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Etiology and PathogenesisHereditary Tumor Syndromes


Journal of Neuro-Oncology, 71(1): 27-30, January 2005. (Case Study)


Abstract

Atypical molecular background of glioblastoma and meningioma developed in a patient with Li–Fraumeni syndrome

Piotr Rieske, Magdalena Zakrzewska, Wojciech Biernat, Jacek Bartkowiak, Arthur Zimmermann and Paweł Piotr Liberski

Department of Molecular Pathology and Neurology, Chair of Oncology [P.R., M.Z. P.P.L.]; Department of Tumor Pathology, Chair of Oncology [W.B.]; Department of Medical Biochemistry, Institute of Physiology and Biochemistry [J.B.], Medical University of Lodz, Lodz, Poland. Institute of Pathology, Division of Surgical Pathology, University of Bern, Switzerland [A.Z.]. Pawel Piotr Liberski, Czechoslowacka st. 8/10, 92-216 Lodz, Poland [P.P.L].
Correspondence to:
Paweł Piotr Liberski, Email: ppliber@csk.am.lodz.pl, Phone: +48-42-679-1477, Fax: +48-42-679-1477.

We observed three neoplasms with completely different histologies: malignant fibrous histiocytoma (MFH), atypical meningioma (AM), and glioblastoma (GB), developing in a patient with Li–Fraumeni syndrome. 
By using a combined molecular approach we performed molecular characterization of all three tumours. 
Data obtained showed an interesting molecular background of the AM and GB. 
AM showed TP53 mutations and a 22q loss of heterozygosity (LOH). 
GB showed epidermal growth factor receptor (EGFR) amplification and TP53 mutations, whereas P16, PTEN, Rb were intact in terms of LOH and/or multiplex PCR (polymerase chain reaction) analysis. 
Additionally, GB has a 1q LOH, which is an extremely rare alteration in glioblastomas. 
Identical 1q LOH was also observed in MFH.

Keywords: glioblastoma - Li–Fraumeni syndrome - malignant fibrous histiocytoma - meningioma - TP53

© Springer 2005

Source: http://springerlink.metapress.com/openurl.asp?genre=article&eissn=1573-7373&volume=71&issue=1&spage=27
DOI: http://dx.doi.org/10.1007/s11060-004-9181-3


 

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