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Article

Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720-2A>G variant.

Journal of clinical laboratory analysis - 1 May 2022

Kanduła Zuzanna, Kroll-Balcerzak Renata, Lewandowski Krzysztof

Abstract excerpt

BACKGROUND: The prognosis in polycythemia vera (PV) is comparatively favorable, but individual myelofibrosis/leukemic progression risk is heterogeneous. About a quarter of patients progress to the fibrotic phase after 20 years. METHODS: Multiplex PCR, allele-specific qPCR, high-resolution melt analysis, and Sanger sequencing were used to detect BCR-ABL, JAK2, ASXL1, SRSF2, U2AF1, and IDH1/2 variants. RESULTS:...

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PMID: 35435261
DOI: 10.1002/jcla.24388
PMCID: PMC9102755

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