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5. Gilteritinib with or without venetoclax for relapsed/refractory FLT3‐mutated acute myeloid leukaemia.

Author

Kugler, Eitan, Cohen, Inbar, Amitai, Irina, Ram, Ron, Frisch, Avraham, Nachmias, Boaz, Canaani, Jonathan, Moshe, Yakir, Krayem, Baher, Aumann, Shlomzion, Henig, Israel, Vainstein, Vladimir, Shargian, Liat, Ganzel, Chezi, Yeshurun, Moshe, Levi, Itay, Raanani, Pia, Akria, Luiza, Ofran, Yishai, and Shimony, Shai

Abstract

Summary: Patients with FLT3‐mutated acute myeloid leukaemia (AML) that relapse or are refractory (R/R) to intensive induction have poor outcomes. Gilteritinib has recently become standard‐of‐care for patients with R/R FLT3‐mutated AML. We investigated whether adding venetoclax to gilteritinib (gilt‐ven) improves outcomes as compared with gilteritinib monotherapy. We included patients treated with gilteritinib (n = 19) and gilt‐ven (n = 17) for R/R AML after intensive chemotherapy. Gilteritinib and gilt‐ven groups did not differ in terms of mCRc rates (53% and 65%, p = 0.51) and realization of allogeneic haematopoietic stem‐cell transplantation (HSCT, 47% and 35%, p = 0.5). Overall survival (OS) was comparable between groups, although a trend towards better OS was seen with gilt‐ven (12‐month OS 58.8% [95% CI 39.5%–87.6%]) versus gilteritinib (42.1% [95% CI 24.9%–71.3%] for gilteritinib). Early salvage with gilt‐ven versus any other gilteritinib‐based approach was associated with the best outcome (p = 0.031). Combination therapy was associated with increased haematological toxicity. In summary, gilt‐ven did not improve remissions or HSCT‐realization rates in patients with R/R FLT3‐mutated AML as compared with gilteritinib and was associated with increased haematological toxicity. Although OS did not differ, a trend towards better survival was suggested with gilt‐ven and a survival benefit was shown for gilt‐ven approach when sequenced early for salvage. [ABSTRACT FROM AUTHOR]

Published
2024
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10. P914: VENETOCLAX IN RELAPSE/REFRACTORY AL AMYLOIDOSIS- A MULTICENTER INTERNATIONAL RETROSPECTIVE REAL-WORLD STUDY

Author

Lebel, Eyal, primary, Kastritis, Efstathios, additional, Palladini, Giovanni, additional, Milani, Paolo, additional, Theodorakakou, Foteini, additional, Aumann, Shlomzion, additional, Lavi, Noa, additional, Shargian, Liat, additional, Magen, Hila, additional, Cohen, Yael, additional, Gatt, Moshe, additional, and Vaxman, Iuliana, additional

Published
2023
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11. Venetoclax‐based salvage therapy for adult patients with relapsed/refractory acute lymphoblastic leukemia

Author

Canaani, Jonathan, primary, Frisch, Avraham, additional, Pollyea, Daniel A., additional, Schwartz, Marc, additional, Aumann, Shlomzion, additional, Ganzel, Chezi, additional, Haran, Arnon, additional, Even‐Zohar, Noa Gross, additional, Shaulov, Adir, additional, Vainstein, Vladimir, additional, Moshe, Yakir, additional, Ofran, Yishai, additional, Wolach, Ofir, additional, and Nachmias, Boaz, additional

Published
2023
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12. Utility of Galactomannan Screening for Early Detection of Invasive Aspergillosis in High-Risk Hemato-Oncology Patients.

