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Ref Type Journal Article
PMID (22271902)
Authors Bodor C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzova K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C
Title Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
Journal Haematologica
Vol 97
Issue 6
Date 2012 Jun
Abstract Text While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in RUNX1 or CEBPA. Recently, novel germline mutations in GATA2 have been reported. We, therefore, investigated individuals from families with one or more first-degree relatives with myelodysplastic syndrome/acute myeloid leukemia with wild-type RUNX1 and CEBPA, for GATA2 mutations. Screening for other recurrent mutations was also performed. A GATA2 p.Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodys-plastic syndrome with monosomy 7. They were also observed to have acquired identical somatic ASXL1 mutations and both died despite stem cell transplantation. These findings confirm that germline GATA2 mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia, and that monosomy 7 and ASXL1 mutations may be recurrent secondary genetic abnormalities triggering overt malignancy in these families.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
GATA2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, GATA2 germline mutations were shown to be a risk factor for the development of acute myeloid leukemia following myelodysplastic syndrome (PMID: 21892162, PMID: 22271902, PMID: 22147895, PMID: 22533337). 22533337 22271902 22147895 21892162