Universität zu Köln

Gessi, Marco, von Bueren, Andre O., Treszl, Andras, Muehlen, Anja zur, Hartmann, Wolfgang ORCID: 0000-0002-7609-5022, Warmuth-Metz, Monika, Rutkowski, Stefan and Pietsch, Torsten (2014). MYCN amplification predicts poor outcome for patients with supratentorial primitive neuroectodermal tumors of the central nervous system. Neuro-Oncology, 96.575325880677 (4.98385010224095). S. 1329.18259023355 - 1335.94169234138. CARY: OXFORD UNIV PRESS INC. ISSN 1523-5867

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Abstract

Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are a rare group of neoplasms occurring in the CNS that includes supratentorial CNS-PNETs, medulloepitheliomas, and ependymoblastomas. While ependymoblastomas frequently carry chromosome 19q13.41 amplification and show aggressive clinical behavior, the biological mechanisms and molecular alterations contributing to the pathogenesis of supratentorial CNS-PNETs remain poorly understood. Moreover, genetic alterations suitable for molecular risk stratification are undefined to date. In order to identify possible molecular markers, we performed multiplex ligation-dependent probe amplification (MLPA) and molecular inversion probe (MIP) analysis on DNA samples of 25 supratentorial CNS-PNETs (median age, 5.35 years; range, 2.41-17.28 years). Tumors with ependymoblastic rosettes (ependymoblastoma/ETANTR) and LIN28A positivity were excluded. MLPA and MIP analysis revealed large losses of genomic material of chromosomes 3, 4, 5, and 13, while frequent gains affected chromosomes 1, 17, 19, 20, and 22. High copy number gains (amplifications) were found in particular at chromosomes 2p24.3 (MYCN, n = 6 cases) and 4q12 (n = 2 cases). Patients with tumors harboring 2p gain or MYCN amplification showed unfavorable overall survival (P = .003 and P = .001, respectively).These markers were independent of the presence of metastases, which was indeed a clinical factor associated with poor overall survival (P = .01) in this series. In the era of the personalized neuro-oncology, the identification of these molecular prognostic markers associated with patient outcome may represent a significant step towards improved patient stratification and risk-adapted therapeutic strategies for patients suffering from supratentorial CNS-PNETs.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Gessi, Marco UNSPECIFIED UNSPECIFIED UNSPECIFIED von Bueren, Andre O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Treszl, Andras UNSPECIFIED UNSPECIFIED UNSPECIFIED Muehlen, Anja zur UNSPECIFIED UNSPECIFIED UNSPECIFIED Hartmann, Wolfgang UNSPECIFIED orcid.org/0000-0002-7609-5022 UNSPECIFIED Warmuth-Metz, Monika UNSPECIFIED UNSPECIFIED UNSPECIFIED Rutkowski, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED Pietsch, Torsten UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-439698
DOI:	10.1093/neuonc/not303
Journal or Publication Title:	Neuro-Oncology
Volume:	96.575325880677
Number:	4.98385010224095
Page Range:	S. 1329.18259023355 - 1335.94169234138
Date:	2014
Publisher:	OXFORD UNIV PRESS INC
Place of Publication:	CARY
ISSN:	1523-5867
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PROGNOSTIC-FACTORS; CHILDHOOD MEDULLOBLASTOMA; CHILDREN; DISTINCT; CHEMOTHERAPY; PROMOTER; CDKN2A; PNET Multiple languages Oncology; Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43969