title: Association between esophageal leiomyomatosis and p53 mutation.
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.
authors.affiliation: Department of Oncology, Rambam Health Care Campus and Technion-Israel Institute of Technology, Haifa, Israel.
authors.forename: Olga
authors.initials: O
authors.lastname: Kazarin
authors.forename: Eugene
authors.initials: E
authors.lastname: Vlodavsky
authors.forename: Ludmilla
authors.initials: L
authors.lastname: Guralnik
authors.forename: Ran
authors.initials: R
authors.lastname: Kremer
authors.forename: Jesse
authors.initials: J
authors.lastname: Lachter
authors.forename: Gil
authors.initials: G
authors.lastname: Bar-Sela
mesh_terms: D001706:Biopsy; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D016099:Endoscopy, Gastrointestinal; D004938:Esophageal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004947:Esophagus / Q000473:pathology*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D014057:Tomography, X-Ray Computed
chemical_list: D004273:DNA, Neoplasm