Portadoras de mutaciones en BRCA1 y 2 en familias de alto riesgo del área de Ciudad Real (España): prevalencia mutacional y características clínico-patológicas del cáncer de mama y ovario / Carriers of BRCA1 and 2 mutations in high-risk families from Ciudad Real (Spain): mutational prevalence and clinical-pathological characteristics of breast and ovarian cancer

Objetivo: Determinar la prevalencia mutacional en BRCA1 y 2 de mujeres afectas por cáncer de mama/ovario en el área de Ciudad Real y describir las características clinicopatológicas de dichas neoplasias. Pacientes y métodos: Estudio descriptivo. Se evaluaron 111 pacientes de familias de alto riesgo y se analizaron los antecedentes oncológicos, familiares y las mutaciones halladas en BRCA1 y 2. Resultados: La prevalencia de mutaciones patogénicas en BRCA fue del 21,6% (16 en BRCA2 y 8 en BRCA1). En las portadoras de mutaciones en BRCA1 predominó el cáncer de mama: 10 casos (90,9%), tipo ductal infiltrante: 8 (72,7%), estadioII: 6 (54,5%), luminalA: 4 (36,4%), triple negativo: 4 (36,4%) y grado histológico2: 3 (27,3%) y3: 3 (27,3%). Las portadoras de mutaciones en BRCA2 desarrollaron cáncer de mama en 16 casos (80%), tipo ductal infiltrante: 11 (55%), estadioII: 11 (55%), luminalA: 10 (50%) y grado histológico2: 5 (25%). Conclusiones: En nuestro análisis, la prevalencia de mutaciones en BRCA2 fue superior a la registrada en BRCA1, en correspondencia con algunos estudios previos nacionales. Las características clinicopatológicas de los cánceres de mama/ovario en las portadoras de estas mutaciones fueron similares al perfil descrito en la literatura

Objective: To determine the mutational prevalence in BRCA1 and 2 among women with breast/ovarian cancer in Ciudad Real and to describe the clinical-pathological characteristics of these neoplasms. Patients and methods: Descriptive study. A total of 111 patients from high-risk families were evaluated and the oncological history, family history, and BRCA1 and 2 mutations found were analysed. Results: The prevalence of pathogenic mutations in BRCA was 21.6% (16 in BRCA2 and 8 in BRCA1). In BRCA1 mutations, breast cancer was predominant: 10 cases (90.9%), infiltrating ductal type: 8 (72.7%), stageII: 6 (54.5%), luminalA: 4 (36.4%), triple negative: 4 (36.4%) and histological grade2: 3 (27.3%) and3: 3 (27.3%). Among BRCA2 mutation carriers, 16 (80%) developed breast cancer: infiltrating ductal type: 11 (55%), stageII: 11 (55%), luminalA: 50% (10) and histological grade2: 5 (25%). Conclusions: In our analysis, the prevalence of mutations was higher in BRCA2 than in BRCA1, in agreement with some previous national studies. The clinical-pathological characteristics of breast/ovarian cancer in the carriers of these mutations were similar to the profile described in the literature

[A randomized controlled trial of preoperative oral immunonutrition in patients undergoing surgery for colorectal cancer: hospital stay and health care costs]. / Estudio prospectivo y randomizado sobre inmunonutrición oral preoperatoria en pacientes intervenidos por cáncer colorrectal: estancia hospitalaria y costos sanitarios.

BACKGROUND: The use of enteral formulas with immunonutrients in patients with gastrointestinal malignancies susceptible to surgery can reduce postoperative morbidity, at the expense of reduced infectious complications, with the consequent reduction in hospital stay and health care costs. MATERIAL AND METHODS: Prospective randomized study. 84 patients operated on a scheduled basis for resectable colorectal cancer were recruited. In the group YES IN Impact © Oral was administered for 8 days (3 sachets a day), compared with the NOT IN group who did not receive it. RESULTS: 40.5% (17) patients without immunonutrition suffered infectious complications vs. 33.3% (14) of YES IN. In patients with rectal cancer NOT IN, 50% (8) suffered minor infectious complications (p=.028). In each group (YES IN, NOT IN, colon and rectal cancer) when infectious complications were observed, the variables total hospital stay and costs doubled, with significant differences. These variables showed higher values in the group NOT IN compared with those who received immunonutrition, although these differences were not statistically significant. CONCLUSIONS: NOT IN patients suffered infectious complications more frequently than YES IN, with significant results in the subgroup of patients with rectal cancer. The total hospital stay and costs were slightly higher in the group not supplemented, doubling in each category significantly (YES IN, NOT IN, colon and rectal cancer), when infectious complications were observed.

