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Published in: Acta Neuropathologica 2/2012

01-02-2012 | Correspondence

Recurrent PIK3CA mutations in rosette-forming glioneuronal tumor

Authors: Benjamin Ellezam, Brett J. Theeler, Rajyalakshmi Luthra, Adekunle M. Adesina, Kenneth D. Aldape, Mark R. Gilbert

Published in: Acta Neuropathologica | Issue 2/2012

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Excerpt

Rosette-forming glioneuronal tumor (RGNT) is a recently described CNS neoplasm generally involving posterior midline structures with frequent extension in the fourth ventricle [5]. With only one case of postoperative recurrence reported to date [8], RGNT is considered to have favorable outcome and the current standard of care is surgical excision without adjuvant therapy. To date, no molecular alterations have been reported for this tumor. Alterations in the PI3K/AKT pathway are frequent in many cancers [11] and have been reported in CNS tumors [1, 2, 6, 7]. Here, we report the identification of frequent PIK3CA mutations in a series of RGNTs reviewed at our institution. …
Literature
1.
go back to reference Bettegowda C, Agrawal N, Jiao Y et al (2011) Mutations in CIC and FUBP1 contribute to human oligodendroglioma. Science 333:1453–1455PubMedCrossRef Bettegowda C, Agrawal N, Jiao Y et al (2011) Mutations in CIC and FUBP1 contribute to human oligodendroglioma. Science 333:1453–1455PubMedCrossRef
2.
go back to reference Broderick DK, Di C, Parrett TJ, Samuels YR, Cummins JM, McLendon RE, Fults DW, Velculescu VE, Bigner DD, Yan H (2004) Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. Cancer Res 64:5048–5050PubMedCrossRef Broderick DK, Di C, Parrett TJ, Samuels YR, Cummins JM, McLendon RE, Fults DW, Velculescu VE, Bigner DD, Yan H (2004) Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. Cancer Res 64:5048–5050PubMedCrossRef
3.
go back to reference Broniscer A, Baker SJ, West AN et al (2007) Clinical and molecular characteristics of malignant transformation of low-grade glioma in children. J Clin Oncol 25:682–689PubMedCrossRef Broniscer A, Baker SJ, West AN et al (2007) Clinical and molecular characteristics of malignant transformation of low-grade glioma in children. J Clin Oncol 25:682–689PubMedCrossRef
5.
go back to reference Hainfellner JA, Scheithauer BW, Giangaspero F, Rosenblum MK (2007) Rosette-forming glioneuronal tumour of the fourth ventricle. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (eds) WHO classification of tumours of the central nervous system, 4th edn. International Agency for Research on Cancer, Lyon, pp 115–116 Hainfellner JA, Scheithauer BW, Giangaspero F, Rosenblum MK (2007) Rosette-forming glioneuronal tumour of the fourth ventricle. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (eds) WHO classification of tumours of the central nervous system, 4th edn. International Agency for Research on Cancer, Lyon, pp 115–116
6.
go back to reference Hartmann C, Bartels G, Gehlhaar C, Holtkamp N, von Deimling A (2005) PIK3CA mutations in glioblastoma multiforme. Acta Neuropathol 109:639–642PubMedCrossRef Hartmann C, Bartels G, Gehlhaar C, Holtkamp N, von Deimling A (2005) PIK3CA mutations in glioblastoma multiforme. Acta Neuropathol 109:639–642PubMedCrossRef
7.
go back to reference Hartmann C, Devermann L, Gehlhaar C, Holtkamp N, von Deimling A (2006) PIK3CA mutations in oligodendroglial tumours. Neuropathol Appl Neurobiol 32:209–212PubMedCrossRef Hartmann C, Devermann L, Gehlhaar C, Holtkamp N, von Deimling A (2006) PIK3CA mutations in oligodendroglial tumours. Neuropathol Appl Neurobiol 32:209–212PubMedCrossRef
