title: Synchronous bilateral breast carcinoma in a 50-year-old man with 45,X/46,XY mosaic karyotype: report of a case.
abstract: We report a case of synchronous bilateral breast cancer in a patient with ambiguous external genitalia attributed to a 45,X/46,XY mosaicism. To our knowledge, this represents the first such case ever to be reported. Mammography, ultrasonography, computed tomography, and magnetic resonance imaging all showed bilateral suspicious breast masses with microcalcifications. There were no radiological findings of muscle invasion or axillary lymphadenopathy. The patient was successfully treated by bilateral radical modified mastectomy followed by external irradiation and adjuvant endocrine therapy. Histological examination revealed a bilateral ductal carcinoma in situ, with a cribriform and papillary pattern and microfoci of infiltrating ductal carcinoma. The hormonal profile revealed high levels of follicle-stimulating hormone and luteinizing hormone, and low levels of testosterone. Testicular sonography revealed small hypoechoic testicles with bilateral microlithiasis. This case shows that 45,X/46,XY men may have an increased risk of breast cancer and must be followed up carefully.
authors.affiliation: Department of Surgery, Catholic University School of Medicine, Policlinico Agostino Gemelli, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Franceschini
authors.forename: Pierfrancesco
authors.initials: P
authors.lastname: D'Alba
authors.forename: Melania
authors.initials: M
authors.lastname: Costantini
authors.forename: Andrea
authors.initials: A
authors.lastname: Magistrelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Belli
authors.forename: Antonino
authors.initials: A
authors.lastname: Mulè
authors.forename: Claudio
authors.initials: C
authors.lastname: Coco
authors.forename: Aurelio
authors.initials: A
authors.lastname: Picciocchi
mesh_terms: D018567:Breast Neoplasms, Male / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000601:surgery; D002278:Carcinoma in Situ; D018270:Carcinoma, Ductal, Breast / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D008297:Male; D015411:Mastectomy, Modified Radical; D008875:Middle Aged; D009030:Mosaicism; D009634:Noonan Syndrome / Q000150:complications / Q000235:genetics