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Familial hematological malignancies: new IDH2 mutation.

Walid-Sabri Hamadou1, Violaine Bourdon2, Sébastien Létard3

  • 1UR "Biologie moléculaire des leucémies et lymphomes," Laboratoire de Biochimie, Faculté de Médecine de Sousse, Université de Sousse - Tunisie, Avenue Mohamed Karoui, 4002, Sousse, Tunisia. walid_sabrimail@yahoo.fr.

Annals of Hematology
|September 5, 2016
PubMed
Summary

Germline mutations in isocitrate dehydrogenase (IDH) 1 and 2 genes were investigated in familial cancer cases. IDH2 gene mutations may play a role in familial hematological malignancies, showing a potential damaging effect.

Keywords:
Familial hematological malignanciesGermline mutationIDH1IDH2

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Isocitrate dehydrogenase (IDH) 1 and 2 mutations are known in various cancers, particularly hematological malignancies.
  • Their role in familial cancer aggregation has not been previously explored.

Purpose of the Study:

  • To investigate the involvement of germline IDH1 and IDH2 gene mutations in familial cancer cases.
  • To determine if specific IDH mutations are associated with familial hematological malignancies.

Main Methods:

  • Targeted sequencing of IDH1 and IDH2 genes in 104 familial cases from Tunisian and French populations.
  • Analysis included hematological malignancies and co-segregated solid tumors.
  • In silico analysis and functional studies were performed on identified variants.

Main Results:

  • One IDH1 variant (c.315 G>T, p.Gly105Gly) was found in 15% of cases, linked to poorer outcomes.
  • Three IDH2 variants were identified, including a novel potentially deleterious variant (c.389 A>T, p.Lys130Met) in a Waldenstrom's disease patient with a family cancer history.
  • Absence of the p.Lys130Met variant in control populations supported its harmful effect.

Conclusions:

  • Germline IDH1 and IDH2 mutations are present in familial cancer cases.
  • The IDH2 gene is potentially implicated in familial hematological malignancies due to a novel, damaging variant.
  • Further research into IDH2's role in hereditary cancers is warranted.