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

Vanessa Fiorini Furtado; Neeraj Y Saini; William Walsh; Venu Bathini; Patricia M Miron

doi:10.1186/s13039-018-0405-1

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.

Authors

Vanessa Fiorini Furtado¹, Neeraj Y Saini², William Walsh², Venu Bathini^#², Patricia M Miron^#³

Affiliations

¹ 1Department of Internal Medicine, University of Massachusetts Medical School, 55 Lake Avenue N, Worcester, MA 01655 USA.
² 2Division of Hematology/Oncology, University of Massachusetts Medical School, Worcester, MA USA.
³ Department of Pathology, UmassMemorial Medical Center, Worcester, MA USA.

^# Contributed equally.

Abstract

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.