Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms

被引：79

作者：

Saint-Martin, Cecile ^{[2
]}

Leroy, Gwendoline

Delhommeau, Francois ^{[2
,3
]}

Panelatti, Gerard ^{[4
]}

Dupont, Sabrina ^{[2
]}

James, Chloe ^{[5
]}

Plo, Isabelle ^{[2
]}

Bordessoule, Dominique ^{[6
]}

Chomienne, Christine ^{[7
]}

Delannoy, Andre ^{[8
]}

Devidas, Alain ^{[9
]}

Gardembas-Pain, Martine ^{[10
]}

Isnard, Francoise ^{[11
]}

Plumelle, Yves ^{[12
]}

Bernard, Olivier ^{[13
]}

Vainchenker, William ^{[2
]}

Najman, Albert ^{[11
]}

Bellanne-Chantelot, Christine ^{[1
,2
]}

机构：

[1] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom,Dept Genet, F-75651 Paris 13, France

[2] Inst Gustave Roussy, INSERM, U790, F-94805 Villejuif, France

[3] Hop St Antoine, AP HP, Hematol Lab, F-75571 Paris, France

[4] CHU Ft France, Dept Internal Med, Fort De France, France

[5] INSERM, U876, Bordeaux, France

[6] CHU Limoges, Dept Hematol, Limoges, France

[7] Univ Paris 07, Hop St Louis, AP HP, Dept Cellular Biol, Paris, France

[8] Catholic Univ Louvain, Dept Internal Med, B-3000 Louvain, Belgium

[9] Ctr Hosp Sud Francilien, Dept Hematol, Corbeil Essonnes, France

[10] CHU Angers, Dept Hematol, Angers, France

[11] Univ Paris 06, Hop St Antoine, AP HP, Dept Hematol, F-75651 Paris 13, France

[12] CHU Ft France, Hematol Lab, Fort De France, France

[13] Univ Paris 05, INSERM, E210, Paris, France

来源：

BLOOD | 2009年 / 114卷 / 08期

关键词：

ACUTE MYELOID-LEUKEMIA; TYROSINE KINASE JAK2; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; MUTATION; DISORDERS; DISEASE; MLL; T(10/11)(Q22; Q23); MYELOFIBROSIS;

D O I：

10.1182/blood-2009-01-197525

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The JAK2(V617F) mutation does not elucidate the phenotypic variability observed in myeloproliferative neoplasm (MPN) families. A putative tumor suppressor gene, TET2, was recently implicated in MPN and myelodysplastic syndromes through the identification of acquired mutations affecting hematopoietic stem cells. The present study analyzed the TET2 gene in 61 MPN cases from 42 families. Fifteen distinct mutations were identified in 12 (20%) JAK2(V617F)-positive or -negative patients. In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disease showed the sequential occurrence of JAK2(V617F) and TET2 mutations concomitantly to the disease evolution. Analysis of familial segregation confirmed that TET2 mutations were not inherited but somatically acquired. TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia. (Blood. 2009; 114: 1628-1632)

引用

页码：1628 / 1632

页数：5

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