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.