Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient

Guidi, Milena;Giunti, Laura;Lucchesi, Maurizio;Scoccianti, Silvia;GIGLIO, SABRINA RITA

Member of the Collaboration Group

;Favre, Claudio;Oliveri, Giuseppe;Sardi, Iacopo

2017-01-01

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Abstract

LFS is a rare hereditary cancer predisposition disease. This condition is associated with the development of various malignant tumors, even in the CNS. We reported a case of 16-monthold female patient with ACC who developed an expansive right parietal gliosarcoma at the age of 18. Gliosarcoma is a rare variant of glioblastoma multiforme. It is estimated to be present in approximately 2% of all glioblastomas with a dismal prognosis. Interestingly, TP53 gene analysis of our patient showed the germline mutation c.796G>A (p.Gly266Arg) in heterozygous. Germline TP53 mutations are responsible for a subset of metachronous malignancies in LFS patients. They are at risk for developing most common and rare brain tumors as gliosarcoma. A better knowledge of the tumors associated with LFS could help to identify individuals who should be tested for the presence of germline TP53 mutation. Moreover, the characterization of germline TP53 mutation in a family may consent an early identification of high-risk subjects and provide the basis for a correct surveillance with an appropriate long-life monitoring clinical and psychosocial program.