[Amyand's hernia: a report of two cases and review of the bibliography]. / Hernia de Amyand: presentación de dos casos y revisión de la bibliografía.

BACKGROUND: Presence of the vermiform appendix in an inguinal hernia sac is an uncommon finding (1%), exceptionally rare if it's inflamed (0.13%). Clinically simulating incarcerated inguinal hernia and proper preoperative diagnosis is exceptional. We present two unusual cases of Amyand's hernia, and review of the bibliography. CLINICAL CASES: 1. Male patient 78 year old with an incarcerated right inguinal hernia which was performed preoperatively the diagnosis of Amyand's hernia by abdominal Computed Tomography. Clinical case 2. Female patient 82 year old with symptoms of an incarcerated right femoral hernia that finally showed an Amyand's hernia through a right inguinal hernia. CONCLUSIONS: Amyand's hernia is a rare entity whose preoperative diagnosis is uncommon, that it should always be considered in the differential diagnosis in cases with clinical signs of incarcerated right inguinal hernia.

Antecedentes: encontrar el apéndice vermiforme en un saco herniario inguinal es un hallazgo infrecuente (1%), excepcionalmente raro si está inflamado (0.13%). Clínicamente simula una hernia inguinal incarcerada y el diagnóstico preoperatorio adecuado se establece en contadas excepciones. Se reportan dos casos excepcionales de hernias de Amyand y se revisa la bibliografía. Casos clínicos: 1. Paciente masculino de 78 años con una hernia inguinal derecha, incarcerada, en el que el diagnóstico de hernia de Amyand se estableció antes de la cirugía mediante tomografía computada abdominal. Caso clínico 2. Paciente femenina de 82 años de edad, con clínica de hernia crural derecha incarcerada con una hernia de Amyand a través de una hernia inguinal derecha. Conclusiones: la hernia de Amyand es una rara enfermedad cuyo diagnóstico preoperatorio es infrecuente y que siempre debe considerarse en el diagnóstico diferencial en los casos con signos clínicos de hernia inguinal derecha incarcerada.

Endometriosis de localización extraovárica. Nuestra casuística en 10 años / Extraovarian endometriosis. Our 10-year casuistics

Introducción. La endometriosis es una enfermedad ginecológica cuya prevalencia oscila alrededor del 5-10% de las mujeres. La localización es pélvica en la mayoría de los casos; sin embargo, en un pequeño grupo de pacientes, puede presentarse en regiones diferentes de esta. Material y métodos. Estudio descriptivo, observacional y retrospectivo de las historias clínicas de 26 pacientes intervenidas quirúrgicamente de endometriosis de localización extraovárica en el Hospital General Universitario de Ciudad Real en el período comprendido entre enero del 2003 y enero del 2013. Resultados. Nuestra serie consta de 26 pacientes intervenidas de endometriosis de localización extraovárica. Las localizaciones, por orden de frecuencia, fueron: pared abdominal, ombligo, vulva, apéndice, íleon, saco herniario y colon. Discusión. La localización extrapélvica de la endometriosis se presenta con muy baja frecuencia. El tratamiento quirúrgico es la elección, llevando a cabo una resección con márgenes suficientes que permitirá reducir las posibilidades de recidiva (AU)

Introduction. Endometriosis is a gynecological disease with a prevalence of about 5% to 10% of women. Localization is usually pelvic but in a small group of patients the disease can be localized elsewhere. Material and methods. We performed a descriptive, observational and retrospective study of the medical records of 26 patients treated surgically for extraovarian endometriosis at the University General Hospital of Ciudad Real between January 2003 and January 2013. Results. Our series included 26 patients who underwent surgery for extraovarian endometriosis. In order of frequency, the locations were the abdominal wall, umbilicus, vulva, appendix, ileum, hernia sac and colon. Discussion. The frequency of extrapelvic endometriosis is very low. The treatment of choice is surgery. Resection with adequate margins reduces the chances of recurrence (AU)

Nesidioblastosis. A case of hyperplasia of the islets of Langerhans in the adult.

