Myeloid and lymphoid neoplasm with abnormalities of FGFR1 presenting with trilineage blasts and RUNX1 rearrangement: a case report and review of literature

Am J Clin Pathol. 2015 May;143(5):738-48. doi: 10.1309/AJCPUD6W1JLQQMNA.

Abstract

Objectives: 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.

Keywords: Eosinophilia; FGFR1; Hematopoietic; Lymphoid; Myeloproliferative; Neoplasm; RUNX1; ZMYM2.

Publication types

  • Case Reports
  • Review

MeSH terms

  • 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*
  • Myeloproliferative Disorders / pathology
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Translocation, Genetic*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1