Molecular identification of a TPR-FGFR1 fusion transcript in an adult with myeloproliferative neoplasm, T-lymphoblastic lymphoma, and a t(1;8)(q25;p11.2)

Cancer Genet. 2014 Jun;207(6):258-62. doi: 10.1016/j.cancergen.2014.05.011. Epub 2014 Jun 7.

Abstract

The 8p11 myeloproliferative syndrome is an aggressive neoplasm associated with chromosomal abnormalities involving rearrangement of the fibroblast growth factor receptor 1 (FGFR1) gene. We report herein a rare case of a t(1;8)(q25;p11.2) with a TPR-FGFR1 rearrangement, in which the patient presented with myeloproliferative neoplasm-like symptoms and T-lymphoblastic lymphoma. Sequence analysis revealed a fusion transcript with exon 22 of the TPR gene joined to exon 13 of the FGFR1 gene, which is a novel breakpoint for the TPR gene in the TPR-FGFR1 rearrangement.

Keywords: Myeloid and lymphoid neoplasm with FGFR1 abnormality; TPR-FGFR1; t(1;8)(q25;p11.2).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 8*
  • Humans
  • Male
  • Middle Aged
  • Nuclear Pore Complex Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Translocation, Genetic*

Substances

  • Nuclear Pore Complex Proteins
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • TPR protein, human
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1