A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome

نویسندگان

چکیده

Li–Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer associated with germline pathogenic variants in the tumor protein p53 (TP53) gene and elevated risk of a broad range early-onset malignancies. Patients LFS are at second third primary tumor. A 15-month-old girl consulted for clitoromegaly pubic hair. Adrenal ultrasound detected large left adrenal Left total adrenalectomy confirmed adrenocortical carcinoma. Family history revealed multiple highly malignant neoplasms early age across five generations, genetic trait seemed probable. Whole-genome sequencing was performed. Multiple members family were found positive novel likely variant (c. 892delGinsTTT, p. Glu298PhefsX48, NM_000546.6) TP53 gene, causing loss normal function through non-sense-mediated mRNA decay. According to PSV1 supporting criteria Auto PVS1 online tool this frameshift variant: hg19/17-7577045-TC-TAAA:NM_000546.6 has very strong, definitive clinical validity inheritance. Proper guidance resulted timely diagnosis (primary osteosarcoma) index case detection breast cervical her young mother. predisposition syndromes like require close multidisciplinary surveillance appropriate referral expert centers.

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ژورنال

عنوان ژورنال: Children (Basel)

سال: 2023

ISSN: ['2227-9067']

DOI: https://doi.org/10.3390/children10071150