RESUMEN
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.
Asunto(s)
Anticipación Genética , Carcinoma de Células Pequeñas/genética , Neoplasias Ováricas/genética , Dolor Abdominal/etiología , Adulto , Edad de Inicio , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bleomicina/administración & dosificación , Carcinoma de Células Pequeñas/sangre , Carcinoma de Células Pequeñas/tratamiento farmacológico , Carcinoma de Células Pequeñas/epidemiología , Carcinoma de Células Pequeñas/radioterapia , Carcinoma de Células Pequeñas/cirugía , Quimioterapia Adyuvante , Niño , Cisplatino/administración & dosificación , Terapia Combinada , Enfermedades en Gemelos , Etopósido/administración & dosificación , Salud de la Familia , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Hipercalcemia/etiología , Incidencia , Menopausia Prematura , Neoplasias Ováricas/sangre , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/radioterapia , Neoplasias Ováricas/cirugía , Ovariectomía , Linaje , Radioterapia Adyuvante , Inducción de RemisiónAsunto(s)
Adenocarcinoma/complicaciones , Neoplasias de la Mama Masculina/complicaciones , Fármacos para la Fertilidad Femenina/uso terapéutico , Genes BRCA2 , Leuprolida/uso terapéutico , Neoplasias de la Próstata/tratamiento farmacológico , Adenocarcinoma/genética , Anciano de 80 o más Años , Neoplasias de la Mama Masculina/genética , Humanos , Masculino , Mutación , Neoplasias de la Próstata/complicacionesRESUMEN
BACKGROUND: Determination of BRCA1 and 2 mutation carrier status is important. Although BRCA carriers are offered bilateral mastectomy and oophorectomy, most who test negative decline. Some women choose contralateral prophylactic mastectomy (CPM) at the time of their breast cancer diagnosis despite testing negative. METHODS: A total of 110 women with breast cancer received genetic testing before surgical treatment. Patient demographics, tumor characteristics, surgical treatment, and magnetic resonance imaging use were recorded. RESULTS: Results revealed BRCA1/2 mutation in 33%, variant of unknown significance in 6%, and no mutation in 61% of women. In BRCA-negative women, 37% chose CPM. Marital status was significant for CPM (P = .03). Race, age, stage of presentation, and biomarker status were not associated with choice of CPM. Ninety-six percent of CPM recipients underwent breast reconstruction. Magnetic resonance imaging use did not affect CPM rates (P = .99). CONCLUSIONS: Increased rates of CPM have been observed. In our study married women were more likely to choose CPM. We recommend genetic genotyping before surgery. These findings warrant further investigation.