Lymphedema
Investigators from University of Adelaide Zero in on Lymphedema
Published in Blood Weekly, March 22nd, 2012
2012 MAR 22 -- According to the authors of a study from Adelaide, Australia, "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 with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus."
"Intriguingly, 2 MDS/AML or 'MonoMAC'...
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Source: Blood Weekly (2012-03-22)
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