title: Familial small cell carcinoma of the ovary.
abstract: Ovarian tumors have a low incidence in childhood, accounting for 1% of malignancies within the ages of 0-17 years. Small cell carcinoma of the ovary is a rare histology and historically has a poor prognosis. We report a case of an 11-year-old female diagnosed with small cell carcinoma of the ovary and hypercalcemia (SCCOHT). There was a strong family history of the disease, a reduction in the age of onset in the proband, and the absence of BRCA mutations. This case suggests the phenomenon of genetic anticipation in an ovarian cancer.
authors.affiliation: Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA.
authors.forename: Anibal R
authors.initials: AR
authors.lastname: Martinez-Borges
authors.forename: John K
authors.initials: JK
authors.lastname: Petty
authors.forename: Gail
authors.initials: G
authors.lastname: Hurt
authors.forename: Jennifer T
authors.initials: JT
authors.lastname: Stribling
authors.forename: Joshua Z
authors.initials: JZ
authors.lastname: Press
authors.forename: Sharon M
authors.initials: SM
authors.lastname: Castellino
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D017668:Age of Onset; D020132:Anticipation, Genetic; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage / Q000627:therapeutic use; D001761:Bleomycin / Q000008:administration & dosage; D018288:Carcinoma, Small Cell / Q000097:blood / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics* / Q000532:radiotherapy / Q000601:surgery; D017024:Chemotherapy, Adjuvant; D002648:Child; D002945:Cisplatin / Q000008:administration & dosage; D003131:Combined Modality Therapy; D004200:Diseases in Twins; D005047:Etoposide / Q000008:administration & dosage; D005192:Family Health; D005260:Female; D020249:Hormone Replacement Therapy; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology; D015994:Incidence; D008594:Menopause, Premature; D010051:Ovarian Neoplasms / Q000097:blood / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics* / Q000532:radiotherapy / Q000601:surgery; D010052:Ovariectomy; D010375:Pedigree; D018714:Radiotherapy, Adjuvant; D012074:Remission Induction
chemical_list: D001761:Bleomycin; D005047:Etoposide; D002945:Cisplatin