The First Case Report of JAK2–BCR–PPP1R32 Fusion Genes Because of a Translocation (9;22;11)(p24;q11.2;q13) in a Patient With Myeloproliferative Neoplasm

Abstract

Dear Editor, The most common genomic abnormality in Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) is a functional V617F mutation in the Janus kinase 2 (JAK2) kinase-like structural domain [1,2]. Although chromosomal translocation involving JAK2 is rare, it has been reported in hematological malignancies [3]. Because of similar clinical features, experts advocate that all rare JAK2 rearrangement cases should be classified into the same category [4]. We report a case of MPN with BCR-JAK2 and BCR-PPP1R32 rearrangements, showing t(9;22; 11)(p24;q11.2;q13). To our knowledge, this is the first report of PPP1R32 as a novel fusion partner of BCR. Written informed consent was obtained from the patient for publication of this case report and accompanying images. This case study was approved by the Institutional Review Board of Army Medical University, Chongqing, China (No.2021-219).A 56-year-old man was admitted to our outpatient clinic in March 2020 for fatigue and left upper abdominal pain. Peripheral blood examination indicated a white blood cell (WBC) count of 178.1 × 10 9 /L (25.0% neutrophils, 4.0% lymphocytes, 1.0% monocytes, 4.0% eosinophils, 0% basophils, 18.0% late granu-