Factors Associated with Time to Progression and Overall Survival in Patients with De Novo Metastatic Breast Cancer: A Colombian Cohort.

PURPOSE: About 10% of breast cancer (BC) is diagnosed in stage IV. This study sought to identify factors associated with time to progression (TTP) and overall survival (OS) in a cohort of patients diagnosed with de novo metastatic breast cancer (MBC), from a single cancer center in Colombia, given that information on this aspect is limited. METHODOLOGY: An observational, analytical, and retrospective cohort study was carried out. Time to progression and OS rates were estimated using the Kaplan-Meier survival functions. Cox models were developed to assess association between time to progression and time to death, using a group of fixed variables. RESULTS: Overall, 175 patients were included in the study; 33.7% of patients had luminal B HER2-negative tumors, 49.7% had bone involvement, and 83.4% had multiple metastatic sites. Tumor biology and primary tumor surgery were the variables associated with TTP and OS. Patients with luminal A tumors had the lowest progression and mortality rates (10 per 100 patients/year (95% CI: 5.0-20.0) and 12.6 per 100 patients/year (95% CI: 6.9-22.7), respectively), and patients with triple-negative tumors had the highest progression and mortality rates (40 per 100 patients/year (95% CI: 23.2-68.8) and 44.1 per 100 patients/year (95% CI: 28.1-69.1), respectively). Across the cohort, the median TTP was 2.1 years (95% CI: 1.6; the upper limit cannot be reached) and the median OS was 2.4 years (95% CI: 2-4.3). CONCLUSIONS: In this cohort, patients with luminal A tumors and those who underwent tumor surgery given that they presented clinical benefit (CB) after initial systemic treatment, had the lowest progression and mortality rates. Overall, OS was inferior to other series due to high tumor burden and difficulties in accessing and continuing oncological treatments.

Syncope due to non-sustained episodes of Torsade de Pointes associated to androgen-deprivation therapy use: a case presentation.

BACKGROUND: Abiraterone is a medication frequently used for metastatic castrate-resistant prostate cancer. We report a case of non-sustained episodes of TdP associated with severe hypokalemia due to androgen-deprivation therapy. Few case presentations describe this association; the novelty lies in the potentially lethal cardiovascular events among cancer patients receiving hormonal therapy. CASE PRESENTATION: A 70-year-old male presented with recurrent syncope without prodrome. ECG revealed frequent ventricular ectopy, non-sustained episodes of TdP, and severe hypomagnesemia and hypokalemia. During potassium and magnesium infusion for repletion, the patient underwent temporary transvenous atrial pacing. As part of the work-up, coronary angiography revealed a mild coronary artery disease, and transthoracic echocardiogram showed a moderately depressed ejection fraction. After electrolyte disturbances were corrected, the QT interval normalized, and transvenous pacing was no longer necessary. Abiraterone was discontinued during the admission, and the patient returned to baseline. CONCLUSIONS: Cancer treatment is complex and requires a multidisciplinary approach. We presented a case of non-sustained TdP associated with androgen-deprivation therapy in an elderly patient with mild coronary artery disease and moderately reduced ejection fraction. Close follow-up and increased awareness are required in patients with hormonal treatment, especially in the setting of other cardiovascular risk factors.

Hydroxypropyl-ß-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.

Studies suggest that altered renal lipid metabolism plays a role in the pathogenesis of diabetic kidney disease and that genetic or pharmacological induction of cholesterol efflux protects from the development of diabetic kidney disease and focal segmental glomerulosclerosis (FSGS). Here we tested whether altered lipid metabolism contributes to renal failure in the Col4a3 knockout mouse model for Alport Syndrome. There was an eight-fold increase in the cholesterol content in renal cortexes of mice with Alport Syndrome. This was associated with increased glomerular lipid droplets and cholesterol crystals. Treatment of mice with Alport Syndrome with hydroxypropyl-ß-cyclodextrin (HPßCD) reduced cholesterol content in the kidneys of mice with Alport Syndrome and protected from the development of albuminuria, renal failure, inflammation and tubulointerstitial fibrosis. Cholesterol efflux and trafficking-related genes were primarily affected in mice with Alport Syndrome and were differentially regulated in the kidney cortex and isolated glomeruli. HPßCD also protected from proteinuria and mesangial expansion in a second model of non-metabolic kidney disease, adriamycin-induced nephropathy. Consistent with our experimental findings, microarray analysis confirmed dysregulation of several lipid-related genes in glomeruli isolated from kidney biopsies of patients with primary FSGS enrolled in the NEPTUNE study. Thus, lipid dysmetabolism occurs in non-metabolic glomerular disorders such as Alport Syndrome and FSGS, and HPßCD improves renal function in experimental Alport Syndrome and FSGS.