Author

Sabbah, Rozan, Korem, Maya, Shaulov, Adir, Aumann, Shlomzion, and Nachmias, Boaz

Subjects
MEDICAL screening, ASPERGILLOSIS, HEMATOLOGIC malignancies, EARLY diagnosis, PULMONARY aspergillosis, PATHOLOGICAL laboratories
Abstract

Introduction: Invasive aspergillosis (IA) affects mainly patients with hematological malignancies, and early diagnosis is crucial for timely treatment. Most diagnoses are based on clinical and mycological criteria, mostly galactomannan (GM) test in serum or bronchoalveolar fluid, which is performed in case of clinical suspicion or as routine screening in patients at high risk who are not receiving anti-mold prophylaxis, for early detection of IA. The aim of this study was to assess in a real-world setting the efficacy of biweekly serum GM screening for the early detection of IA. Methods: A retrospective cohort that included 80 adult patients treated at the Hematology Department, Hadassah Medical Center, 2016–2020, with a diagnosis of IA. Clinical and laboratory data were collected from patients' medical files and the rate of GM-driven, GM-associated, and non-GM-associated IA was calculated. Results: There were 58 patients with IA. The rate of GM-driven diagnosis was 6.9%, GM-associated diagnosis was 43.1%, and non-GM-associated diagnosis was 56.9%. The GM test as a screening tool had led to IA diagnosis in only 0.2% of screened serums with a number needed to screen in order to find 1 patient with IA of 490. Conclusion: Clinical suspicion outweighs GM screening as a tool for early diagnosis of IA. Nevertheless, GM has an important role as a diagnostic tool for IA. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Desensitization protocol to lenalidomide: An effective and safe treatment modality for delayed hypersensitivity‐induced rash in patients with multiple myeloma

Author

Shamriz, Oded, primary, Parnasa, Elchanan, additional, Rubin, Limor, additional, Talmon, Aviv, additional, Ribak, Yaarit, additional, Lebel, Eyal, additional, Vainstein, Vladimir, additional, Aumann, Shlomzion, additional, Saban, Revital, additional, Gatt, Moshe E., additional, and Tal, Yuval, additional

Published
2023
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14. Obinutuzumab Versus Rituximab Based First-Line Chemoimmunotherapy for Follicular Lymphoma - a Real-World Multicenter Retrospective Cohort Study

Author

Berger, Tamar, primary, Shochat, Tzippy, additional, Aumann, Shlomzion, additional, Nachmias, Boaz, additional, Goldschmidt, Neta, additional, Horesh, Nurit, additional, Harel, Reut, additional, Aviv, Ariel, additional, Shmerts, Ella, additional, Abadi, Uri, additional, Raanani, Pia, additional, Gafter-Gvili, Anat, additional, and Gurion, Ronit, additional

Published
2022
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18. Risk factors and outcomes of COVID‐19 in adult patients with hematological malignancies: A single‐center study showing lower than expected rates of hospitalization and mortality.

Author

Aumann, Shlomzion, Tsubary, Uria, Nachmias, Boaz, Ben Yehuda, Dina, Lavie, David, Goldschmidt, Neta, Vainstein, Vladimir, Libster, Diana, Saban, Revital, Shaulov, Adir, Israel, Sarah, Avni, Batia, Grisariu, Sigal, Bdolah‐Amram, Tali, Gatt, Moshe, and Zimran, Eran

Subjects
*HEMATOLOGIC malignancies, *COVID-19, *DEATH rate, *MONOCLONAL antibodies, *HOSPITAL patients
Abstract

Background: Studies addressing coronavirus disease 2019 (COVID‐19) in patients with hematological malignancies have reported mortality rates of up to 40%; however, included predominantly hospitalized patients. Methods: During the first year of the pandemic, we followed adult patients with hematological malignancies treated at a tertiary center in Jerusalem, Israel, who contracted COVID‐19, with the aim of studying risk factors for adverse COVID‐19‐related outcomes. We used remote communication to track patients managed at home‐isolation, and patient questioning to assess the source of COVID‐19 infection, community versus nosocomial. Results: Our series included 183 patients, median age was 62.5 years, 72% had at least one comorbidity and 39% were receiving active antineoplastic treatment. Hospitalization, critical COVID‐19, and mortality rates were 32%, 12.6%, and 9.8%, respectively, remarkably lower than previously reported. Age, multiple comorbidities, and active antineoplastic treatment were significantly associated with hospitalization due to COVID‐19. Treatment with monoclonal antibodies was strongly associated with both hospitalization and critical COVID‐19. In older (≥60) patients not receiving active antineoplastic treatment, mortality, and severe COVID‐19 rates were comparable to those of the general Israeli population. We did not detect patients that contracted COVID‐19 within the Hematology Division. Conclusion: These findings are relevant for the future management of patients with hematological malignancies in COVID‐19‐affected regions. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Venetoclax in Relapse/Refractory AL Amyloidosis—A Multicenter International Retrospective Real-World Study.

