In South America, a high proportion of the population is of Hispanic origin with an important representation in Colombia. Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. Comprehensive BRCA mutation screening was performed using a range of techniques, including DHPLC, SSCP, and PTT, followed by DNA sequencing analysis. Thirteen deleterious germline mutations (24.5%) were identified in 53 families, comprising eight in BRCA1 and five in BRCA2. The two recurrent BRCA1 mutations, 3450 delCAAG and A1708E, accounted for 100% of all BRCA1 mutations identified in this cohort and the recurrent 3034 delACAA BRCA2 mutation for 40% of all BRCA2 mutations. Haplotype analyses suggested that each of these mutations has arisen from a common ancestor. The prevalence of BRCA1 or BRCA2 mutations was 50% in multiple case breast cancer families, and was 33% for the breast-ovarian cancer families. Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia. The spectrum of mutations differed completely to that previously reported in Hispanic families of predominantly Mexican origin from Southern California [1] suggesting that specific genetic risk assessment strategies for the different Hispanic populations in South America and in the United States need to be developed.
BackgroundPrimary neuroendocrine carcinoma of the breast is a heterogeneous group of rare tumors with positive immunoreactivity to neuroendocrine markers in at least 50% of cells. Diagnosis also requires that other primary sites be ruled out and that the same tumor show histological evidence of a breast in situ component. Primary neuroendocrine carcinoma of the breast rarely presents as locally advanced disease and less frequently with such widespread metastatic disease as described herein. The review accompanying this case report is the first to provide an overview of all the cases of primary neuroendocrine carcinoma of the breast published in the literature and encompasses detailed information regarding epidemiology, histogenesis, clinical and histologic diagnosis criteria, classification, surgical and adjuvant treatment, as well as prognosis. We also provide recommendations for common clinical and histologic pitfalls associated with this tumor.Case presentationWe describe a case of a 51-year-old Hispanic woman initially diagnosed with locally-advanced invasive ductal carcinoma that did not respond to neodjuvant treatment. After undergoing modified radical mastectomy the final surgical pathology showed evidence of alveolar-type primary neuroendocrine carcinoma of the breast. The patient was treated with cisplatin/etoposide followed by paclitaxel/carboplatinum. Thirteen months after surgery the patient is alive, but developed pulmonary, bone, and hepatic metastasis.ConclusionThe breast in situ component of primary neuroendocrine carcinoma of the breast may prevail on a core biopsy samples increasing the probability of underdiagnosing this tumor preoperatively. Being aware of the existence of this disease allows for timely diagnosis and management. Optimal treatment requires simultaneous consideration of both the neuroendocrine and breast in situ tumor features.
La pandemia por el virus SARS-CoV-2 y la enfermedad generada (COVID-19, del inglés Coronavirus 2019 Disease), llevó a nivel mundial a cambios significativos en la forma de prestar los servicios de salud, incluida la actividad quirúrgica. Como parte de esta realidad, se recomendó en Colombia la adopción de disposiciones enfocadas a preparar nuestro sistema de salud para enfrentar una avalancha de pacientes COVID-19, que se esperaba fuera similar a la presentada en otros países. Las medidas se tomaron en el momento oportuno, ganando tiempo de preparación, sin que hasta la fecha (8 semanas después del primer caso diagnosticado en Colombia) se haya desbordado la demanda de atención, modificando la forma esperada de la curva epidemiológica, con un número menor de pacientes.
Neoadjuvant chemotherapy (NAT) in breast cancer (BC) has been used to reduce tumor burden prior to surgery. However, the impact on prognosis depends on the establishment of Pathological Complete Response (pCR), which is influenced by tumor-infiltrating lymphocyte levels and the activation of the antitumor immune response. Nonetheless, NAT can affect immune infiltration and the quality of the response. Here, we showed that NAT induces dynamic changes in the tumor microenvironment (TME). After NAT, an increase of regulatory T cells and a decrease of CD8+ T cells was found in tumor, correlated with the presence of metastatic cells in lymph nodes. In addition, an increase of polymorphonuclear myeloid-derived suppressor like cells was found in luminal patients post-NAT. pCR patients showed a balance between the immune populations, while non-pCR patients presented an inverse relationship in the frequency of CD68+ versus CD3+, CD8+, and CD20+ cells. Moreover, activated T cells were found in peripheral blood, as well as an increase in T cell clonality with a lower diversity post-NAT. Overall, these results shown that NAT induces an activation of immune response, however, a balance in the TME seems to be related to a better antigenic presentation and therefore a better response to treatment.
Necrotizing fasciitis (NF) is a rare and highly lethal soft-tissue infection that involves the skin, subcutaneous tissue, and fascia. Although it can affect any part of the body, the breast is seldom involved. We describe a case of bilateral NF of the breast following elective quadrantectomy, successfully treated with antibiotics, bilateral mastectomy, and a vacuum-assisted wound closure system.
Hasta el momento no se ha publicado información conclusiva que respalde la teoría de que los virus respiratorios se transmitan a través del humo quirúrgico o el neumoperitoneo. Por lo tanto, las alertas sobre los riesgos de la laparoscopia emitidas durante las primeras semanas de la pandemia deben ser analizadas con precaución y a la luz de la evidencia cambiante sobre el tema. Tanto la cirugía abierta como la laparoscópica tienen el potencial de generar aerosoles de partículas y por lo tanto, en ambos escenarios es fundamental la protección de todo el equipo de trabajo dentro del quirófano. En todos los procedimientos durante la época de pandemia, se deben buscar las estrategias más efectivas para controlar las potenciales fuentes de trasmisión y minimizar la exposición del personal en los momentos de mayor riesgo, relacionados con el manejo de la vía aérea y las cavidades del paciente. La siguiente es una revisión narrativa de literatura sobre las cirugías durante la pandemia del SARS-CoV-2 / COVID-19 y el efecto de los aerosoles durante estos procedimientos, con el fin de integrar y dar a conocer las principales medidas que se han propuesto a nivel global, para manejar este nuevo grupo de pacientes.
Este documento pretende dar algunos lineamientos útiles para la atención en los servicios quirúrgicos en Colombia durante la pandemia COVID-19, teniendo en cuenta la literatura científica publicada hasta la fecha, que ha emergido rápidamente y es probable que vaya cambiando a medida que el conocimiento sobre esta materia avance y permita generar nuevas recomendaciones acordes. Estas medidas están sujetas a revisión periódica según la situación global y local de la pandemia así como su etapa de desarrollo cambien y deben aplicarse de acuerdo con las necesidades particulares de cada hospital, así como las recomendaciones de las autoridades competentes del Gobierno Nacional colombiano. Cada servicio de cirugía podrá implementar estas recomendaciones en función de sus circunstancias particulares.
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