Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.
نویسندگان
چکیده
Author details Department of Pathology, Northwestern University Feinberg School of Medicine, Feinberg 7-209A, 251 E. Huron Street, Chicago, IL 60611, USA. Division of Hematology and Oncology, Department of Internal Medicine, Northwestern University Feinberg School of Medicine, 251 E. Huron Street, Chicago, IL 60611, USA. Department of Pathology, University of Washington, Seattle, WA 98195, USA. Present address: Seattle Children’s Research Institute, Seattle, WA 98101, USA.
منابع مشابه
Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature
A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozy...
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Recent work has established that heterozygous germline GATA2 mutations predispose carriers to familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), "MonoMAC" syndrome, and DCML deficiency. Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another...
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UNLABELLED Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and susceptibility to infections. These neutropenias may be isolated or associated with immunologic defects or extra-hematopoietic manifestations. Complications may occur as infectious diseases, but also less frequently as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Recently, t...
متن کاملSpectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineura...
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ورودعنوان ژورنال:
- Journal of hematology & oncology
دوره 8 شماره
صفحات -
تاریخ انتشار 2015