Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development

Altınkaya, Sündüz Özlem; Avcıoğlu, Sümeyra Nergiz; Sezer, Selda Demırcan; Ceylaner, Serdar

doi:10.1111/jog.14071

Cited by 1 publication

(1 citation statement)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…57 However, this variant is reported to be associated with an increased risk of leiomyoma development. 58 This mutation was detected in medulloblastoma tumor of a young patient and also in other cancers. 59,60 This TP53 variant also frequently altered in meningioma and in astrocytoma tumors, and predicted to be neutral with FATHMM score of 0.36.…”

Section: Discussionmentioning

confidence: 88%

Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis

Jastania¹,

Saeed²,

Alkhalidi³

et al. 2020

IMCRJ

View full text Add to dashboard Cite

Purpose: Several recent studies have documented CTNNB1 and BRAF mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors. This discovery is helpful in the development of novel targeted therapies in successful clinical trials with BRAF mutations in PCP cases. However, no such targeted therapy is available yet for ACP. Here, we report novel mutations, which are not previously reported, in a case of an adult ACP using NGS analysis. Results: Patient DNA was sequenced using Ion PI v3 chip on Ion Proton. A total of 16 variants were identified in this tumor by NGS analysis, out of which four were missense mutations, seven were synonymous mutations, and five were intronic variants. 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. 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. Three known, intronic variants were found in genes, such as PIK3CA, KDR, and JAK3, respectively. Also, a 3'-UTR and a splice site acceptor site variant in CSF1R and FLT3 genes were found in this tumor. We have shown allele coverage, allele ratio, and p-value, for all these mutations. The p-values and Phred quality score were significantly high for these variants. Conclusion: As reported in previous studies, in ACP tumors we found a CTNNB1 mutation by NGS analysis. The PIK3CA variants we detected were not known previously in ACP tumors. Finding the PIK3CA mutations in the ACP tumors may help develop targeted therapy for a subset of craniopharyngiomas with PIK3CA activating mutations. Clinical trials are in progress with specific PIK3CA inhibitors in advanced stages of many cancers.

show abstract

Section: Discussionmentioning

confidence: 88%