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1 records shown · first 60Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.
PMID 32368160 | PMCID PMC7183340 | DOI 10.2147/IMCRJ.S243405 · International medical case reports journal · 2020 · 24 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1050171 | “Seven synonymous mutations were detected in this tumor, viz., in IDH1 (rs11554137), in FGFR3 (rs7688609), in PDGFRA (rs1873778), in APC (COSM3760869), in EGFR (rs1050171), in MET (rs35775721), and in RET (rs1800861), respectively.” | 0.90 | hgvs_regex_v1 |
| gene | CTNNB1 | “PURPOSE: Several recent studies have documented CTNNB1 and BRAF mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors.” | 0.98 | hgnc_dict_v1 |
| gene | BRAF | “PURPOSE: Several recent studies have documented CTNNB1 and BRAF mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “In CTNNB1 gene a known missense mutation in c.101G>T; in TP53 a known missense mutation in c.215C>G; and two known missense variants in PIK3CA, viz., in c.1173A>G; in exon 7, and in c.3128T>C; in exon 21, were found, respectively.” | 0.98 | hgnc_dict_v1 |