Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor

Julia A. Bridge, Xiao Qiong Liu, Janos Sumegi, Marilu Nelson, Christine Reyes, Leslie A. Bruch, Marc Rosenblum, Mark J Puccioni, Bradley S. Bowdino, Rodney D McComb

Research output: Contribution to journalArticle

26 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)121-128
Number of pages8
JournalBrain Pathology
Volume23
Issue number2
DOIs
StatePublished - Mar 1 2013

Fingerprint

Exons
Neoplasms
Fluorescence In Situ Hybridization
Reverse Transcription
Oncogene Fusion
Polymerase Chain Reaction
Protein-Serine-Threonine Kinases
Interphase
Rare Diseases
Neuroglia
Protein Kinase C
Organism Cloning
Complementary DNA
Color
Genes
Proteins

Keywords

  • PRKCA
  • SLC44A1
  • cytogenetic
  • fusion gene
  • papillary glioneuronal tumor

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine
  • Clinical Neurology

Cite this

Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. / Bridge, Julia A.; Liu, Xiao Qiong; Sumegi, Janos; Nelson, Marilu; Reyes, Christine; Bruch, Leslie A.; Rosenblum, Marc; Puccioni, Mark J; Bowdino, Bradley S.; McComb, Rodney D.

In: Brain Pathology, Vol. 23, No. 2, 01.03.2013, p. 121-128.

Research output: Contribution to journalArticle

Bridge, JA, Liu, XQ, Sumegi, J, Nelson, M, Reyes, C, Bruch, LA, Rosenblum, M, Puccioni, MJ, Bowdino, BS & McComb, RD 2013, 'Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor', Brain Pathology, vol. 23, no. 2, pp. 121-128. https://doi.org/10.1111/j.1750-3639.2012.00612.x
Bridge, Julia A. ; Liu, Xiao Qiong ; Sumegi, Janos ; Nelson, Marilu ; Reyes, Christine ; Bruch, Leslie A. ; Rosenblum, Marc ; Puccioni, Mark J ; Bowdino, Bradley S. ; McComb, Rodney D. / Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. In: Brain Pathology. 2013 ; Vol. 23, No. 2. pp. 121-128.
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