ABSTRACT
BACKGROUND: Leiomyosarcoma 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 PRESENTATION: A 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. CONCLUSION: In patients with rectal leiomyosarcoma, it is advisable to investigate the family history of cancer and perform genetic studies to screen for Li-Fraumeni syndrome.
Subject(s)
Adrenal Cortex Neoplasms , Adrenocortical Carcinoma , Leiomyosarcoma , Li-Fraumeni Syndrome , Pelvic Neoplasms , Rectal Neoplasms , Male , Female , Humans , Child , Aged , Li-Fraumeni Syndrome/complications , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/genetics , Leiomyosarcoma/diagnosis , Leiomyosarcoma/genetics , Leiomyosarcoma/surgery , Tumor Suppressor Protein p53/genetics , Rectal Neoplasms/diagnosis , Rectal Neoplasms/genetics , Rectal Neoplasms/surgery , Adrenal Cortex Neoplasms/complications , Adrenal Cortex Neoplasms/genetics , Genetic Predisposition to DiseaseABSTRACT
Contexto: A hiperidrose consiste em uma disfunção simpática que acomete 0,6 por cento a 1 por cento da população mundial. Essa produção excessiva de suor afeta significativamente a qualidade de vida desses pacientes. Objetivo: Aplicar um questionário aos pacientes operados de hiperidrose para comparar a qualidade de vida desses pacientes antes e após a cirurgia. Além disso, identificas os diferentes tipos de hiperidrose e os possíveis efeitos colaterais ou complicações pós-operatórias. Métodos: Foi feita uma análise retrospectiva dos prontuários de 30 pacientes (21 mulheres e nove homens) submetidos à simpatectomia por videotoracoscopia no Hospital Universitário Antônio Pedro, no Hospital Santa Cruz e no Hospital de Clínicas Niterói, entre os anos de 2001 a 2005. Resultado: A cirurgia foi bem sucedida em 86,6 por cento dos casos. Em 13,3 por cento dos pacientes houve recorrência de hiperidrose axilar. Destes, um foi reoperado, não obtendo, no entanto, o resultado esperado. Houve somente uma complicação cirúrgica e 86,6 por cento dos pacientes afirmaram ter melhora em sua qualidade de vida. Conclusão: A pesquisa pode comprovar que a simpatectomia por videotoracoscopia é capaz de promover melhorias na qualidade de vida da maioria dos pacientes operados.