Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia.

@article{Reinig2016TargetedNS,
  title={Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia.},
  author={Erica Reinig and Fei Yang and Elie Traer and Ranjana Arora and Shari Brown and Rogan M. Rattray and Rita M. Braziel and Guang Fan and Richard D Press and Jennifer B Dunlap},
  journal={American journal of clinical pathology},
  year={2016},
  volume={145 4},
  pages={497-506}
}
OBJECTIVES Optimal integration of next-generation sequencing (NGS) into clinical practice in hematologic malignancies remains unclear. We evaluate the utility of NGS in myeloid malignancies. METHODS A 42-gene panel was used to sequence 109 cases of myelodysplastic syndrome (MDS, n = 38), chronic myelomonocytic leukemia (CMML, n = 14), myeloproliferative neoplasm (MPN, n = 24), and MDS and/or MPN transformed to acute myeloid leukemia (AML, n = 33). RESULTS At least one pathogenic mutation… CONTINUE READING
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