WebDICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the … WebMar 25, 2024 · Context: DICER1 mutations are found in multinodular goiter and differentiated thyroid carcinoma in children, and can be a manifestation of DICER1 …
Identification of a Novel DICER1 Germline Mutation in Thyroid ...
WebSep 25, 2024 · Citation, DOI, disclosures and article data. DICER1 syndrome is a rare autosomal dominant disorder predisposing individual to the development of multiple tumor types. DICER1 is considered a tumor suppressor gene that encodes the endoribonuclease protein Dicer. The first association with pleuropulmonary blastoma was discovered in 2009. WebJun 22, 2024 · The tumours exhibited DICER1 pathogenic variants (hereafter referred to as “mutations”), were located in the peritoneal cavity and occurred in children at a mean of … 14冠達成 歯磨き
DICER1 Syndrome: DICER1 Mutations in Rare Cancers - PubMed
WebFeb 25, 2024 · Facial Plastic Surgery; ... The demographic characteristics and thyroid-related clinical features of the 25 participants with DICER1 pLOF variation are given in Table 2 and are similar ... a cystic lesion of … WebMolecular genetic sequencing of the tumor sample revealed a DICER1 mutation. Summary and conclusion: This report highlights the importance of screening for DICER1 mutations in the presence of the early-onset features of this syndrome, and extends the spectrum of DICER1-related tumors by showing the mutation in a case of ERMS of the uterine corpus. WebAug 3, 2024 · Introduction. DICER1 syndrome is a rare tumor predisposition syndrome caused by germline DICER1 mutation, which is related to a variety of benign and malignant diseases. Our report is the first described case of these three disease phenotypes of DICER1 syndrome. The female patient with a novel germline DICER1 nonsense … 1 4加成反应机理