Author

Lebel, Eyal, Kastritis, Efstathios, Palladini, Giovanni, Milani, Paolo, Theodorakakou, Foteini, Aumann, Shlomzion, Lavi, Noa, Shargian, Liat, Magen, Hila, Cohen, Yael, Gatt, Moshe E., and Vaxman, Iuliana

Subjects
THERAPEUTIC use of antineoplastic agents, RESEARCH, AMYLOIDOSIS, INTERNATIONAL relations, CONFIDENCE intervals, CHRONIC diseases, CANCER relapse, RETROSPECTIVE studies, TREATMENT effectiveness, TUMOR lysis syndrome, DISEASE prevalence, DESCRIPTIVE statistics, LYMPHOPROLIFERATIVE disorders, MEDICAL prescriptions, PROGRESSION-free survival, LONGITUDINAL method, DRUG resistance in cancer cells, OVERALL survival
Abstract

Simple Summary: Light-chain amyloidosis is a rare disease, and treatment for relapsed light-chain amyloidosis patients is an unmet need. Venetoclax is an oral medication that has proven great efficacy in many hematological cancers, including multiple myeloma. Venetoclax is considered a promising agent for the treatment of relapsed light-chain amyloidosis. We aimed to report the outcomes of therapy in 26 relapsed light-chain amyloidosis patients treated with venetoclax. We found a very high response rate (88%), and most responses were deep and prolonged. Treatment was effective even when doses were reduced. Venetoclax treatment was safe, and one patient died due to infection. These promising results require confirmation in a randomized trial. Therapeutic options in relapsed refractory (R/R) light-chain (AL) amyloidosis patients are limited. Given the encouraging results in t(11;14) multiple myeloma and the high prevalence of t(11;14) in AL amyloidosis, venetoclax is an attractive treatment option in this setting. We report here the results of a multi-center retrospective study on 26 R/R AL amyloidosis patients treated off-label with venetoclax. The median lines of therapy prior to venetoclax was 3.5 (range 1–7), and 88% of our cohort had t (11;14). Twenty-two patients (85%) were previously treated with daratumumab. The overall hematologic response rate was 88%, 35% achieved a CR, and 35% achieved VGPR. The median event-free survival was 25 months (m) (95% CI 9.7 m-not reached), and the median overall survival was 33 m (95% CI 25.9–39.2 m). Most of the patients in this cohort are in ongoing deep responses and continuing venetoclax therapy. The treatment was relatively safe. One patient died due to infection, and there were two grade 3 infections in our cohort. Tumor lysis syndrome (TLS) was not seen in any patient. Dose reductions were frequent but did not affect the efficacy. These promising results require confirmation in a randomized controlled trial. [ABSTRACT FROM AUTHOR]

Published
2023
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22. COVID-19 Among Patients with Hematological Malignancies: Experience from a Tertiary Center Showing Lower Than Expected Mortality and Establishing the Safety of in-Hospital Patient Care during the Pandemic

Author

Aumann, Shlomzion, primary, Tsubary, Uria, additional, Israel, Sarah, additional, Ben Yehuda, Dina, additional, Lavie, David, additional, Goldschmidt, Neta, additional, Vainstein, Vladimir, additional, Libster, Diana, additional, Saban, Revital, additional, Shaulov, Adir, additional, Avni, Batia, additional, Nachmias, Boaz, additional, Grisariu, Sigal, additional, Paltiel, Ora, additional, Gatt, Moshe, additional, and Zimran, Eran, additional

