Casale, M., Giordano, P., Del Vecchio, G. C., Perillo, T., Boscarol, G., Notarangelo, L. D., Casini, T., Miano, M., Fasoli, S., Corti, P., Guarina, A., Arcioni, F., Sau, A., Giona, F., Palumbo, G., Saracco, P., Petrone, A., Verzegnassi, F., Piccolo, C., and Russo, S. Cesaro and G.

Published
2019

21. Risultati preliminari degli Studi Prospettico e Retrospettivo (OEP 2015-01 e 2015-02) sull’Anemia Emolitica Autoimmune (AEA) del bambino di nuova diagnosi

Author

Ladogana, S., Colombatti, R., Perrotta, S., Maggio, A., Maruzzi, M., Ciliberti, A., Samperi, P., Casale, M., Giordano, P., Del Vecchio, G. C., Martire, B., Boscarol, G., Notarangelo, L. D., Casini, T., Miano, M., Fasoli, S., Corti, P., Masera, N., Guarina, A., Arcioni, F., Sau, A., Giona, F., Palumbo, G., Saracco, P., Petrone, A., Verzegnassi, F., Piccolo, C., Cesaro, S., and Russo, G.

Subjects
Anemia emolitica autoimmune, bambino, strategie terapeutiche
Published
2019

29. TALASSO-DREPANOCITOSI DA MUTAZIONI BETA+: REALMENTE UN FENOTIPO 'MILD'?

Author

Agostini, A., Notarangelo, L. D., Gorio, C., Folsi, V., Casale, M., Perrotta, S., Samperi, P., Barone, A., Arcioni, F., Pegoraro, A., Burnelli, R., Nardi, M., Giona, F., Filippini, B., Giordano, P., Del-Vecchio, G. C., Casini, T., Masera, N., Colombatti, R., Sainati, L., Porta, F., and Russo, G.

Published
2018

31. Mast Cell Disorders, Melanoma and Pancreatic Carcinoma: From a Clinical Observation to a Brief Review of the Literature

Author

Giovanni Paolino, Belmonte, M., Trasarti, S., Santopietro, M., Bizzoni, L., Riminucci, M., Cardarelli, L., Iannella, E., Albanesi, M., Moliterni, E., Didona, D., Calvieri, S., Foà, R., and Giona, F.

Subjects
Male, Pancreatic Neoplasms, Skin Neoplasms, pancreatic carcinoma, Mastocytosis, Melanoma, Tryptases, melanoma, mastocytosis, Humans, Adenocarcinoma, Aged
Abstract

Mastocytosis can be associated with other clonal or non-clonal hematologic diseases as well as a variety of non-hematologic malignancies. A 75-year-old Caucasian male patient was referred to us with a 5-month history of neutrophilic leukocytosis and mild splenomegaly. He had developed a cutaneous melanoma sixteen years ago. According to the clinical and pathological features, a final diagnosis of systemic mastocytosis was established. The patient started treatment with interferon-α at a dose of 3 MIU/day, combined with low doses of prednisone. We observed a rapid disappearance of symptoms. Unfortunately, after 3 months a diagnosis of pancreatic adenocarcinoma was established. A review of the literature suggests that mastocytes could have a pivotal role in several malignancies. Different chemokines, mitogenic factors, chemical mediators of inflammation, and specific gene mutations could explain the association between mastocytosis and other hematologic and non-hematologic disorders.

Published
2017

37. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm

Author

Di Rocco, M., Andria, G., Deodato, F., Giona, F., Micalizzi, C., and Pession, Andrea

Subjects
Algorithm, Early Diagnosis, Gaucher Disease, Bone Marrow, Biopsy, Splenomegaly, Gaucher disease, Pediatric age, Algorithms, Child, Humans
Abstract

Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids in various organs. Although the signs and symptoms of GD emerge in childhood in the majority of patients, the disease often remains unrecognized for many years with delay of benefits of therapy or development of irreversible complications. Based on published data and data from the International Collaborative Gaucher Group Registry, an algorithm has been drafted for early diagnosis of GD in pediatric patients. It will help hematologists in promoting a timely diagnosis and early access to therapy for pediatric patients with GD.

