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.

Implicaciones de la biopsia selectiva de ganglio centinela en cadena mamaria interna sobre la radioterapia adyuvante en mujeres con cáncer de mama sin invasión axilar / Role of internal mammary sentinel lymph node biopsy in adjuvant radiotherapy in women with breast cancer without axillary involvement

Objetivo: Determinar la implicación de la biopsia selectiva de ganglio centinela (BSGC) a nivel de la cadena mamaria interna (CMI) en la radioterapia (RT) adyuvante cuando no se realiza BSGC a nivel axilar en pacientes con cáncer de mama. Pacientes y métodos: Se realizó un estudio analítico retrospectivo seleccionando pacientes con cáncer de mama en estadios precoces diagnosticado entre enero de 2008 y diciembre de 2016. Se incluyeron únicamente aquellas pacientes con indicación de BSGC y migración exclusiva del radiotrazador a CMI. Se recogieron las características clínicas de las pacientes y anatomopatológicas del tumor, el tratamiento quirúrgico, el tratamiento adyuvante, la recurrencia locorregional y la supervivencia global. Resultados: Se diagnosticaron un total de 2.622 carcinomas infiltrantes de mama. Se documentó drenaje exclusivo a CMI en 23 pacientes (2,2%). En el 65,2% (15/23) se localizó el ganglio centinela en CMI y se extrajeron una media de 1,61 ganglios. Se administró RT adyuvante sobre CMI en el 75% de las pacientes que recibieron RT sobre cadenas ganglionares. Se administró quimioterapia en el 52,2% (12/23) y hormonoterapia en el 87% (20/23) de las pacientes. Se encontró asociación estadísticamente significativa entre la localización del ganglio centinela y la RT sobre la CMI (p<0,003) y también entre el resultado del ganglio centinela y la RT a este nivel (p<0,006). Una de las pacientes presentó una recidiva mamaria y otra tuvo metástasis óseas. La mediana de seguimiento fue de 60 meses. No se notificó ningún fallecimiento. Conclusiones: Tanto el éxito en la localización del ganglio como el resultado de la biopsia en CMI modifican de manera significativa la RT a este nivel

Objective: To determine the role of internal mammary sentinel lymph node (IM-SLN) biopsy in adjuvant radiotherapy in female patients with early-stage breast cancer when axillary lymph node biopsy is not performed. Patients and methods: Retrospective cohort study of female patients with early-stage breast cancer diagnosed between January 2008 and December 2016. Only patients with an indication for SLN biopsy and migration of the radiotracer into the internal mammary nodes were included. Data were recorded and analysed on the patients' clinical features, tumour histology, surgical treatment, adjuvant treatment, locoregional recurrence and overall survival. Results: A total of 2,622 invasive breast carcinomas were diagnosed. Twenty-three (2.2%) patients had exclusive drainage to the internal mammary nodes. IM-SLN was detected in 65.2% (15/23) of patients, with a mean of 1.61 nodes harvested per patient. Seventy-five per cent of patients receiving adjuvant radiation therapy received it on the internal mammary chain. Chemotherapy and endocrine therapy were administered to 52.2% (12/23) and 87% (20/23) of patients, respectively. A statistically significant association was found between IM-SLN identification and radiotherapy to the internal mammary chain (P<.003), as well as between IM-SLN involvement and radiotherapy to the internal mammary chain (P<.006). One patient developed breast cancer recurrence and another patient developed bone metastases. The median follow-up was 60 months. No deaths were reported. Conclusions: Both IM-SLN identification and involvement modify the rate of radiotherapy to the internal mammary chain in patients with early-stage breast cancer

Retraso del crecimiento intrauterino de causa genética: síndrome de Wolf-Hirschhorn / Intrauterine growth retardation of genetic cause: Wolf-Hirschhorn syndrome

El síndrome de Wolf-Hirschhorn es una enfermedad genética rara provocada por la pérdida de material genético en el brazo corto del cromosoma 4. Los individuos afectos presentan un fenotipo característico con apariencia de 'casco de guerrero griego', retraso en el desarrollo y epilepsia. El pronóstico es desfavorable lo que condiciona la importancia de su detección prenatal. Presentamos un caso de síndrome de Wolf-Hirschhorn diagnosticado postnatalmente que en el período prenatal únicamente mostraba un retraso del crecimiento intrauterino severo y polihidramnios. El estudio genético, solicitado de manera urgente a las 33 semanas, señaló un cariotipo 46 XX normal. Destacamos la importancia del estudio genético molecular durante el período prenatal en los casos de retraso del crecimiento intrauterino severo, en los que se sospeche una cromosomopatía, de cara a confirmar el diagnóstico, establecer el pronóstico y realizar consejo genético a los progenitores (AU)

The Wolf-Hirschhorn syndrome is a rare genetic disease caused by the loss of genetic material in the short arm of chromosome 4. The affected individuals have a characteristic 'Greek warrior helmet'-like phenotype, a delay in the development and epilepsy. The prognosis is poor, which determines the importance of prenatal screening. We present a case of postnatally diagnosed Wolf-Hirschhorn syndrome, which during the prenatal period just showed a severe intrauterine growth restriction and polyhydramnios. The requested genetic study, performed urgently at 33 weeks, seemed to show a normal 46, XX karyotype. We stress the importance of the molecular genetic study during the prenatal period in severe intrauterine growth restriction cases where the existence of a genetic disease is suspected, in order to confirm the diagnosis, establish the prognosis and provide parents with genetic counseling (AU)

Therapeutic attitude towards internal mammary chain drainage in patients with breast cancer.

Internal mammary chain (IMC) is one of the main local lymph drainages in breast cancer. However, internal mammary chain sentinel lymph node biopsy (IMC-SLNB) is not always performed. The purpose of this research is to evaluate the outcomes of IMC-SLNB in our institution from 2008 to 2014. We analyzed 1346 women with breast cancer. Six-hundred twenty-two sentinel node biopsies were carried out, one out of ten in IMC territory. Adjuvant radiotherapy in this area was added when positive. IMC-SLNB is feasible, it may change tumour stage, modify adjuvant therapy and change prognosis in selected patients.

[A case study of anaphylaxis in a pregnant woman]. / Choque anafiláctico en una gestante en el tercer trimestre de embarazo.

We report a case of anaphylaxis in a 35+5 week of pregnancy patient who came to the Emergency Room with shortness of breath, hypotension and loss on fetal wellbeing. Due to her medical history and given the clinical picture at that time, an anaphylactic shock was suggested as the most probable diagnose. The administration of dexchlorpheniramine and methylprednisolone resulted in an immediate and positive reaction. Simultaneously, an improvement in the fetus cardiotocographic record was objectified. The patient was hospitalized for 48 hours, after which she was discharged. In case of suspicion of anaphylaxis in a pregnant woman, four aspects should be handled: the severity of the anaphylaxis chart, individual complications regarding a pregnant woman, unfavorable effects of the regularly used treatment during that specific gestation, and the need of fetal extraction based of gestational age.