Association between esophageal leiomyomatosis and p53 mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23522203.
- Also identified by DOI 10.1016/j.athoracsur.2012.08.081.
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Abstract
Li-Fraumeni syndrome is a cancer predisposition syndrome associated with a variety of neoplasms, mainly soft tissue sarcoma, premenopausal breast cancer, brain tumors, adrenocortical carcinoma, and leukemia. Esophageal leiomyomatosis involves the presence of several rare benign neoplastic lesions composed of proliferating smooth muscle cells in the esophageal wall. The current case report presents a patient with recurrent diffuse leiomyomas of the esophagus and confirmed p53 mutation with clinical criteria of Li-Fraumenilike syndrome.
Medical subject headings
- DNA, Neoplasm
- Esophageal Neoplasms
- Esophagus
- Genes, p53
- Leiomyomatosis
- Mutation