Oncogenic KIAA1549-BRAF fusion with activation of the MAPK/ERK pathway in pediatric oligodendrogliomas

Cancer Genetics
Anupam KumarChitra Sarkar

Abstract

Pediatric oligodendrogliomas (pODGs) are rare central nervous system tumors, and comparatively little is known about their molecular pathogenesis. Co-deletion of 1p/19q; and IDH1, CIC, and FUBP1 mutations, which are molecular signatures of adult oligodendrogliomas, are extremely rare in pODGs. In this report, two pODGs, one each of grade II and grade III, were evaluated using clinical, radiological, histopathologic, and follow-up methods. IDH1, TP53, CIC, H3F3A, and BRAF-V600 E mutations were analyzed by Sanger sequencing and immunohistochemical methods, and 1p/19q co-deletion was analyzed by fluorescence in situ hybridization. PDGFRA amplification, BRAF gain, intragenic duplication of FGFR-TKD, and KIAA1549-BRAF fusion (validated by Sanger sequencing) were analyzed by real-time reverse transcription PCR. Notably, both cases showed the oncogenic KIAA1549_Ex15-BRAF_Ex9 fusion transcript. Further, immunohistochemical analysis showed activation of the MAPK/ERK pathway in both of these cases. However, neither 1p/19q co-deletion; IDH1, TP53, CIC, H3F3A, nor BRAF-V600 E mutation; PDGFRA amplification; BRAF gain; nor duplication of FGFR-TKD was identified. Overall, this study highlights that pODGs can harbor the KIAA1549-BRAF fusion w...Continue Reading

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Citations

Sep 9, 2016·South Asian Journal of Cancer·Archya DasguptaRakesh Jalali
Sep 24, 2016·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Alvaro LassalettaUri Tabori
May 3, 2018·Journal of Neuropathology and Experimental Neurology·Sherise D FergusonAmy B Heimberger
Oct 4, 2018·Medical Sciences : Open Access Journal·Ugo TestaElvira Pelosi
Aug 31, 2019·Cancers·Karisa C SchreckChristine A Pratilas
Jul 20, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Hetakshi KuraniSridhar Epari
Aug 8, 2021·Journal of Neuropathology and Experimental Neurology·Cristiane M IdaCaterina Giannini

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