title: Chest wall leiomyosarcoma after breast-conservative therapy for early-stage breast cancer in a young woman with Li-Fraumeni syndrome.
abstract: Li-Fraumeni syndrome (LFS) is one of the most penetrant forms of familial cancer susceptibility syndromes, characterized by early age at tumor onset and a wide spectrum of malignant tumors. Identifying LFS in patients with cancer is clinically imperative because they have an increased sensitivity to ionizing radiation and are more likely to develop radiation-induced secondary malignancies. This case report describes a young woman whose initial presentation of LFS was early-onset breast cancer and whose treatment of this primary malignancy with breast conservation likely resulted in a secondary malignancy arising in her radiation field. As seen in this case, most breast cancers in patients with LFS exhibit a triple-positive phenotype (estrogen receptor-positive/progesterone receptor-positive/HER2-positive). Although this patient met classic LFS criteria based on age and personal and family history of cancer, the NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian Cancer endorse genetic screening for TP53 mutations in a subset of patients with early-onset breast cancer, even in the absence of a suggestive family history, because of the potential for de novo TP53 mutations.
authors.affiliation: Department of Medicine, Stanford University, Stanford, California, USA. eve.henry@gmail.com
authors.forename: Eve
authors.initials: E
authors.lastname: Henry
authors.forename: Victor
authors.initials: V
authors.lastname: Villalobos
authors.forename: Lynn
authors.initials: L
authors.lastname: Million
authors.forename: Kristin C
authors.initials: KC
authors.lastname: Jensen
authors.forename: Robert
authors.initials: R
authors.lastname: West
authors.forename: Kristen
authors.initials: K
authors.lastname: Ganjoo
authors.forename: Alexandra
authors.initials: A
authors.lastname: Lebensohn
authors.forename: James M
authors.initials: JM
authors.lastname: Ford
authors.forename: Melinda L
authors.initials: ML
authors.lastname: Telli
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000473:pathology / Q000628:therapy*; D018270:Carcinoma, Ductal, Breast / Q000473:pathology / Q000628:therapy*; D003131:Combined Modality Therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007890:Leiomyosarcoma / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D016864:Li-Fraumeni Syndrome / Q000150:complications / Q000235:genetics*; D015412:Mastectomy, Segmental / Q000009:adverse effects; D009367:Neoplasm Staging; D009381:Neoplasms, Radiation-Induced / Q000209:etiology / Q000473:pathology / Q000628:therapy; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000628:therapy; D010375:Pedigree; D017785:Photons / Q000009:adverse effects; D011183:Postoperative Complications; D011379:Prognosis; D013899:Thoracic Neoplasms / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D035441:Thoracic Wall / Q000473:pathology*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D055815:Young Adult
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53