B-lymphoblastic leukemia/lymphoma associated with t(8;13)(p11;q12)/ ZMYM2 (ZNF198)-FGFR1 : rare case and review of the literature

Acta Haematol. 2013;130(3):127-34. doi: 10.1159/000347030. Epub 2013 Apr 16.

Abstract

Myeloid and lymphoid neoplasms with fibroblastic growth factor receptor-1 (FGFR1) abnormalities originate from mutated pluripotent stem cells and have a heterogeneous clinical presentation. There are 12 identified partner genes commonly involved in FGFR1 translocation at an 8p11 breakpoint. In FGFR1-related neoplasms, T-lymphoblastic lymphoma with eosinophilia is the most common clinical scenario, whereas acute B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is rare. To date, only 7 cases of B-ALL/LBL with FGFR1 abnormalities have been reported. Here, we report an additional case of a 64-year-old gentleman with leukocytosis, eosinophilia and diffuse mediastinal and general lymphadenopathy. Bone marrow examination showed patchy infiltrates of immature precursors/blasts, along with myeloid/eosinophilic hyperplasia. Immunophenotyping confirmed increased B lymphoblasts (30-40%). Karyotyping revealed cytogenetic abnormalities, including t(8;13)(p11;q12)/ZMYM2 (ZNF198)-FGFR1 and trisomy 21. The patient did not respond to hyper-CVAD chemotherapy and within 4 months developed acute myelomonocytic leukemia and expired 11 months after the initial diagnosis. Similar cases from the literature are reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / administration & dosage
  • B-Lymphocytes / metabolism
  • B-Lymphocytes / pathology
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Cyclophosphamide / administration & dosage
  • DNA-Binding Proteins / genetics*
  • Dexamethasone / administration & dosage
  • Down Syndrome
  • Doxorubicin / administration & dosage
  • Fatal Outcome
  • Humans
  • Leukemia, Monocytic, Acute / drug therapy
  • Leukemia, Monocytic, Acute / genetics
  • Leukemia, Monocytic, Acute / pathology
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Neoplasms, Second Primary / drug therapy
  • Neoplasms, Second Primary / genetics
  • Neoplasms, Second Primary / pathology
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • Vincristine / administration & dosage

Substances

  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Transcription Factors
  • ZMYM2 protein, human
  • Vincristine
  • Dexamethasone
  • Doxorubicin
  • Cyclophosphamide
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1

Supplementary concepts

  • CVAD protocol