title: Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.
abstract: Synchronous bilateral breast carcinoma (SBBC) and early onset are important characteristics of hereditary cases. The lifetime risk for breast carcinoma in Cowden syndrome (CS) is estimated to be 25-50%. We reported a 44-year-old woman presenting SBBC and characteristic mucocutaneous lesions of CS, confirmed by PTEN gene mutation analysis. Bilateral modified mastectomy and axillary dissection were performed. Histopathologic examination revealed a moderate-differentiated invasive ductal carcinoma with mixed features of luminal A immunophenotype (Estrogen and/or Progesterone Receptors >50% and/or Ki67 < 30% of positive cells). The skin lesions showed the characteristic findings of tricholemmoma. Lack of PTEN expression was observed in all specimens. Sequencing analysis confirmed the presence of PTEN splice-acceptor site mutation in intron 8 (c.1027-2A>G), a germline mutation which had not been previously reported in CS. The patient received adjuvant chemotherapy and tamoxifen for 5 years. After 5 years of follow-up, she persists recurrence-free. SBBC with early onset suggests a hereditary predisposition. Thus, analysis of PTEN expression abnormality, easily assessed by immunohistochemistry, may be of clinical value to screen those patients with CS.
authors.affiliation: Research Unit, Hospital General Univrsitari d'Alacant, Alacant, Spain. peiro_glo@gva.es
authors.forename: Gloria
authors.initials: G
authors.lastname: Peiró
authors.forename: Encarna
authors.initials: E
authors.lastname: Adrover
authors.forename: Jaime
authors.initials: J
authors.lastname: Guijarro
authors.forename: Irene
authors.initials: I
authors.lastname: Ballester
authors.forename: M José
authors.initials: MJ
authors.lastname: Jimenez
authors.forename: María
authors.initials: M
authors.lastname: Planelles
authors.forename: Lluis
authors.initials: L
authors.lastname: Catasús
mesh_terms: D000328:Adult; D001365:Axilla; D001707:Biopsy, Needle; D001943:Breast Neoplasms / Q000188:drug therapy / Q000473:pathology* / Q000601:surgery; D016504:Breast Self-Examination; D018270:Carcinoma, Ductal, Breast / Q000188:drug therapy / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D017024:Chemotherapy, Adjuvant; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis*; D006801:Humans; D007150:Immunohistochemistry; D008197:Lymph Node Excision / Q000379:methods*; D008198:Lymph Nodes / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008327:Mammography / Q000379:methods; D008408:Mastectomy / Q000379:methods*; D009367:Neoplasm Staging; D009378:Neoplasms, Multiple Primary / Q000188:drug therapy / Q000473:pathology* / Q000601:surgery; D016896:Treatment Outcome