KIAA1549-BRAF fusion gene and isocitrate dehydrogenase (IDH) mutations are considered two mutually exclusive genetic events in pilocytic astrocytomas and diffuse gliomas, respectively. We investigated the presence of the KIAA1549-BRAF fusion gene in conjunction with IDH mutations and 1p/19q loss in 185 adult diffuse gliomas. Moreover BRAFv600E mutation was also screened. The KIAA1549-BRAF fusion gene was evaluated by reverse-transcription polymerase chain reaction (RT-PCR) and sequencing. We found IDH mutations in 125 out 175 cases (71.4%). There were KIAA1549-BRAF fusion gene in 17 out of 180 (9.4%) cases and BRAFv600E in 2 out of 133 (1.5%) cases. In 11 of these 17 cases, both IDH mutations and the KIAA1549-BRAF fusion were present, as independent molecular events. Moreover, 6 of 17 cases showed co-presence of 1p/19q loss, IDH mutations and KIAA1549-BRAF fusion. Among the 17 cases with KIAA1549-BRAF fusion gene 15 (88.2%) were oligodendroglial neoplasms. Similarly, the two cases with BRAFv600E mutation were both oligodendroglioma and one had IDH mutations and 1p/19q co-deletion. Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAFv600E mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway. Such alterations are more frequent in oligodendroglial neoplasm and may be co-present with IDH mutations and 1p/19q loss.

KIAA1549-BRAF Fusions and IDH Mutations Can Coexist in Diffuse Gliomas of Adults / M., Badiali; V., Gleize; S., Paris; L., Moi; S., Elhouadani; A., Arcella; R., Morace; Antonelli, Manila; Buttarelli, Francesca Romana; D., Figarella Branger; Y. H., Kim; H., Ohgaki; K., Mokhtari; M., Sanson; Giangaspero, Felice. - In: BRAIN PATHOLOGY. - ISSN 1015-6305. - ELETTRONICO. - 22:6(2012), pp. 841-847. [10.1111/j.1750-3639.2012.00603.x]

KIAA1549-BRAF Fusions and IDH Mutations Can Coexist in Diffuse Gliomas of Adults.

ANTONELLI, MANILA;BUTTARELLI, Francesca Romana;GIANGASPERO, FELICE
2012

Abstract

KIAA1549-BRAF fusion gene and isocitrate dehydrogenase (IDH) mutations are considered two mutually exclusive genetic events in pilocytic astrocytomas and diffuse gliomas, respectively. We investigated the presence of the KIAA1549-BRAF fusion gene in conjunction with IDH mutations and 1p/19q loss in 185 adult diffuse gliomas. Moreover BRAFv600E mutation was also screened. The KIAA1549-BRAF fusion gene was evaluated by reverse-transcription polymerase chain reaction (RT-PCR) and sequencing. We found IDH mutations in 125 out 175 cases (71.4%). There were KIAA1549-BRAF fusion gene in 17 out of 180 (9.4%) cases and BRAFv600E in 2 out of 133 (1.5%) cases. In 11 of these 17 cases, both IDH mutations and the KIAA1549-BRAF fusion were present, as independent molecular events. Moreover, 6 of 17 cases showed co-presence of 1p/19q loss, IDH mutations and KIAA1549-BRAF fusion. Among the 17 cases with KIAA1549-BRAF fusion gene 15 (88.2%) were oligodendroglial neoplasms. Similarly, the two cases with BRAFv600E mutation were both oligodendroglioma and one had IDH mutations and 1p/19q co-deletion. Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAFv600E mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway. Such alterations are more frequent in oligodendroglial neoplasm and may be co-present with IDH mutations and 1p/19q loss.
2012
deregulation of the ras-raf-erk signaling pathway; idh1 mutation; 1p19q loss; kiaa1549/braf fusion gene; braf fusion gene; braf mutation; kiaa1549; diffuse gliomas
01 Pubblicazione su rivista::01a Articolo in rivista
KIAA1549-BRAF Fusions and IDH Mutations Can Coexist in Diffuse Gliomas of Adults / M., Badiali; V., Gleize; S., Paris; L., Moi; S., Elhouadani; A., Arcella; R., Morace; Antonelli, Manila; Buttarelli, Francesca Romana; D., Figarella Branger; Y. H., Kim; H., Ohgaki; K., Mokhtari; M., Sanson; Giangaspero, Felice. - In: BRAIN PATHOLOGY. - ISSN 1015-6305. - ELETTRONICO. - 22:6(2012), pp. 841-847. [10.1111/j.1750-3639.2012.00603.x]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/466410
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