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Cited by 396

The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.

Somatic Mutations Predict Poor Outcome in Patients With Myelodysplastic Syndrome After Hematopoietic Stem-Cell Transplantation

Open access
Bejar, Rafael, Stevenson, Kristen E., Caughey, Bennett, Lindsley, R. Coleman, Mar, Brenton G., Stojanov, Petar, Getz, Gad, Steensma, David P., Ritz, Jerome, Soiffer, Robert, Antin, Joseph H., Alyea, Edwin, Armand, Philippe, Ho, Vincent, Koreth, John, Neuberg, Donna, Cutler, Corey S., Ebert, Benjamin L.·2014·Journal of Clinical Oncology
DOI 10.1200/jco.2013.52.3381
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Abstract

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 < .001) and progression-free survival (HR, 3.97; P < .001). After adjustment for clinical variables associated with these end points, mutations in TP53 (HR, 2.30; P = .027), TET2 (HR, 2.40; P = .033), and DNMT3A (HR, 2.08; P = .049) were associated with decreased OS. In multivariable analysis including clinical variables, complex karyotype status, and candidate genes, mutations in TP53 (HR, 4.22; P ≤ .001) and TET2 (HR, 1.68; P = .037) were each independently associated with shorter OS. Nearly one half of patients (46%) carried a mutation in TP53, DNMT3A, or TET2 and accounted for 64% of deaths. Three-year OS in patients without these mutations was 59% (95% CI, 43% to 72%), versus 19% (95% CI, 9% to 33%) in patients with these mutations. Conclusion: Mutations in TP53, TET2, or DNMT3A identify patients with MDS with shorter OS after HSCT.

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Metadata

Authors
Bejar, R., Stevenson, K. E., Caughey, B., Lindsley, R. C., Mar, B. G., Stojanov, P., Getz, G., Steensma, D. P., Ritz, J., Soiffer, R., Antin, J. H., Alyea, E., Armand, P., Ho, V., Koreth, J., Neuberg, D., Cutler, C. S., & Ebert, B. L.
Venue
Journal of Clinical Oncology
Publisher
American Society of Clinical Oncology (ASCO)
Published
2014-09-01
Volume
32
Issue
25
Pages
2691-2698
ISSN
  • 0732-183X (ISSN-L)
  • 1527-7755
DOI
10.1200/jco.2013.52.3381
OpenAlex
W2150754539
Cited by
396
References
8
FWCI
31.43
Type
journal article
Language
en
Open access
green

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