8.
go back to reference Jacques TS, Eldridge C, Patel A, Saleem NM, Powell M, Kitchen ND, Thom M, Revesz T (2006) Mixed glioneuronal tumour of the fourth ventricle with prominent rosette formation. Neuropathol Appl Neurobiol 32:217–220PubMedCrossRef Jacques TS, Eldridge C, Patel A, Saleem NM, Powell M, Kitchen ND, Thom M, Revesz T (2006) Mixed glioneuronal tumour of the fourth ventricle with prominent rosette formation. Neuropathol Appl Neurobiol 32:217–220PubMedCrossRef
10.
go back to reference Rodriguez EF, Scheithauer BW, Giannini C, Rynearson A, Cen L, Hoesley B, Gilmer-Flynn H, Sarkaria JN, Jenkins S, Long J, Rodriguez FJ (2011) PI3K/AKT pathway alterations are associated with clinically aggressive and histologically anaplastic subsets of pilocytic astrocytoma. Acta Neuropathol 121:407–420PubMedCrossRef Rodriguez EF, Scheithauer BW, Giannini C, Rynearson A, Cen L, Hoesley B, Gilmer-Flynn H, Sarkaria JN, Jenkins S, Long J, Rodriguez FJ (2011) PI3K/AKT pathway alterations are associated with clinically aggressive and histologically anaplastic subsets of pilocytic astrocytoma. Acta Neuropathol 121:407–420PubMedCrossRef
11.
go back to reference Samuels Y, Wang Z, Bardelli A et al (2004) High frequency of mutations of the PIK3CA gene in human cancers. Science 304:554PubMedCrossRef Samuels Y, Wang Z, Bardelli A et al (2004) High frequency of mutations of the PIK3CA gene in human cancers. Science 304:554PubMedCrossRef
12.
go back to reference Sasaki H, Zlatescu MC, Betensky RA, Ino Y, Cairncross JG, Louis DN (2001) PTEN is a target of chromosome 10q loss in anaplastic oligodendrogliomas and PTEN alterations are associated with poor prognosis. Am J Pathol 159:359–367PubMedCrossRef Sasaki H, Zlatescu MC, Betensky RA, Ino Y, Cairncross JG, Louis DN (2001) PTEN is a target of chromosome 10q loss in anaplastic oligodendrogliomas and PTEN alterations are associated with poor prognosis. Am J Pathol 159:359–367PubMedCrossRef
13.
go back to reference Schindler G, Capper D, Meyer J et al (2011) Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 121:397–405PubMedCrossRef Schindler G, Capper D, Meyer J et al (2011) Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 121:397–405PubMedCrossRef
14.
go back to reference Thomas RK, Baker AC, DeBiasi RM et al (2007) High-throughput oncogene mutation profiling in human cancer. Nat Genet 39:347–351PubMedCrossRef Thomas RK, Baker AC, DeBiasi RM et al (2007) High-throughput oncogene mutation profiling in human cancer. Nat Genet 39:347–351PubMedCrossRef
15.
go back to reference Wick W, Weller M, Weiler M, Batchelor T, Yung AW, Platten M (2011) Pathway inhibition: emerging molecular targets for treating glioblastoma. Neuro Oncol 13:566–579PubMedCrossRef Wick W, Weller M, Weiler M, Batchelor T, Yung AW, Platten M (2011) Pathway inhibition: emerging molecular targets for treating glioblastoma. Neuro Oncol 13:566–579PubMedCrossRef
Metadata
Title
Recurrent PIK3CA mutations in rosette-forming glioneuronal tumor
Authors
Benjamin Ellezam
Brett J. Theeler
Rajyalakshmi Luthra
Adekunle M. Adesina
Kenneth D. Aldape
Mark R. Gilbert
Publication date
01-02-2012
Publisher
Springer-Verlag
Published in
Acta Neuropathologica / Issue 2/2012
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-011-0886-z

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