Article
SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.
Leukemia - 1 Jan 2018
Martinelli G, Mancini M, De Benedittis C, Rondoni M, Papayannidis C, Manfrini M, Meggendorfer M, Calogero R, Guadagnuolo V, Fontana M C, Bavaro L, Padella A, Zago E, Pagano L, Zanotti R, Scaffidi L, Specchia G, Albano F, Merante S, Elena C, Savini P, Gangemi D, Tosi P, Ciceri F, Poletti G, Riccioni L, Morigi F, Delledonne M, Haferlach T, Cavo M, Valent P, Soverini S
Abstract excerpt
The molecular basis of advanced systemic mastocytosis (SM) is not fully understood and despite novel therapies the prognosis remains dismal. Exome sequencing of an index-patient with mast cell leukemia (MCL) uncovered biallelic loss-of-function mutations in the SETD2 histone methyltransferase gene. Copy-neutral loss-of-heterozygosity at 3p21.3 (where SETD2 maps) was subsequently found in SM patients and prompted...
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