Bibliographic Details
| Title: |
ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. |
| Authors: |
Gandhi Damaj, Magalie Joris, Olivia Chandesris, Katia Hanssens, Erinn Soucie, Danielle Canioni, Brigitte Kolb, Isabelle Durieu, Emanuel Gyan, Cristina Livideanu, Stephane Chèze, Momar Diouf, Reda Garidi, Sophie Georgin-Lavialle, Vahid Asnafi, Ludovic Lhermitte, Christian Lavigne, David Launay, Michel Arock, Olivier Lortholary, Patrice Dubreuil, Olivier Hermine |
| Source: |
PLoS ONE, Vol 9, Iss 1, p e85362 (2014) |
| Publisher Information: |
Public Library of Science (PLoS), 2014. |
| Publication Year: |
2014 |
| Collection: |
LCC:Medicine
LCC:Science |
| Subject Terms: |
Medicine, Science |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1932-6203 |
| Relation: |
http://europepmc.org/articles/PMC3897447?pdf=render; https://doaj.org/toc/1932-6203 |
| DOI: |
10.1371/journal.pone.0085362 |
| Access URL: |
https://doaj.org/article/a9f758f3a1984ffd8dfa6d263d7c9597 |
| Accession Number: |
edsdoj.9f758f3a1984ffd8dfa6d263d7c9597 |
| Database: |
Directory of Open Access Journals |