Published
2021
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23. COVID-19 among patients with hematological malignancies: a national Israeli retrospective analysis with special emphasis on treatment and outcome

Author

Levy, Ilana, primary, Lavi, Avital, additional, Zimran, Eran, additional, Grisariu, Sigal, additional, Aumann, Shlomzion, additional, Itchaki, Gilad, additional, Berger, Tamar, additional, Raanani, Pia, additional, Harel, Reut, additional, Aviv, Ariel, additional, Lavi, Noa, additional, Zuckerman, Tsila, additional, Shvidel, Lev, additional, Jarchowsky, Osnat, additional, Ellis, Martin, additional, Herzog Tzarfati, Katrin, additional, Koren-Michowitz, Maya, additional, Sherf, Yehonatan, additional, Levi, Itai, additional, Sofer, Orit, additional, Shpilberg, Ofer, additional, Dally, Nagib, additional, Suriu, Celia, additional, Braester, Andrei, additional, Ben Barouch, Sharon, additional, Leiba, Merav, additional, Goldstein, Daniela, additional, Sarid, Nadav, additional, Yeganeh, Shay, additional, Halloun, Jabour, additional, Mittelman, Moshe, additional, and Tadmor, Tamar, additional

Published
2021
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25. LMO2 Confers Synthetic Lethality to PARP Inhibition in DLBCL

Author

National Cancer Institute (US), Miami University, Dwoskin Family Foundation, National Institute of General Medical Sciences (US), Parvin, Salma, Ramírez-Labrada, Ariel, Aumann, Shlomzion, Lu, XiaoQing, Weich, Natalia, Santiago, Gabriel, Cortizas, Elena M., Sharabi, Eden, Zhang, Yu, Sánchez García, Isidro, Gentles, Andrew J., Roberts, Evan, Bilbao-Cortes, Daniel, Vega, Francisco, Chapman, Jennifer R., Verdun, Ramiro E., Lossos, Izidore S., National Cancer Institute (US), Miami University, Dwoskin Family Foundation, National Institute of General Medical Sciences (US), Parvin, Salma, Ramírez-Labrada, Ariel, Aumann, Shlomzion, Lu, XiaoQing, Weich, Natalia, Santiago, Gabriel, Cortizas, Elena M., Sharabi, Eden, Zhang, Yu, Sánchez García, Isidro, Gentles, Andrew J., Roberts, Evan, Bilbao-Cortes, Daniel, Vega, Francisco, Chapman, Jennifer R., Verdun, Ramiro E., and Lossos, Izidore S.

Abstract

Deficiency in DNA double-strand break (DSB) repair mechanisms has been widely exploited for the treatment of different malignances, including homologous recombination (HR)-deficient breast and ovarian cancers. Here we demonstrate that diffuse large B cell lymphomas (DLBCLs) expressing LMO2 protein are functionally deficient in HR-mediated DSB repair. Mechanistically, LMO2 inhibits BRCA1 recruitment to DSBs by interacting with 53BP1 during repair. Similar to BRCA1-deficient cells, LMO2-positive DLBCLs and T cell acute lymphoblastic leukemia (T-ALL) cells exhibit a high sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. Furthermore, chemotherapy and PARP inhibitors synergize to inhibit the growth of LMO2-positive tumors. Together, our results reveal that LMO2 expression predicts HR deficiency and the potential therapeutic use of PARP inhibitors in DLBCL and T-ALL.

