IDH-1 mutation
Li-Fraumeni Syndrome

How to Cite

Abdulla , E., Hameed , N. ., & Arora , R. . (2021). A solitary case of gliosarcoma an indication for TP53 mutation analysis: a non-concordant finding: Case report. Romanian Neurosurgery, 35(2), 210–214. Retrieved from http://www.journals.lapub.co.uk/index.php/roneurosurgery/article/view/1753


Background: Li-Fraumeni syndrome (LFS) is a hereditary, autosomal dominant malignancy predisposition induced by a mutant TP53. Here, we describe a gliosarcoma (GS) case with a clinical family history impressive for an LFS case in the absence of inherited germline TP53 mutations. 

Case description: We present a 44-year-old female with a right high parietal mass.  The mass proved pathologically to be GS with an isocitrate dehydrogenase-1 (IDH1) mutation. Pedigree analysis identified five first-degree and second-degree relatives with LFS spectrum malignancies. The patient tested positive for TP53 mutation; however, her family tested negative.

Conclusion: Of all the tumours, GSs are the least described entity with LFS. We are highlighting the need to do a genetic survey in family members of the patient who has been diagnosed to have gliosarcoma and other tumours consistent with LFS.



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Romanian Neurosurgery – Journals. London Academic Publishing
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