A Novel USP25::PDGFRA Gene Fusion in a 78 Year Old Patient with a Myeloid Neoplasm

Joanna C Dalland,Patrick R Blackburn,Kaaren K Reichard,Sarah H Johnson,James B Smadbeck,George Vasmatzis,Nicole L Hoppman,Xinjie Xu,Patricia T Greipp,Linda B Baughn,Jess F Peterson

LABORATORY MEDICINE（2022）

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摘要

The World Health Organization category of myeloid/lymphoid neoplasms with eosinophilia and PDGFRA rearrangements is composed of a heterogeneous group of neoplasms that can present as a myeloproliferative neoplasm, acute myeloid leukemia, myeloid sarcoma, or lymphoblastic leukemia/lymphoma. The overall outcome of these neoplasms is favorable with imatinib therapy. Herein, we describe an adult female patient with a myeloid neoplasm accompanied by eosinophilia and a novel USP25::PDGFRA gene fusion.

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关键词

PDGFRA, USP25, eosinophilia, mate-pair sequencing, next-generation sequencing

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