Published
2019

27. LMO2 Confers Synthetic Lethality to PARP Inhibition in DLBCL

Author

Parvin, Salma, primary, Ramirez-Labrada, Ariel, additional, Aumann, Shlomzion, additional, Lu, XiaoQing, additional, Weich, Natalia, additional, Santiago, Gabriel, additional, Cortizas, Elena M., additional, Sharabi, Eden, additional, Zhang, Yu, additional, Sanchez-Garcia, Isidro, additional, Gentles, Andrew J., additional, Roberts, Evan, additional, Bilbao-Cortes, Daniel, additional, Vega, Francisco, additional, Chapman, Jennifer R., additional, Verdun, Ramiro E., additional, and Lossos, Izidore S., additional

Published
2019
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28. LMO2 Facilitates Synthetic Lethality after PARP Inhibition (PARPi) in Diffuse Large B-Cell Lymphoma (DLBCL)

Author

Izidore S. Lossos, Ariel Ramirez Labrada, Aumann Shlomzion, Francisco Vega, Ramiro E. Verdun, Salma Parvin, Jennifer R. Chapman-Fredricks, Isidro Sánchez-García, Sharabi Eden, Zhang Yu, Gabriel E. Santiago, and Cortizas M Elena

Subjects
LMO2, DNA damage, DNA repair, Immunology, Germinal center, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Olaparib, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Apoptosis, Cell culture, hemic and lymphatic diseases, 030220 oncology & carcinogenesis, Cancer research, medicine, Diffuse large B-cell lymphoma, 030215 immunology
Abstract

Novel therapies for DLBCL are needed to improve patients' outcomes. LIM domain only 2 (LMO2) protein is ubiquitously expressed and plays important roles in endothelial and hematopoietic cell development. LMO2 protein expression is upregulated in germinal center B (GCB) cells, the cell of origin of DLBCL. 73% of GCB and 45% of ABC DLBCLs express LMO2 protein at levels of reactive GCB cells. Although the function of LMO2 in B cells and DLBCL is unknown, expression of LMO2 serves as one of the best prognostic markers of longer survival following R-CHOP therapy. Additionally, LMO2 expression in DLBCL cells results in genomic instability. These observations suggest that LMO2 may decrease DNA repair efficiency. Indeed, here we demonstrate that primary DLBCL tumors and cell lines expressing high levels of LMO2 protein (LMO2HIGH) are defective in DNA double-strand break (DSB) repair via the homologous recombination (HR) pathway. We found that LMO2HIGH DLBCL cells and LMO2LOW DLBCL cells expressing a GFP-LMO2 fusion protein via a doxycycline-inducible system have a defective accumulation of the HR proteins BRCA1 and RAD51 to damaged chromosomes as visualized by immunofluorescence (IF) and Western blot assays. Furthermore, LMO2HIGH DLBCL exposed to ionizing radiation showed decreased levels of phosphorylated (S4 and S8) replication protein A (RPA32 subunit), a marker of DSB end-resection activity and an essential step for HR-dependent DSB repair. Consequently, LMO2HIGH DLBCL showed decreased HR activity as assessed via a DR-GFP reporter system and scoring the frequency of HR-dependent sister chromatid exchanges. Also, in LMO2HIGH vs LMO2LOW DLBCLs, we observed higher levels of ionizing radiation-induced foci (IRIF) for 53BP1 and RIF1 - non-homologous end-joining (NHEJ) core factors playing a critical role in defining DSB repair pathway choice. Similarly, we found a higher accumulation of 53BP1 and RIF1 chromatin-enriched fraction after DNA damage in LMO2HIGH than LMO2LOW DLBCLs. Furthermore, we show that LMO2 forms a complex with 53BP1 but not BRCA1 after DNA damage, as demonstrated by Co-IP, GST pull-down assays and spatial co-localization in IRIFs. This suggests that LMO2 functionally interacts with 53BP1 during DSB repair. Indeed, knockdown of 53BP1 in LMO2HIGH cells increased the levels of BRCA1 and RAD51 IRIF to values similar to LMO2LOW cells without affecting LMO2 levels, revealing that LMO2 depends on 53BP1 to inhibit HR activity. Since LMO2HIGH DLBCL cells exhibit a defective HR-pathway, we next explored the therapeutic potential of PARPi in DLBCL. We found that in LMO2HIGH but not LMO2LOW DLBCL cell lines the PARPi olaparib induced a significant decrease in cell proliferation and colony formation and an increase in cell death via apoptosis. The sensitivity to olaparib directly correlated with LMO2 protein levels. The proliferation defect in LMO2HIGH DLBCL cells was due to the increased DNA damage caused by exposure to PARPi, as observed by an increase in γH2AX foci. Induction of LMO2 expression in LMO2LOW DLBCL cell lines led to sensitivity to olaparib, demonstrating that the proliferation defect induced by olaparib was dependent on LMO2 expression. Silencing of LMO2 via shRNA or CRISP/Cas9 in LMO2HIGH cell lines rescued the proliferation defect induced by olaparib. The proliferation deficiency induced by olaparib was synergistic with doxorubicin in LMO2HIGH but not in LMO2LOW DLBCL cell lines and untreated patient-derived primary DLBCL tumors. We also examined the in vivo efficacy of olaparib in DLBCL mice models. Olaparib treatment prolonged survival of mice harboring LMO2HIGH but not LMO2LOW DLBCL xenograft tumors. Olaparib in combination with RCHOP significantly prolonged survival of mice harboring LMO2HIGH DLBCL tumors compared to cohorts treated with either olaparib or RCHOP alone. Further, analysis of tumors excised from OCI-LY1 bearing animals treated with olaparib for 3 days revealed increased cell death and a higher sensitivity to PARPi in OCI-LY1 LMO2 cells compared to the OCI-LY1 LMO2 negative-GFP control cells, indicating in vivo survival advantage for LMO2LOW cells upon olaparib treatment. In summary, high expression of LMO2 results in HR-dysfunction phenocopying the BRCA1/2 mutations observed in breast and ovarian tumors. In LMO2HIGH DLBCL, PARPi-induced killing is synergistic with doxorubicin, thus providing a clear path for therapeutic development of PARPi in DLBCL. Figure. Figure. Disclosures Lossos: Affimed: Research Funding.

