• Medicine · Feb 2021

    Case Reports

    Myeloid tumors accompanying systemic mastocytosis, basophilia, and abnormal platelet-derived growth factor receptor β: A case report.

    • Yanfen Li, Yu Jing, Hua Wan, and Daihong Liu.
    • Department of Hematology, Chinese PLA General Hospital.
    • Medicine (Baltimore). 2021 Feb 26; 100 (8): e24707e24707.

    IntroductionMyeloid neoplasms with platelet-derived growth factor receptor β (PDGFRB) rearrangement usually present with eosinophilia in the peripheral blood and bone marrow. Here we report a case of systemic mastocytosis related myeloid neoplasms with basophilia and PRKG2-PDGFRB fusion gene.Patients ConcernsA 53-year-old male patient felt fatigue with thrombocythemia and normal hemoglobin over 2 years. Considering the possibility of primary thrombocytosis, the patient was treated with hydroxyurea and interferon. Then the therapy was stopped due to adverse events and worsen condition.DiagnosisAcute myelogenous leukemia (AML) diagnosis was confirmed by bone marrow morphology and flow cytometry. PDGFRB rearrangement was detected by fluorescence in situ hybridization (FISH) test, with chromosome karyotype 46,XY,t(4:5)(q21:q33). PRKG2-PDGFRB fusion was observed by next generation sequencing (NGS) and verified by RT-PCR followed by Sanger sequencing. The results of bone marrow aspiration, bone marrow biopsy, and immunophenotyping showed systemic mastocytosis-related myeloid tumor with basophilia.InterventionsImatinib 400 mg/d was given on the day of admission. Azacitidine 75 mg/m2 was given for induction therapy for 10 days, and followed by one course of DHAG consolidating therapy. Imatinib was taken orally continuously.OutcomesOn the 8th day of treatment, the patient's diet and fatigue improved. The hematological and bone marrow morphological remission was achieved on the 25th day. Cytogenetic complete remission was achieved 3 months later and continued to present (December 20, 2020). PRKG2-PDGFRB fusion gene turned negative 7 months later from diagnosis.LessonsPatients with increased basophilic granulocyte and/or mast cells in peripheral blood and/or bone marrow should be screened for PDGFRB abnormality and myeloid or lymphatic tumor. Patients bearing PDGFRB abnormality have a good response to imatinib.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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