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Interpretation 59
Tier 1
PRPF8
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Interpretation

PRPF8 (Pre-MRNA Processing Factor 8) is a component of the RNA splicing machinery. Somatic PRPF8 mutations have been reported in less than 5% of cases of myelodysplastic syndrome/secondary AML and PRPF8 mutation status may be used, together with other clinical and molecular markers, in some prognostic models of MDS .

Citations
  1. Haferlach T, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 2014;28(2):241-7
  2. Makishima H, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012;119(14):3203-10
Last updated: 2016-06-05 01:50:01 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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