Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm

Mol Cytogenet. 2018 Oct 19:11:56. doi: 10.1186/s13039-018-0405-1. eCollection 2018.


The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.

Keywords: Myeloproliferative neoplasm; PDGFR mutation.