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ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases.

Authors: Damaj, G  Joris, M  Chandesris, O  Hanssens, K  Soucie, E  Canioni, D  Kolb, B  Durieu, I  Gyan, E  Livideanu, C  Cheze, S  Diouf, M  Garidi, R  Georgin-Lavialle, S  Asnafi, V  Lhermitte, L  Lavigne, C  Launay, D  Arock, M  Lortholary, O  Dubreuil, P  Hermine, O 
Citation: Damaj G, etal., PLoS One. 2014 Jan 21;9(1):e85362. doi: 10.1371/journal.pone.0085362. eCollection 2014.
Pubmed: (View Article at PubMed) PMID:24465546
DOI: Full-text: DOI:10.1371/journal.pone.0085362

Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD) is a rare and heterogeneous subtype of SM and few studies on this specific entity have been reported. Sixty two patients with Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD) were presented. Myeloid AHNMD was the most frequent (82%) cases. This subset of patients were older, had more cutaneous lesions, splenomegaly, liver enlargement, ascites; lower bone mineral density and hemoglobin levels and higher tryptase level than lymphoid AHNMD. Defects in KIT, TET2, ASXL1 and CBL were positive in 87%, 27%, 14%, and 11% of cases respectively. The overall survival of patients with SM-AHNMD was 85.2 months. Within the myeloid group, SM-MPN fared better than SM-MDS or SM-AML (p = 0.044,). In univariate analysis, the presence of C-findings, the AHNMD subtypes (SM-MDS/CMML/AML versus SM-MPN/hypereosinophilia) (p = 0.044), Neutropenia (p = 0.015), high monocyte level (p = 0.015) and the presence of ASXL1 mutation had detrimental effects on OS (p = 0.007). In multivariate analysis and penalized Cox model, only the presence of ASXL1 mutation remained an independent prognostic factor that negatively affected OS (p = 0.035). SM-AHNMD is heterogeneous with variable prognosis according to the type of the AHNMD. ASXL1 is mutated in a subset of myeloid AHNMD and adversely impact on OS.

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CRRD Object Information
CRRD ID: 11038711
Created: 2016-02-22
Species: All species
Last Modified: 2016-02-22
Status: ACTIVE



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