Tumores ginecológicos en pacientes portadoras de mutación BRCA1 y BRCA2 / Gynaecological tumours in patients with BRCA1 and BRCA2 mutations

OBJETIVO: Analizar la incidencia de cáncer de mama y de ovario, y las características de dichos tumores en pacientes portadoras de mutaciones BRCA1-2. PACIENTES Y MÉTODOS: Estudio observacional retrospectivo que incluye un total de 111 pacientes con diagnóstico molecular de mutación en genes BRCA1 (56) o BRCA2 (55). RESULTADOS: En el 69,4% de los casos el test genético se realizó tras el diagnóstico oncológico. La incidencia objetivada de cáncer de mama y ovario fue, respectivamente, del 62,2 y el 20,7%. El tipo histológico más frecuente de cáncer de mama fue el ductal infiltrante (89,7%). El 67,7% de los tumores mamarios BRCA1 presentaron un fenotipo triple negativo y el 80% de los BRCA2 mostraron un fenotipo luminal, siendo la diferencia estadísticamente significativa. El 87% de los cánceres de ovario fueron carcinomas serosos de alto grado. El 41,4% de las pacientes se realizó mastectomía profiláctica encontrándose de forma casual lesiones patológicas en el 19,5% de las piezas quirúrgicas. El 41,4% se realizó salpingooforectomía bilateral profiláctica, en cuyas piezas quirúrgicas objetivaron un 6,5% de lesiones patológicas. CONCLUSIONES: La incidencia de cáncer de mama/ovario en las pacientes portadoras de BRCA 1-2 estudiadas es superior a la descrita en la población general, desarrollándose a edades más tempranas. No obstante, el diagnóstico genético de la mutación es, en la mayoría de los casos, secundario al del evento oncológico. Se debe incidir en el diagnóstico precoz de la mutación basado en los antecedentes familiares para instaurar precozmente medidas de cribado y de reducción de riesgo

OBJECTIVE: To analyse the incidence of breast and ovarian cancer, and the characteristics of these tumours, in patients with BRCA1-2 mutations. PATIENTS AND METHODS: Retrospective observational study that included a total of 111 patients with a molecular diagnosis of mutation in BRCA1 (56) and / or BRCA2 (55) genes. RESULTS: In 69.4% of the cases, genetic testing was performed after oncological diagnosis. The incidence of breast and ovarian cancer was 62.2% and 20.7%, respectively. The most frequent histological type of breast cancer was infiltrating ductal (89.7%). A total of 67.7% of breast tumours in BRCA1 patients had a triple negative phenotype and 80% of BRCA2 patients showed a luminal phenotype. Most (87%) ovarian cancers were high grade serous carcinomas. In 41.4% of the patients, prophylactic mastectomy was performed, with a coincidental pathological finding in 19.5% of the surgical specimens. In 41.4% of the patients, prophylactic bilateral salpingo-oophorectomy was performed, with 6.5% of surgical specimens showing pathological lesions. CONCLUSIONS: The incidence of breast/ovarian cancer in patients harbouring BRCA 1-2 mutations is higher than in the general population, and the cancer develops in younger patients. However, the genetic diagnosis of the mutation is usually secondary to that of the oncological event. The early diagnosis of the mutation based on family history should be emphasised in order to initiate early screening and risk-reduction measures

Psoas haematoma as a complication of Veress needle insertion: description of a case and literature review.

BACKGROUND: In terms of gynaecological laparoscopic surgery, major complications affecting great vessels, and especially the retroperitoneal ones, are unusual. CASE PRESENTATION: We introduce a case of a retroperitoneal haematoma associated with psoas muscle pseudoaneurysm, as a side effect of Veress needle insertion, during laparoscopic surgery. Such complication was managed conservatively at first, requiring finally arterial embolisation. CONCLUSION: Even though potential complications associated with laparoscopic surgery are infrequent, they must not be underestimated, and in some cases might need a multidisciplinary management.