INTRODUCTION: Nesidioblastosis is a rare disease caused by hyperplasia of pancreatic islets, developing a state of hypoglycemia due to an increase in the insulin production. It is the leading cause of hyperinsulinic hypoglycemia in childhood, whereas in adults it only represents the 0.5-5% of cases. The pathogenesis is still unknown. We have studied several genetic mutations associated with dependent potassium channel of ATP present in the beta cells of the pancreas, as well as in patients underwent bariatric surgery because of the metabolic changes involved. REPORT: Woman (38 years old) attends consultation of General Surgery derived from Endocrinology before symptoms of persistent hypoglycemia. Factitious hypoglycemia and syndromes of neuroendocrine origin were ruled out. Imaging tests failed to identify space-occupying lesions. The medical treatment failed, persisting hypoglycemia symptoms. Before the given analytical and radiological findings obtained, and the persistence of symptoms affecting the quality of life of the patient, we opted for surgical treatment performing a pancreatectomy of the 80% of the gland. The final pathologic diagnosis was nesidioblastosis. DISCUSSION: Nesidioblastosis is a rare pathology, but it must be present in the differential diagnosis of hypoglycemia symptoms with endogenous hyperinsulinism in adults, once the intake of sulfonylureas and possible pancreatic neoformations have been ruled out.

[Fibromatosis breast in the male. Case study]. / Fibromatosis mamaria en el varón. A propósito de un caso.

BACKGROUND: mammary fibromatosis is a rare pathology. It constitutes 0.2% of breast cancers, and case in men are exceptional. The definitive diagnosis is histological. CLINICAL CASE: we report the case of a male of 52 years, diagnosed with breast fibromatosis after pathologic study of tumor in the right breast. Programmed surgery for excision with wide margins was done. We performed a mastectomy of the subcutaneous fibromatosis with a pathologic study with clear margins. The postoperative course was uncomplicated and did not require adjuvant therapy. At 6 months follow-up he remains free of disease. The treatment of choice is surgical excision with wide margins. Adjuvant treatment is controversial. CONCLUSIONS: the fibromatosis in the breast is very rare and an exceptional occurrence in men. Surgery is the definitive treatment; few results exist for adjuvant therapy.

Antecedentes: la fibromatosis mamaria es una enfermedad rara; sus casos son 0.2% de las neoplasias de mama, y en los varones es aún más rara. El diagnóstico definitivo es anatomopatológico. Caso clínico: se comunica el caso de un varón de 52 años, con diagnóstico anatomopatológico de fibromatosis mamaria posterior al estudio de un tumor en la mama derecha. Se le practicó exéresis con amplios márgenes, luego mastectomía subcutánea, con estudio histológico de fibromatosis con márgenes libres. El postoperatorio transcurrió sin complicaciones y no requirió tratamiento coadyuvante. En el seguimiento a seis meses continuaba libre de enfermedad. El tratamiento de elección es la escisión con amplios márgenes y el oncológico coadyuvante es motivo de controversia. Conclusiones: la fibromatosis en la mama es poco frecuente y su aparición en el varón excepcional. El tratamiento quirúrgico es el definitivo, no así la terapia oncológica neoadyuvante que sigue suscitando controversia.

Proximal-type epithelioid sarcoma in pubis. Case report and review of the literature.

BACKGROUND: The "proximal-type" epithelioid sarcoma (PES) is a rare variant of conventional epithelioid sarcoma. It has been described in older patients in the proximal portion of the extremities with a predilection for the pelvis and perineum. It is clinically more aggressive, showing a higher incidence of recurrence, metastasis, resistance to chemotherapy and a higher mortality. We report the case of a patient with a PES of the pubic region and we review the previous literature. CLINICAL CASE: We report the case of a 57-year-old female with a painless, progressively growing mass in the region of the pubis. We performed surgical resection of the lesion with clear margins and histological and immunohistochemical study allowed the definitive diagnosis of PES. After 4 disease-free years, the patient had a tumor recurrence at the same location. We performed en bloc resection of the lesion and immunohistochemical study confirmed the recurrence of PES. The patient refused adjuvant therapy. Today, after 4 years of follow-up, the patient remains asymptomatic and without evidence of recurrence or distant disease. CONCLUSIONS: Diagnosis of PES is complex because histological findings may be confused with multiple tumors; therefore, immunohistochemical study is definitive. PES shows positivity for epithelial markers (cytokeratin and EMA), mesenchymal markers (vimentin) as well as CD34. According to what has been reported in the literature, surgical treatment with free margins is indicated, with adjuvant therapies when the risk of recurrence is high.

