Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway

... GTR 36 New seizures and MRI abnormality after 36 months Neg FGFR2-KIAA1598 a 7 10 M HA/dizziness 6days R occipital GTR 62 NED Neg FGFR2-KIAA1598 8 23 F Seizures N/A R medial temporal GTR 12 NED Neg 9 32 F Seizures 26years R temporal GTR 55 NED, no seizures N/A 10 24 F Visual disturbances 2years R occipital GTR 12 NED N/A Cases 18 received BRAF genotyping and methylation profiling. Cases 15, and 7 received ArcherDx profiling a Presence of fusion inferred by deletion event chromosome 10 Seven

... identified FGFR fusions, FGFR3-TACC3 and FGFR2-KIAA1598, were initially reported in earlier profiling studies of cholangiocarcinoma, GBM, and pediatric low-grade glioma [ 16 , 18 , 39 , 48 ]. Moreover, FGFR3-TACC3 has been validated as an oncogenic driver in multiple glioma-relevant disease model systems [ 39 ]. Fig.4 FGFR fusions in PLNTY. Schematics showing the tandem duplication and deletion events resulting in FGFR3-TACC ( a ), FGFR2-KIAA1598 ( b ), and FGFR2-CTNNA3 ( b ) fusions. c Copy number profiles from chromosome 10 showing causative deletion events for FGFR2-KIAA1598 ( upper ) and FGFR2-CTNNA3 ( lower ) fusions in two ArcherDx-confirmed cases (5 and 7). Red and green indicate relative copy number loss and gain respectively. The genomic positions of CTNNA3 , KIAA1598 , and FGFR2 are indicated. d Both fusion events are recapitulated in two additional cases identified in the DFKZ database. In the case of the likely FGFR2-CTNNA3 fusion ( lower ), noise precludes definitive segmentation of the deletion event ( blue line ) FGFR fusions are thought to drive enhanced downstream signaling through MAP kinase pathway effectors by way of homodimerization and autophosphorylation, a process mediated by coiled coil domains resident in their respective fusion partners (e.g., TACC3, KIAA1598) [ 16 , 39 ]. The third fusion transcript identified in our sample set, which is novel, pairs FGFR2 with exons 1418 of CTNNA3. Interestingly, while CTNNA3 does not harbor coiled coils per se, exons 1418

... additional likely FGFR2-KIAA1598 fusion event in a tumor that had not undergone ArcherDX analysis (Table 1 , case 6). No additional recurrent copy number aberrations were identified (FIG. S1). Genome-wide methylation profiling segregates PLNTYs from other pediatric low-grade neuroepithelial tumors To better determine the precise molecular classification of PLNTYs and gain insight into their histogenesis, we performed genome-wide DNA methylation analysis on eight samples in our cohort using the Infinium

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Gene: KIAA1598 - KIAA1598 - (NCBI)

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