Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. Academic Article uri icon

Overview

abstract

  • Mixed neuronal-glial tumors are rare and challenging to subclassify. One recently recognized variant, papillary glioneuronal tumor (PGNT), is characterized by prominent pseudopapillary structures and glioneuronal elements. We identified a novel translocation, t(9;17)(q31;q24), as the sole karyotypic anomaly in two PGNTs. A fluorescence in situ hybridization (FISH)-based positional cloning strategy revealed SLC44A1, a member of the choline transporter-like protein family, and PRKCA, a protein kinase C family member of serine/threonine-specific protein kinases, as the 9q31 and 17q24 breakpoint candidate genes, respectively. Reverse transcription-polymerase chain reaction (RT-PCR) analysis using a forward primer from SLC44A1 exon 5 and a reverse primer from PRKCA exon 10 confirmed the presence of a SLC44A1-PRKCA fusion product in both tumors. Sequencing of each chimeric transcript uncovered an identical fusion cDNA junction occurring between SLC44A1 exon 15 and PRKCA exon 9. A dual-color breakpoint-spanning probe set custom-designed for interphase cell recognition of the translocation event identified the fusion in a third PGNT. These results suggest that the t(9;17)(q31;q24) with the resultant novel fusion oncogene SLC44A1-PRKCA is the defining molecular feature of PGNT that may be responsible for its pathogenesis. The FISH and RT-PCR assays developed in this study can serve as valuable diagnostic adjuncts for this rare disease entity.

publication date

  • July 23, 2012

Research

keywords

  • Antigens, CD
  • Brain Neoplasms
  • Carcinoma, Papillary
  • Oncogene Fusion
  • Organic Cation Transport Proteins
  • Protein Kinase C-alpha

Identity

PubMed Central ID

  • PMC8029478

Scopus Document Identifier

  • 84874477670

Digital Object Identifier (DOI)

  • 10.1111/j.1750-3639.2012.00612.x

PubMed ID

  • 22725730

Additional Document Info

volume

  • 23

issue

  • 2