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Clinical Features of Genetic Aberrations Evaluated

Am J Hematol; ePub 2017 Mar 23; Kandarpa, et al

Publish date:: April 23, 2017

Hematopoietic cells from patients with myeloproliferative neoplasms (MPNs) contain a number of genetic aberrations, and some appear to contribute to clonal dominance, according to a study involving next-generation sequencing of neoplastic cells from patients with dual MPNs. Among the findings:

Patients with 2 MPNs had mutations in genes known to contribute to clonal hematopoiesis through altered epigenetic regulation (such as TET2, ASXL1/2, SRSF2, and IDH2) at varying frequencies.
Some patients also carried oncogenic mutations in N/KRAS, TP53, BRAF, EZH2, GNAS at low frequencies, which likely represent clonal evolution.

The authors concluded that the presence of the BCR-ABL fusion gene in these patients is usually a secondary event resulting from an unstable genome.

Citation:

Kandarpa M, Wu Y, Robinson D, Burke P, Chinnaiyan A, Talpaz M. Clinical characteristics and whole exome/transcriptome sequencing of coexisting chronic myeloid leukemia and myelofibrosis. [Published online ahead of print March 23, 2017]. Am J Hematol. doi:10.1002/ajh.24728.

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