Published
2018

29. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease

Author

Emile, Jean-François, Diamond, Eli L., Hélias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frédéric, Hyman, David M., Kim, Eunhee, Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Leroy, Karen, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Philippe, Donadieu, Jean, Taly, Valérie, Amoura, Zahir, Abdel-Wahab, Omar, and Haroche, Julien

Published
2014
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30. The Utility of a Coagulation Laboratory Profile in Addition to Clinical Risk Factors for Thrombosis Risk Evaluation in Patients with Myeloproliferative Neoplasms: A Pilot Study

Author

Shapira, Inbal, Shai, Ela, Kalish, Yossef, Tsubary, Uria, Aumann, Shlomzion, Arad, Ariela, Roth Jelinek, Batia, Buchman, Noa, Gatt, Moshe E, and Zimran, Eran

Abstract

Background:Patients (pts) with myeloproliferative neoplasms (MPN) have a significantly increased risk of arterial and venous thrombotic events (TEs), while some pts may paradoxically suffer from bleeding manifestations. Thrombosis risk evaluation in polycythemia vera (PV) and essential thrombocythemia (ET) has important implications for patient management, however, the currently used risk stratification models are extremely limited.

Published
2023
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31. Efficacy and Safety of Glofitamab in Patients with R/R DLBCL in Real Life Setting - a Retrospective Study

Author

Gurion, Ronit, Guz, Dmitri, Kedmi, Meirav, Perry, Chava, Avivi Mazza, Irit, Horowitz, Netanel A., Abadi, Uri, Gafter-Gvili, Anat, Raanani, Pia, Goldschmidt, Neta, Nachmias, Boaz, and Aumann, Shlomzion

Abstract

Introduction- Glofitamab is a CD20-directed CD3 T-cell engager that has recently been approved by the FDA for relapsed and refractory diffuse large B cell lymphoma (R/R DLBCL). The approval was based on a pivotal phase II study including 154 patients with a median of 3 lines of treatment (a third post chimeric antigen receptor T (CAR-T) cell therapy) demonstrating an overall response rate (ORR) and complete response (CR) rate of 52% and 39%, respectively 1. However real-life data is still lacking. The present study was aimed to determine the efficacy and safety of glofitamab in real-life settings.

