ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia

被引：194

作者：

Gelsi-Boyer, Veronique ^{[1
,2
,3
]}

Trouplin, Virginie ^{[1
]}

Roquain, Julien ^{[1
]}

Adelaide, Jose ^{[1
]}

Carbuccia, Nadine ^{[1
]}

Esterni, Benjamin ^{[4
]}

Finetti, Pascal ^{[1
]}

Murati, Anne ^{[1
,2
]}

Arnoulet, Christine ^{[2
]}

Zerazhi, Hacene ^{[5
]}

Fezoui, Hacene ^{[6
]}

Tadrist, Zoulika ^{[7
]}

Nezri, Meyer ^{[8
]}

Chaffanet, Max ^{[1
]}

Mozziconacci, Marie-Joeelle ^{[1
,3
]}

Vey, Norbert ^{[3
,9
]}

Birnbaum, Daniel ^{[1
]}

机构：

[1] Ctr Rech Cancerol Marseille, Oncol Mol Lab, UMR891, INSERM,Inst Paoli Calmettes, F-13009 Marseille, France

[2] Univ Mediterrane Aix Marseille II, Marseille, France

[3] Inst Paoli Calmettes, Dept BioPathol, Marseille, France

[4] Inst Paoli Calmettes, Bur Etudes Clin, Marseille, France

[5] Ctr Hosp Gen Avignon, Serv Med Interne Oncohematol, Avignon, France

[6] Hosp Intercommunal Toulon, Hosp Font Pre Ctr, Serv Oncohematol, Toulon, France

[7] Ctr Hosp Gen Salon de Provence, Serv Med Interne Oncohematol, Salon De Provence, France

[8] Ctr Hosp Gen Martigues, Serv Med Interne, Marseille, France

[9] Inst Paoli Calmettes, Dept Hematol, Marseille, France

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2010年 / 151卷 / 04期

关键词：

array-CGH; ASXL1; chronic myelomonocytic leukaemia; mutations; gene mutation; prognosis; WORLD-HEALTH-ORGANIZATION; MYELODYSPLASTIC SYNDROMES; MYELOID-LEUKEMIA; RAS MUTATIONS; GENE MUTATION; CLASSIFICATION; FREQUENT; RUNX1; TET2; HYBRIDIZATION;

D O I：

10.1111/j.1365-2141.2010.08381.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P>Chronic myelomonocytic leukaemia (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 hybridisation (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, NRAS) 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.

引用

页码：365 / 375

页数：11

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