Published
2014

41. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: A multicentric, real life study

Author

Patrizia Noris, Klersy C, Gresele P, Giona F, Giordano P, Minuz P, Loffredo G, Pecci A, Melazzini F, Civaschi E, Mezzasoma A, Piedimonte M, Semeraro F, Veneri D, Menna F, Ciardelli L, Cl, Balduini, and Italian Gruppo di Studio delle Piastrine

Subjects
Adult, Blood Platelets, Male, medicine.medical_specialty, Immune thrombocytopenia, Inherited thrombocytopenias, Platelet diameter, Platelet size, Platelet volume, Adolescent, Diagnostic accuracy, Gastroenterology, Sensitivity and Specificity, Diagnosis, Differential, Young Adult, Reference Values, hemic and lymphatic diseases, Internal medicine, Diagnosis, medicine, Humans, Platelet, Mean platelet volume, Aged, Female, Middle Aged, Platelet Count, Purpura, Thrombocytopenic, Idiopathic, Thrombocytopenia, Cell Size, Purpura, business.industry, Platelets, Haemostasis and Thrombosis, Hematology, Idiopathic, Peripheral blood, Thrombocytopenic, Immunology, Differential, Differential diagnosis, business, Life study
Abstract

The most frequent forms of inherited thrombocytopenia (IT) are characterized by platelet size abnormalities and it has been suggested that this parameter is useful for their differentiation from immune thrombocytopenia (ITP). Recently, a monocentric study identified cut-off values for mean platelet volume (MPV) and mean platelet diameter (MPD) with good diagnostic accuracy in this respect. To validate these cut-off values in a different and larger case series of patients, we enrolled 130 subjects with ITP and 113 with IT in six different centres. The platelet count and MPV was each measured by the instrument routinely used in each institution. In some centres, platelet count was also measured by optical microscopy. MPD was evaluated centrally by image analysis of peripheral blood films. The previously identified cut-off value for MPV had 91% specificity in distinguishing ITP from inherited macrothrombocytopenias (mono and biallelic Bernard-Soulier, MYH9-related disease), while its sensitivity was greatly variable depending on the instrument used. With an appropriate instrument, specificity was 83%. The diagnostic accuracy of MPD was lower than that obtained with MPV. We concluded that MPV is a useful parameter for differentiating ITP from IT provided that it is measured by appropriate cell counters.

Published
2013

43. A single high dose of idarubicin combined with high-dose ARA-C for treatment of first relapse in childhood 'high-risk' acute lymphoblastic leukaemia: a study of the AIEOP group

Author

TESTI AM, DEL GIUDICE I, ARCESE W, MOLETI ML, GIONA F, BASSO G, BIONDI A, CONTER V, MESSINA C, RONDELLI R, MICOZZI A, MICALIZZI C, BARISONE E, LOCATELLI F, DINI G, ARICO M, COMIS M, LADOGANA S, LIPPI A, MURA R, PINTA MF, SANTORO N, VALSECCHI MG, MASERA G, MANDELLI F, AIEOP COOPERATIVE GROUP, CASALE, Fiorina, Testi, Am, DEL GIUDICE, I, Arcese, W, Moleti, Ml, Giona, F, Basso, G, Biondi, A, Conter, V, Messina, C, Rondelli, R, Micozzi, A, Micalizzi, C, Barisone, E, Locatelli, F, Dini, G, Arico, M, Casale, Fiorina, Comis, M, Ladogana, S, Lippi, A, Mura, R, Pinta, Mf, Santoro, N, Valsecchi, Mg, Masera, G, Mandelli, F, AIEOP COOPERATIVE, Group, Testi, A, Del Giudice, I, Moleti, M, Aricò, M, Casale, F, Pinta, M, and Valsecchi, M

Subjects
Male, Antineoplastic Combined Chemotherapy Protocol, Adolescent, Cytarabine, Hematopoietic Stem Cell Transplantation, Infant, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Disease-Free Survival, Follow-Up Studie, Survival Rate, Recurrence, Child, Preschool, Antineoplastic Combined Chemotherapy Protocols, Humans, Female, Preschool, Child, Idarubicin, Follow-Up Studies, Settore MED/15 - Malattie del Sangue, Human
Abstract

The outcome of children with acute lymphoblastic leukaemia (ALL) and early relapse remains unsatisfactory. In January 1995, the AIEOP (Associazione Italiana di Oncologia ed Ematologia Pediatrica) group opened a trial for children with ALL in first isolated or combined bone marrow relapse defined at high risk according to the length of first remission and the immunophenotype. The treatment plan included the combination of a single high-dose idarubicin and high-dose cytarabine as induction therapy followed by an intensive consolidation and stem cell transplant (SCT). In total, 100 children from 16 Italian centres were enrolled; 80 out of the 99 evaluable patients (81%) achieved second complete remission; eight (8%) died during induction and 11 (11%) failed to respond. A total of 42 out of the 80 responders (52.5%) received a SCT: 19 from an identical sibling, 11 from a matched unrelated donor and 12 from umbilical cord blood cells. The estimated 4-year overall survival and event-free survival were 25% and 21% respectively. Disease-free survival at 4 years was 25.8% for the 80 responders. At 4 years, 39 out of 100 children remain alive, with 27 of them free of leukaemia. This induction therapy has shown antileukaemic efficacy with acceptable toxicity; moreover, all responders proved eligible for intensive consolidation.

Published
2002

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