Familial hematological malignancies: new IDH2 mutation.

Abstract:

:Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.We report one IDH1 variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three IDH2 variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. The enrolled in silico analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.From an extended number of candidate genes analyzed in familial hematological malignancies, IDH2 might be considerably involved since we reported a potential damaging effect.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Hamadou WS,Bourdon V,Létard S,Brenet F,Laarif S,Besbes S,Paci A,David M,Penard-Lacronique V,Youssef YB,Laatiri MA,Eisinger F,Mari V,Gesta P,Dreyfus H,Bonadona V,Dugast C,Zattara H,Faivre L,Noguchi T,Khélif A,Sal

doi

10.1007/s00277-016-2813-9

subject

Has Abstract

pub_date

2016-12-01 00:00:00

pages

1943-1947

issue

12

eissn

0939-5555

issn

1432-0584

pii

10.1007/s00277-016-2813-9

journal_volume

95

pub_type

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