VASCULAR BIOLOGY Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
نویسندگان
چکیده
*Jan Kazenwadel,1 *Genevieve A. Secker,1 *Yajuan J. Liu,2 Jill A. Rosenfeld,3 Robert S. Wildin,4 Jennifer Cuellar-Rodriguez,5 Amy P. Hsu,5 Sarah Dyack,6 Conrad V. Fernandez,7 Chan-Eng Chong,8,9 Milena Babic,8 Peter G. Bardy,1 Akiko Shimamura,10,11 Michael Y. Zhang,10,12 Tom Walsh,12 Steven M. Holland,5 Dennis D. Hickstein,13 Marshall S. Horwitz,2 *Christopher N. Hahn,8,9 Hamish S. Scott,8,9,14 and Natasha L. Harvey1,9
منابع مشابه
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
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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Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). Despite well-defined roles in hematopoiesis, the functions of GATA2 in the lymphatic vasculature and ...
متن کاملGATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency; familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); and Emberger syndrome (primary lymphedema with MDS). A comprehensive examination of the clinical features of GATA2 deficiency is cu...
متن کاملHeritable 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...
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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