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Gene sequencing bone marrow in myelodysplastic syndrome

Duncavage EJ et al. N Engl J Med 2018;379:1028-41.

Key clinical point: Myelodysplastic syndrome (MDS)–associated mutations present 30 days after stem cell transplant may be predict disease progression and survival.

Major finding: Higher maximum variant allele frequency of residual disease–associated mutations at 30 days posttransplantation was significantly associated with disease progression and lower rates of progression-free survival at 1 year.

Study details: Exploratory study of mutations pre- and posttransplant in 90 patients with primary or therapy-related MDS or secondary acute myeloid leukemia.

Disclosures: The study was supported by grants from the Leukemia and Lymphoma Society, Edward P. Evans Foundation, National Cancer Institute, National Institutes of Health, Gabrielle’s Angel Foundation, and the Lottie Caroline Hardy Trust. Dr. Duncavage disclosed personal fees from AbbVie and Cofactor Genomics. The majority of the coauthors reported nothing to disclose.

Read the article here.


Duncavage EJ et al. N Engl J Med 2018;379:1028-41.