关键词: Eosinophilia FGFR1 Hematopoietic Lymphoid Myeloproliferative Neoplasm RUNX1 ZMYM2

Mesh : Adult Bone Marrow / pathology Chromosomes, Human, Pair 13 / genetics Chromosomes, Human, Pair 17 / genetics Chromosomes, Human, Pair 21 / genetics Chromosomes, Human, Pair 8 / genetics Core Binding Factor Alpha 2 Subunit / genetics Fatal Outcome Gene Rearrangement Humans Immunophenotyping In Situ Hybridization, Fluorescence Karyotyping Male Myeloproliferative Disorders / genetics pathology Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics pathology Receptor, Fibroblast Growth Factor, Type 1 / genetics Translocation, Genetic

来  源:   DOI:10.1309/AJCPUD6W1JLQQMNA

Abstract:
OBJECTIVE: Myeloid and lymphoid neoplasms with abnormalities of fibroblast growth factor receptor 1 gene (FGFR1) are a rare and aggressive disease group that harbors translocations of FGFR1 with at least 14 recognized partner genes. We report a case of a patient with a novel t(17;21)(p13;q22) with RUNX1 rearrangement and trilineage blasts.
METHODS: A 29-year-old man with relapsed T-lymphoblastic lymphoma in the cervical nodes showed a myeloproliferative neoplasm in his bone marrow with three separate populations of immunophenotypically aberrant myeloid, T-lymphoid, and B-lymphoid blasts by flow cytometry. Cytogenetic and fluorescent in situ hybridization studies showed unique dual translocations of t(8;13)(p11.2;q12) and t(17;21)(p13;q22) with RUNX1 rearrangement.
RESULTS: The patient was initiated on a mitoxantrone, etoposide, and cytarabine chemotherapy regimen and died of complications of disease 1 month later.
CONCLUSIONS: To our knowledge, this is the first reported case of a myeloid and lymphoid neoplasm with abnormalities of FGFR1 with t(17;21)(p13;q22) and trilineage blasts.
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