RESUMEN
Resumen ANTECEDENTES: Los tumores malignos de células germinales de ovario constituyen un grupo heterogéneo de neoplasias de rápida evolución a la malignización, que suelen aparecer durante las dos primeras décadas de la vida. La prevalencia en México es de 3.4% de los tumores ováricos. El 10% de las pacientes afectadas padece dolor abdominal agudo por distención capsular, necrosis, hemorragia, rotura o torsión. CASO CLÍNICO: Paciente de 17 años, acudió al servicio de Urgencias por dolor pélvico de inicio súbito. En la laparotomía se encontró una torsión ovárica secundaria a una tumoración anexial derecha; por eso se le efectuó la salpingooferectomía. Se detectó elevada concentración de alfa-fetoproteína (10,702 ng/mL); el servicio de Oncología pediátrica indicó quimioterapia durante dos años; sin embargo, después de suspender el tratamiento persistió elevada su concentración. El ultrasonido y PET-SCAN no evidenciaron enfermedad activa. En la laparoscopia diagnóstica se observaron múltiples implantes tumorales. El reporte histopatológico fue de tumoración de senos endodérmicos. La paciente se envió, nuevamente, a Oncología pediátrica para continuar con quimioterapia y radioterapia. En la actualidad permanece estable, con descenso de la concentración de alfa-fetoproteína (última determinación: 1200 ng/mL). CONCLUSIÓN: La importancia de la laparoscopia toma relevancia en este tipo de casos, cuando existe discordancia entre los estudios bioquímicos y de imagen (ultrasonido y PET-SCAN); además, orienta hacia un diagnóstico más certero, mediante la visualización y obtención de biopsias directas, con la finalidad de establecer el tratamiento específico.
Abstract BACKGROUND: Malignant germ cell tumors of the ovary constitute a heterogeneous group of highly malignant and rapidly progressive neoplasms that usually appear during the first two decades of life. Its frequency in Mexico is 3.4% on ovarian tumors. Approximately 10% of affected patients report acute abdominal pain due to capsular distension, necrosis, hemorrhage, rupture or torsion. CLINICAL CASE: A 17 years-old patient, who went to the Emergency Department for pelvic pain of sudden onset. It was decided to perform a laparotomy and ovarian torsion was found secondary to a right adnexal tumor, so salpingo-ophorectomy was performed. High alpha-fetoprotein concentration (10.702 ng/mL) was detected; the Pediatric Oncology Service indicated chemotherapy for two years; however, after stopping the treatment, its concentration persisted. The ultrasound and PET-SCAN did not show active disease, so it was sent to the gynecological endoscopy service, where they performed diagnostic laparoscopy, observing multiple tumor implants. The histopathological results was endodermal sinus tumor. The patient was sent, again, to Pediatric Oncology to continue with chemotherapy and radiotherapy. It is currently stable, with a decrease in values of alpha-fetoprotein (last determination: 1200 ng/mL). CONCLUSION: The importance of diagnostic laparoscopy is especially relevant in this type of cases when there is disagreement between biochemical and imaging studies (ultrasound and PET-SCAN), which through laparoscopy guides us towards a more accurate diagnosis through visualization and direct biopsy taking sample and give a directed management.
RESUMEN
Gynecologic cancers are among the leading causes of death worldwide, ovarian cancer being the one with the highest mortality rate. Olaparib is a targeted therapy used in patients presenting mutations in BRCA1 and BRCA2 genes. The aim of this study was to describe BRCA1 and BRCA2 gene variants in Mexican patients with ovarian cancer. Sequencing of BRCA1 and BRCA2 genes from tumors of 50 Mexican patients with ovarian cancer was made in a retrospective, non-randomized, and exploratory study. We found genetic variants in 48 of 50 cases. A total of 76 polymorphic variants were found in BRCA1, of which 50 (66%) had not been previously reported. Furthermore, 104 polymorphic variants were found in BRCA2, of which 63 (60%) had not been reported previously. Of these polymorphisms, 5/76 (6.6%) and 4/104 (3.8%) were classified as pathogenic in BRCA1 and BRCA2, respectively. We have described the genetic variants in BRCA1 and BRCA2 of tumors from Northeast Mexican patients with sporadic ovarian cancers. Our results showed that the use of genetic testing helps recognize patients that carry pathogenic variants which could be beneficial for personalized medicine treatments.