Published
2023
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32. SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition

Author

Kim, Eunhee, primary, Ilagan, Janine O., additional, Liang, Yang, additional, Daubner, Gerrit M., additional, Lee, Stanley C.-W., additional, Ramakrishnan, Aravind, additional, Li, Yue, additional, Chung, Young Rock, additional, Micol, Jean-Baptiste, additional, Murphy, Michele E., additional, Cho, Hana, additional, Kim, Min-Kyung, additional, Zebari, Ahmad S., additional, Aumann, Shlomzion, additional, Park, Christopher Y., additional, Buonamici, Silvia, additional, Smith, Peter G., additional, Deeg, H. Joachim, additional, Lobry, Camille, additional, Aifantis, Iannis, additional, Modis, Yorgo, additional, Allain, Frederic H.-T., additional, Halene, Stephanie, additional, Bradley, Robert K., additional, and Abdel-Wahab, Omar, additional

Published
2015
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33. Genomic Analysis of Serial Samples from CLL Patients Identifies Clonal Events Associated with Disease Progression

Author

Gardner, Jeffrey R, primary, Nahas, Michelle, additional, He, Jie, additional, Aumann, Shlomzion, additional, Gonen, Mithat, additional, Patel, Minal, additional, Knapp, Kristina M., additional, Palomba, Maria Lia, additional, Yelensky, Roman, additional, Donahue, Amy L, additional, Otto, Geoff, additional, Arcila, Maria, additional, Lamanna, Nicole, additional, Frattini, Mark G., additional, Dogan, Ahmet, additional, Park, Jae H, additional, Lipson, Doron, additional, Tallman, Martin S., additional, Levine, Ross L., additional, Stephens, Philip J., additional, van den Brink, Marcel R. M., additional, Heaney, Mark L, additional, Miller, Vincent A., additional, Zelenetz, Andrew D., additional, and Abdel-Wahab, Omar, additional

Published
2014
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35. Recurrent RASand PIK3CAmutations in Erdheim-Chester disease

Author

Emile, Jean-François, Diamond, Eli L., Hélias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frédéric, Hyman, David M., Kim, Eunhee, Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Leroy, Karen, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Philippe, Donadieu, Jean, Taly, Valérie, Amoura, Zahir, Abdel-Wahab, Omar, and Haroche, Julien

Abstract

Erdheim-Chester disease (ECD) is a rare histiocytic disorder that is challenging to diagnose and treat. We performed molecular analysis of BRAFin the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1mutational analysis in BRAFwild-type patients. Forty-six of 80 (57.5%) of patients were BRAFV600E-mutant. NRASmutations were detected in 3 of 17 ECD BRAFV600E wild-type patients. PIK3CAmutations (p.E542K, p.E545K, p.A1046T, and p.H1047R) were detected in 7 of 55 patients, 4 of whom also had BRAFmutations. Mutant NRASwas present in peripheral blood CD14+cells, but not lymphoid cells, from an NRASQ61R mutant patient. Our results underscore the central role of RAS-RAF-MEK-ERK activation in ECD and identify an important role of activation of RAS-PI3K-AKT signaling in ECD. These results provide a rationale for targeting mutant RAS or PI3K/AKT/mTOR signaling in the subset of ECD patients with NRASor PIK3CAmutations.

Published
2014
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36. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease and histiocytic sarcoma

Author

Haroche, Julien, Diamond, Eli L., Emile, Jean-Francois, Helias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frederic, Hyman, David M., Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Karen Leroy, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Phlippe, Donadieu, Jean, Taly, Valerie, Amoura, Zahir, and Abdel-Wahab, Omar

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