ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia
| العنوان: | ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia |
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| المؤلفون: | Gelsi-Boyer, Véronique, Trouplin, Virginie, Roquain, Julien, Adelaïde, José, Carbuccia, Nadine, Esterni, Benjamin, Finetti, Pascal, Murati, Anne, Arnoulet, Christine, Zerazhi, Hacène, Fezoui, Hacene, Tadrist, Zoulika, Nezri, Meyer, Chaffanet, Max, MARIE-JOELLE, MOZZICONACCI, Vey, Norbert, Birnbaum, Daniel |
| المساهمون: | Biopathology, Centre de Recherche en Cancérologie de Marseille (CRCM / U891 Inserm), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biostatistics, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Médecine Interne Onco-hématologie, Centre Hospitalier Général, Medecine, Hopital Font Pre, Hematology, CH Martigues, Hematology (IPC-Marseille) |
| المصدر: | British Journal of Haematology British Journal of Haematology, Wiley, 2010, 151 (4), pp.365. ⟨10.1111/j.1365-2141.2010.08381.x⟩ |
| بيانات النشر: | HAL CCSD, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | hemic and lymphatic diseases, [SDV]Life Sciences [q-bio], Medicine |
| الوصف: | International audience; Chronic myelomonocytic leukemia (CMML) is a haematological disease currently classified in the category of myelodysplastic syndromes/myeloproliferative neoplasm (MDS/MPN) because of its dual clinical and biological presentation. The molecular biology of CMML is poorly characterized. We studied a series of 53 CMML samples including 31 cases of myeloproliferative form (MP-CMML) and 22 cases of myelodysplastic forms (MD-CMML) using array-comparative genomic hybridization (aCGH) and sequencing of 13 candidate genes including ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, PTPN11, RUNX1, TET2 and WT1. Mutations in ASXL1 and in the genes associated with proliferation (CBL, FLT3, PTPN11, RAS) were mainly found in MP-CMML cases. Mutations of ASXL1 correlated with an evolution toward an acutely transformed state: all CMMLs that progressed to acute phase were mutated and none of the unmutated patients had evolved to acute leukaemia. The overall survival of ASXL1 mutated patients was lower than that of unmutated patients. |
| اللغة: | English |
| تدمد: | 0007-1048 1365-2141 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d649258fd3983e71e7d3583750b612de https://hal.archives-ouvertes.fr/hal-00580698/file/PEER_stage2_10.1111%2Fj.1365-2141.2010.08381.x.pdf |
| رقم الأكسشن: | edsair.dedup.wf.001..d649258fd3983e71e7d3583750b612de |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00071048 13652141 |
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