PMID- 22725730 OWN - NLM STAT- MEDLINE DCOM- 20130815 LR - 20211021 IS - 1750-3639 (Electronic) IS - 1015-6305 (Print) IS - 1015-6305 (Linking) VI - 23 IP - 2 DP - 2013 Mar TI - Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. PG - 121-8 LID - 10.1111/j.1750-3639.2012.00612.x [doi] AB - 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. CI - (c) 2012 The Authors; Brain Pathology (c) 2012 International Society of Neuropathology. FAU - Bridge, Julia A AU - Bridge JA AD - Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA. jbridge@unmc.edu FAU - Liu, Xiao-Qiong AU - Liu XQ FAU - Sumegi, Janos AU - Sumegi J FAU - Nelson, Marilu AU - Nelson M FAU - Reyes, Christine AU - Reyes C FAU - Bruch, Leslie A AU - Bruch LA FAU - Rosenblum, Marc AU - Rosenblum M FAU - Puccioni, Mark J AU - Puccioni MJ FAU - Bowdino, Bradley S AU - Bowdino BS FAU - McComb, Rodney D AU - McComb RD LA - eng GR - U10 CA098543/CA/NCI NIH HHS/United States GR - U-10-CA98543-091/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20120723 PL - Switzerland TA - Brain Pathol JT - Brain pathology (Zurich, Switzerland) JID - 9216781 RN - 0 (Antigens, CD) RN - 0 (Organic Cation Transport Proteins) RN - 0 (SLC44A1 protein, human) RN - EC 2.7.11.13 (PRKCA protein, human) RN - EC 2.7.11.13 (Protein Kinase C-alpha) SB - IM MH - Adolescent MH - Adult MH - Antigens, CD/*genetics MH - Brain Neoplasms/*genetics/pathology/surgery MH - Carcinoma, Papillary/*genetics/pathology/surgery MH - Child MH - Cytogenetics MH - Female MH - Frontal Lobe/pathology/surgery MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - *Oncogene Fusion MH - Organic Cation Transport Proteins/*genetics MH - Parietal Lobe/pathology/surgery MH - Protein Kinase C-alpha/*genetics MH - Temporal Lobe/pathology/surgery PMC - PMC8029478 COIS- The authors declare that they have no conflict of interest. EDAT- 2012/06/26 06:00 MHDA- 2013/08/16 06:00 PMCR- 2012/07/23 CRDT- 2012/06/26 06:00 PHST- 2012/05/15 00:00 [received] PHST- 2012/06/06 00:00 [accepted] PHST- 2012/06/26 06:00 [entrez] PHST- 2012/06/26 06:00 [pubmed] PHST- 2013/08/16 06:00 [medline] PHST- 2012/07/23 00:00 [pmc-release] AID - BPA612 [pii] AID - 10.1111/j.1750-3639.2012.00612.x [doi] PST - ppublish SO - Brain Pathol. 2013 Mar;23(2):121-8. doi: 10.1111/j.1750-3639.2012.00612.x. Epub 2012 Jul 23.