Oncological outcomes among young women with non-epithelial ovarian cancer: the YOC-Care study (Young Ovarian Cancer - Care).

OBJECTIVE: To determine oncological outcomes and associated prognostic factors in women younger than 45 years diagnosed with non-epithelial ovarian cancer. METHODS: A retrospective, multicenter Spanish study was performed including women with non-epithelial ovarian cancer younger than 45 years between January 2010 and December 2019. All types of treatments and stages at diagnosis with at least 12 months of follow-up were collected. Women with missing data, epithelial cancers, borderline or Krukenberg tumors, and benign histology, as well as patients with previous or concomitant cancer, were excluded. RESULTS: A total of 150 patients were included in this study. The mean±SD age was 31.45±7.45 years. Histology subtypes were divided into germ cell (n=104, 69.3%), sex-cord (n=41, 27.3%), and other stromal tumors (n=5, 3.3%). Median follow-up time was 58.6 (range: 31.10-81.91) months. Nineteen (12.6%) patients presented with recurrent disease with a median time to recurrence of 19 (range: 6-76) months. Progression-free survival and overall survival did not significantly differ among histology subtypes (p=0.09 and 0.26, respectively) and International Federation of Gynecology and Obstetrics (FIGO) stage (I-II vs III-IV) with p=0.08 and p=0.67, respectively. Univariate analysis identified sex-cord histology with the lowest progression-free survival. Multivariate analysis showed that body mass index (BMI) (HR=1.01; 95% CI 1.00 to 1.01) and sex-cord histology (HR=3.6; 95% CI 1.17 to 10.9) remained important independent prognostic factors for progression-free survival. Independent prognostic factors for overall survival were BMI (HR=1.01; 95% CI 1.00 to 1.01) and residual disease (HR=7.16; 95% CI 1.39 to 36.97). CONCLUSIONS: Our study showed that BMI, residual disease, and sex-cord histology were prognostic factors associated with worse oncological outcomes in women younger than 45 years diagnosed with non-epithelial ovarian cancers. Even though the identification of prognostic factors is relevant to identify high-risk patients and guide adjuvant treatment, larger studies with international collaboration are essential to clarify oncological risk factors in this rare disease.

Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review.

Early onset Marfan syndrome is the most severe form of Marfan syndrome diagnosed during perinatal period. Early onset Marfan syndrome is associated with high mortality rates, usually within the first 2 years of life. First, we present a case of prenatally diagnosed early onset Marfan syndrome in a dichorionic diamniotic twin pregnancy, where suspicion was raised at 35 weeks of gestation. Ultrasound and fetal magnetic resonance imaging were used to assess prenatal findings in the affected fetus. She presented right diaphragmatic eventration, elongation of humerus and femur and subluxation of the crystalline lens. She died 3 months after birth. Secondly, we present a PubMed-based review of the published articles on early onset Marfan syndrome, with pre- or postnatal suspicion or diagnosis. We found 39 articles published between 1981 and 2017, arising information on 55 cases. Including ours, early onset Marfan syndrome was prenatally diagnosed in 34.54% of the cases. In these cases, the most frequent prenatal findings were cardiomegaly, dilatation of the great vessels and mitral or tricuspid regurgitation. Mortality rate during the first 15 months after birth was 73.68%. In the postnatally diagnosed cases, the most frequent findings were arachnodactyly, dilatation of the great vessels and mitral or tricuspid regurgitation. Mortality rate was 61.11%. Overall genetic confirmation was performed in 67.27% of the cases. Prenatal diagnosis of early onset Marfan syndrome is challenging but of utmost importance, since management should take place in a tertiary care center, by a multidisciplinary team. Differential diagnosis is essential in order to perform an adequate genetic counseling.

Salpingooforectomía bilateral profiláctica en pacientes con BRCA1 o BRCA2 / Prophylactic bilateral salpingo-oophorectomy in patients with BRCA1 or BRCA2

Resumen OBJETIVO: Determinar la prevalencia, factores clínicos o epidemiológicos de cáncer oculto en pacientes BRCA1 o BRCA2 operadas para salpingooforectomía bilateral profiláctica. Evaluar las complicaciones quirúrgicas en las cirugías laparoscópicas. MATERIALES Y MÉTODOS: Estudio observacional, retrospectivo, llevado a cabo en el Hospital Gregorio Marañón entre 2012 y 2018. Se revisaron las salpingooforectomías bilaterales profilácticas practicadas a pacientes con mutaciones confirmadas BRCA1 o 2, no diagnosticadas previamente de cáncer de ovario o trompa. Las principales variables analizadas fueron: antecedentes familiares, edad, índice de masa corporal, hábito tabáquico, mutación genética, cirugías abdominales previas, cáncer de mama, fecha de la cirugía, tiempo quirúrgico, tipo de cirugía, técnica de entrada a la cavidad abdominal y complicaciones quirúrgicas. El análisis estadístico se efectuó con SPSS 17.0. RESULTADOS: Se estudiaron 59 pacientes. La prevalencia de cáncer oculto fue 5 de 59. La edad media de las pacientes con diagnóstico de cáncer oculto en el momento de la cirugía fue 47.8 años. Se encontró antecedente de cáncer de mama en 43 de las 59 pacientes; en este subgrupo se encontró cáncer oculto en 2 pacientes. En el subgrupo sin antecedente de cáncer de mama, la frecuencia fue 3 de 16. No se encontraron diferencias estadísticamente significativas entre ambos grupos (p = 0.118). Todas las pacientes a quienes se diagnosticó cáncer oculto, salvo una, eran fumadoras. La tasa de complicaciones intraoperatorias fue 2 de 51 y 1 de 51 las postoperatorias CONCLUSIONES: Las pacientes con BRCA1 o BRCA2 son un grupo de alto riesgo oncológico que requiere seguimiento y asesoramiento específicos en unidades especializadas de hospitales de tercer nivel de atención.

Abstract OBJECTIVE: To determine the prevalence of occult cancer in BRCA1 and/or BRCA2 patients undergoing prophylactic bilateral salpingo-oophorectomy. To determine associated clinical or epidemiological factors. To evaluate surgical complications in surgeries performed via laparoscopy. MATERIAL AND METHODS: Retrospective observational study conducted at the Gregorio Marañón hospital between 2012 and 2018. Review of prophylactic bilateral salpingo-oophorectomies performed in patients with confirmed BRCA1 and/or 2 mutations and not previously diagnosed with ovarian and/or fallopian cancer. Main variables: family history, age, body mass index, smoking habit, genetic mutation, previous abdominal surgeries, breast cancer, surgery date, surgical time, type of surgery, technique of the entrance to the abdominal cavity, surgical complications. The statistical analysis was performed using SPSS 17.0. RESULTS: 59 patients were included. The prevalence of occult cancer was 5/59. The average age (at the time of surgery) of patients diagnosed with occult cancer was 47.8 years. 43/59 had a history of breast cancer; in this group occult cancer was found in two patients. In the group with no history of breast cancer, frequency of occult cancer was 3/16. No statistically significant differences were found between both groups (p = 0.118). All patients diagnosed with occult cancer, except one, were smokers. The rate of intraoperative complications was 2/51 and 1/51 postoperative. CONCLUSIONS: Patients with BRCA1 and/or BRCA2 mutations are a group of high cancer risk that require specific monitoring and advice in specialized units of third level hospitals.