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J Clin Oncol DOI:10.1200/JCO.2013.52.3381

Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation.

Publication TypeJournal Article
Year of Publication2014
AuthorsBejar, R, Stevenson, KE, Caughey, B, R Lindsley, C, Mar, BG, Stojanov, P, Getz, G, Steensma, DP, Ritz, J, Soiffer, R, Antin, JH, Alyea, E, Armand, P, Ho, V, Koreth, J, Neuberg, D, Cutler, CS, Ebert, BL
JournalJ Clin Oncol
Date Published2014 Sep 01
KeywordsAdult, Aged, Disease-Free Survival, Female, Hematopoietic Stem Cell Transplantation, Humans, Male, Middle Aged, Mutation, Myelodysplastic Syndromes, Prognosis, Transplantation Conditioning, Transplantation, Autologous, Treatment Outcome, Young Adult

PURPOSE: Recurrently mutated genes in myelodysplastic syndrome (MDS) are pathogenic drivers and powerfully associated with clinical phenotype and prognosis. Whether these types of mutations predict outcome after allogeneic hematopoietic stem-cell transplantation (HSCT) in patients with MDS is not known.

PATIENTS AND METHODS: We used massively parallel sequencing to examine tumor samples collected from 87 patients with MDS before HSCT for coding mutations in 40 recurrently mutated MDS genes.

RESULTS: Mutations were identified in 92% of patients, most frequently in the ASXL1 (29%), TP53 (21%), DNMT3A (18%), and RUNX1 (16%) genes. In univariable analyses, only TP53 mutations were associated with shorter overall (OS; hazard ratio [HR], 3.74; P

CONCLUSION: Mutations in TP53, TET2, or DNMT3A identify patients with MDS with shorter OS after HSCT.


Alternate JournalJ. Clin. Oncol.
PubMed ID25092778
PubMed Central IDPMC4207878
Grant ListR01 HL082945 / HL / NHLBI NIH HHS / United States
T32 CA009172 / CA / NCI NIH HHS / United States
P30 CA023100 / CA / NCI NIH HHS / United States
K08 DK091360 / DK / NIDDK NIH HHS / United States
5K08DK091360 / DK / NIDDK NIH HHS / United States
R01 CA183559 / CA / NCI NIH HHS / United States
R01HL082945 / HL / NHLBI NIH HHS / United States