PDF

Keywords

gliosarcoma
IDH-1 mutation
Li-Fraumeni Syndrome
TP53

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

Abstract

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.

PDF

Downloads

Download data is not yet available.
Romanian Neurosurgery – Journals. London Academic Publishing
(Visited 1,943 times, 1 visits today)