{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T11:08:38Z","timestamp":1716376118162},"reference-count":14,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\nBackground: <\/jats:title>\nChoroid plexus carcinoma (CPC) is an uncommon aggressive neuroectodermal-derived childhood brain malignancy with a dismal prognosis, especially when tumor protein p53 (TP53) mutations or malfunctions are present. The occurrence of these cancers is linked to germline and somatic anomalies at a number of genetic loci. We present a case report of CPC in two siblings which was found to be linked to a unique genetic mutation of TP53 in heterozygous state in both the father and the patient.<\/jats:p>\n<\/jats:sec>\n\nCase Description: <\/jats:title>\nA 2-year-old female child presented with a history of vomiting, headache, and seizures. A brain magnetic resonance imaging discovered a large-sized lesion in the left lateral ventricle with infiltration to surrounding brain parenchyma suggestive of aggressive choroid plexus neoplasm. Her only sibling (sister) died of CPC 1 year ago. Her parents are apparently healthy with no history of the central nervous system malignancies in the maternal and paternal sides. Since two children in a family were affected with CPC, genomic profiling of parents and patients was done. A novel frameshift variant c.72dupA,p. (Leu25Thrfs Ter4) was observed in exon 2 of TP53 in a heterozygous state in the proband. This variant was observed in her father in the heterozygous state.<\/jats:p>\n<\/jats:sec>\n\nConclusion: <\/jats:title>\nCPC affecting siblings, associated with novel frameshift mutation in TP<\/jats:italic>53 and inherited in an autosomal dominant pattern, is a rare entity. It has importance in genetic counseling and planning targeted molecular treatment. Genetic profiling is important for prognostication, as P53 pathway dysfunction carries a dismal prognosis, especially when it is associated with Li-Fraumeni syndrome.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/sni_380_2022","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T12:57:26Z","timestamp":1661518646000},"page":"381","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Choroid plexus carcinoma in two siblings, with a novel genetic mutation in TP53 \u2013 A case report and review of literature"],"prefix":"10.25259","volume":"13","author":[{"given":"Ramesh C.","family":"Vasudevan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shameej 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