Rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome: a case report and review of the literature

Journal of Medical Case Reports

Case Report

Bianca Bianco¹  Maria Candida Barisson Villares Fragoso²  Flávia de Sousa Gehrke³  Luiz Guilherme Cernaglia Aureliano de Lima⁴  Alexandre Cruz Henriques⁵  Flavia Balsamo⁵  Jaques Waisberg⁶  Natalia Parisi Severino⁷ 

[1] Human Reproduction and Genetics Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil;Oncology Department, Instituto do Câncer do Estado de São Paulo, São Paulo, SP, Brazil;Pathology Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil;Pathology Department, Instituto do Câncer do Estado de São Paulo, São Paulo, SP, Brazil;Surgery Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil;Surgery Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil;Teaching and Research Development Center, Hospital do Servidor Público Estadual de São Paulo, São Paulo, SP, Brazil;Surgery Department, Hospital do Servidor Público Estadual de São Paulo, São Paulo, SP, Brazil;

关键词: Leiomyosarcoma;    Li–Fraumeni syndrome;    TP53;    Mutation;    Case report;   

DOI  :  10.1186/s13256-022-03671-6

 received in 2021-11-13, accepted in 2022-11-07,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundLeiomyosarcoma is a rare malignant tumor of smooth muscle origin and represents 10–20% of all soft tissue sarcomas. Primary colon and rectal sarcomas constitute < 0.1% of all large bowel malignancies. In Li–Fraumeni syndrome, sarcomas are the second most frequent cancer (25%). Li–Fraumeni syndrome is a genetic disease with a familial predisposition to multiple malignant neoplasms. This syndrome has an autosomal dominant pattern of inheritance and high penetrance characterized by germline TP53 mutations. Patients with a history of cancer who do not meet all the “classic” criteria for Li–Fraumeni syndrome are considered to have Li–Fraumeni-like syndrome. To the best of our knowledge, this article is the first report of a patient with rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome. The authors also present a literature review.Case presentationA 67-year-old Brazilian woman underwent anterior rectosigmoidectomy and panhysterectomy secondary to rectal leiomyosarcoma. She subsequently developed carcinomatosis and died 2 years after the operation. Her family medical history consisted of a daughter who died at 32 years of age from breast cancer, a granddaughter diagnosed with adrenocortical carcinoma at 6 years of age and two siblings who died from prostate cancer. A genetic study was carried out to identify a pathogenic variant of Li–Fraumeni syndrome. In the DNA extracted from the peripheral blood leukocyte, restriction fragment length polymorphism was analyzed to search for mutations in the TP53 gene. The DNA sequencing identified the germline pathogenic variant p. R337H heterozygous in exon 10 of TP53. The patient was classified as having Li–Fraumeni-like syndrome.ConclusionIn patients with rectal leiomyosarcoma, it is advisable to investigate the family history of cancer and perform genetic studies to screen for Li–Fraumeni syndrome.

【 授权许可】

CC BY   
© The Author(s) 2022

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