Appendicular pseudodiverticula and acute appendicitis. Our 12-year experience.

INTRODUCTION: the presence of diverticula and their complications in the cecal appendix is an uncommon disease. We present a series of 13 patients with this condition, and perform a review of the literature. PATIENTS AND METHOD: we carried out a retrospective study of patients undergoing appendectomy for acute appendicitis in the last twelve years in our department. The pathological examination of these episodes revealed 13 cases with a diagnosis of diverticular disease, all of them consisting of pseudodiverticula. Their clinical manifestations, laboratory results, imaging tests, and histology were analyzed, and findings were compared to those in the previous literature. RESULTS: the incidence of diverticular disease in our setting was 13 cases (0.8%) among 1634 appendectomies for acute appendicitis. Diverticulitis was found in 8 patients (61.5%), and diverticulosis (38.5%) in 5. Appendicular perforation was more common in patients with diverticular disease (53.8%) as compared to those without this condition (31.1%). CONCLUSIONS: complicated diverticular disease in the vermiform appendix of adult patients may result in insidious, recurrent manifestations that may confound preoperative diagnosis. A higher risk for appendicular perforation renders appendectomy the therapy of choice, even prophylactically when the condition is incidentally identified preoperatively.

Pseudodivertículos apendiculares y apendicitis aguda. Nuestra experiencia en 12 años / Appendicular pseudodiverticula and acute appendicitis. Our 12-year experience

Introducción: la presencia de divertículos y sus complicaciones en el apéndice cecal constituyen una entidad infrecuente. Presentamos una serie de 13 pacientes con esta patología y realizamos una revisión de la literatura. Pacientes y método: realizamos un estudio retrospectivo de los pacientes apendicectomizados por apendicitis aguda en los últimos doce años en nuestro servicio. El examen anatomopatológico de estos episodios reveló el diagnóstico de 13 casos con enfermedad diverticular, todos ellos pseudodivertículos. Se analizaron la clínica, pruebas analíticas, de imagen y la histología de los mismos, comparando los resultados con la literatura precedente. Resultados: la incidencia de enfermedad diverticular en nuestro medio fue de 13 casos (0,8%) de 1634 apendicectomías realizadas por apendicitis aguda. En 8 pacientes se halló diverticulitis (61,5%) y en 5 diverticulosis (38,5%). La perforación apendicular fue más frecuente en los pacientes con enfermedad diverticular (53,8%) que en su ausencia (31,1%). Conclusiones: la enfermedad diverticular complicada en el apéndice vermiforme en pacientes de edad adulta puede originar una clínica insidiosa y recurrente, que dificulta el diagnóstico preoperatorio certero. El mayor riesgo de perforación apendicular relacionado con su presencia sitúa a la apendicectomía como el tratamiento de elección, incluso de forma profiláctica cuando su hallazgo intraoperatorio sea incidental(AU)

Introduction: the presence of diverticula and their complications in the cecal appendix is an uncommon disease. We present a series of 13 patients with this condition, and perform a review of the literature. Patients and method: we carried out a retrospective study of patients undergoing appendectomy for acute appendicitis in the last twelve years in our department. The pathological examination of these episodes revealed 13 cases with a diagnosis of diverticular disease, all of them consisting of pseudodiverticula. Their clinical manifestations, laboratory results, imaging tests, and histology were analyzed, and findings were compared to those in the previous literature. Results: the incidence of diverticular disease in our setting was 13 cases (0.8%) among 1634 appendectomies for acute appendicitis. Diverticulitis was found in 8 patients (61.5%), and diverticulosis (38.5%) in 5. Appendicular perforation was more common in patients with diverticular disease (53.8%) as compared to those with - out this condition (31.1%). Conclusions: complicated diverticular disease in the vermiform appendix of adult patients may result in insidious, recurrent manifestations that may confound preoperative diagnosis. A higher risk for appendicular perforation renders appendectomy the therapy of choice, even prophylactically when the condition is incidentally identified preoperatively(AU)