Cytogenetic and molecular abnormalities in Waldenström's macroglobulinemia patients: correlations and prognostic impact
| Autor: | Nayara Guedes, Santos A. Susin, Damien Roos-Weil, Clotilde Bravetti, Marine Baron, Luce Smagghe, Marine Armand, Veronique Leblond, Jonathan Caron, Florence Nguyen-Khac, Frederic Davi, Olivier A. Bernard, Clémentine Boccon‐Gibod, Elise Chapiro, Daphné Krzisch |
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| Přispěvatelé: | Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Gustave Roussy (IGR), Dynamique moléculaire de la transformation hématopoïétique (Dynamo), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, HAL-SU, Gestionnaire, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male medicine.medical_specialty complex karyotype medicine.medical_treatment CXCR4 Gastroenterology cytogenetic abnormalities Cytogenetics 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Aged Retrospective Studies Aged 80 and over Chromosome Aberrations Chemotherapy [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology business.industry Macroglobulinemia Waldenstrom macroglobulinemia Retrospective cohort study Karyotype Hematology Middle Aged CD79A medicine.disease mutations 3. Good health 030220 oncology & carcinogenesis Mutation Waldenström Female prognosis Waldenstrom Macroglobulinemia business Trisomy [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology 030215 immunology |
| Zdroj: | American Journal of Hematology American Journal of Hematology, 2021, ⟨10.1002/ajh.26339⟩ American Journal of Hematology, Wiley, 2021, ⟨10.1002/ajh.26339⟩ |
| ISSN: | 0361-8609 1096-8652 |
| DOI: | 10.1002/ajh.26339⟩ |
| Popis: | While Waldenstrom macroglobulinemia (WM) is characterized by an almost unifying mutation in MYD88, clinical presentation at diagnosis and response to therapy can be widely different among WM patients. Current prognostic tools only partially address this clinical heterogeneity. Limited data compiling both molecular and cytogenetic information have been used in risk prognostication in WM. To investigate the clinical impact of genetic alterations in WM, we evaluated cytogenetic and molecular abnormalities by chromosome banding analyses (CBA), FISH and targeted NGS in a retrospective cohort of 239 WM patients, including 187 patients treated by first-line chemotherapy or immunochemotherapy. Most frequent mutations were identified in MYD88 (93%), CXCR4 (29%), MLL2 (11%), ARID1A (8%), TP53 (8%), CD79A/B (6%), TBL1XR1 (4%) and SPI1 (4%). The median number of cytogenetic abnormalities was two (range, 0-22). Main cytogenetic abnormalities were 6q deletion (del6q) (27%), trisomy 4 (tri4) (12%), tri18 (11%), del13q (11%), tri12 (7.5%) and del17p (7%). Complex karyotype (CK) was observed in 15% (n=31) of cases, including 5% (n=12) of highly CK (high-CK). TP53 abnormalities (TP53abn) were present in 15% of evaluable patients. TP53abn and del6q were associated with CK/high-CK (P |
| Databáze: | OpenAIRE |
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