Neither Medicine Nor Health Care Staff Members Are Violent By Nature: Obstetric Violence From an Interactionist Perspective.

This study sought to understand the meaning that women place on the health care practices carried out during labor. We used techniques from Grounded Theory such as coding, categorization, and constant comparison. A total of 18 interviews were conducted with 16 women who had given birth at least once in Colombia. Based on our results, we argue that obstetric violence is an expression of violence during the provision of health care, which occurs in a social environment favoring the development of power relationships between patients and health care staff. Its origin might lie in a health care system whose political and economic foundations encourage inequality on the basis of the patients' purchasing power. We conclude that rethinking and redefining the concept of obstetric violence is essential for understanding its nature and having an impact on it.

Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor.

Nephrin belongs to a family of highly conserved proteins with a well characterized function as modulators of cell adhesion and guidance, and nephrin may have a role in metabolic pathways linked to podocyte and pancreatic ß-cell survival. However, this role is incompletely characterized. In this study, we developed floxed nephrin mice for pancreatic ß-cell-specific deletion of nephrin, which had no effect on islet size and glycemia. Nephrin deficiency, however, resulted in glucose intolerance in vivo and impaired glucose-stimulated insulin release ex vivo Glucose intolerance was also observed in eight patients with nephrin mutations compared with three patients with other genetic forms of nephrotic syndrome or nine healthy controls.In vitro experiments were conducted to investigate if nephrin affects autocrine signaling through insulin receptor A (IRA) and B (IRB), which are both expressed in human podocytes and pancreatic islets. Coimmunoprecipitation of nephrin and IRB but not IRA was observed and required IR phosphorylation. Nephrin per se was sufficient to induce phosphorylation of p70S6K in an phosphatidylinositol 3-kinase-dependent but IR/Src-independent manner, which was not augmented by exogenous insulin. These results suggest a role for nephrin as an independent modulator of podocyte and pancreatic ß-cell nutrient sensing in the fasting state and the potential of nephrin as a drug target in diabetes.

Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia.

This study aimed to investigate prognosis and survival differences in 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Breast Unit of the Instituto Nacional de Cancerología, Colombia (INC-C) between 2018 and 2021. Median age at diagnosis was 46 years, with 62.2% presenting locally advanced tumors, 47.6% histological grade 3, and 35.4% with triple-negative breast cancer (TNBC) subtype. Most carriers, 74.4% (61/82), had PVs in known breast cancer susceptibility genes (i.e., "associated gene carriers" group, considered inherited breast cancer cases): BRCA2 (30), BRCA1 (14), BARD1 (4), RAD51D (3), TP53 (2), PALB2 (2), ATM (2), CHEK2 (1), RAD51C (1), NF1 (1), and PTEN (1). BRCA1-2 represented 53.7%, and homologous recombination DNA damage repair (HR-DDR) genes associated with breast cancer risk accounted for 15.9%. Patients with PVs in non-breast-cancer risk genes were combined in a different category (21/82; 25.6%) (i.e., "non-associated gene carriers" group, considered other breast cancer cases). Median follow-up was 38.1 months, and 24% experienced recurrence, with 90% being distant. The 5-year Disease-Free Survival (DFS) for inherited breast cancer cases was 66.5%, and for other breast cancer cases it was 88.2%. In particular, for carriers of PVs in the BRCA2 gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in BRCA2 to 100% for those with PVs in other HR-DDR genes. Further studies are crucial for understanding tumor behavior and therapy response differences among Colombian breast cancer patients with germline PVs.

Role of Cholangioscopy in a Patient With Hepatolithiasis and Caroli Disease.

Caroli disease is an infrequent congenital pathology that is part of the spectrum of fibrocystic diseases, characterized mainly by malformation of bile ducts. These patients often have stones and cholangitis, which respond poorly to conventional endoscopic retrograde cholangiopancreatography. To date, there is little evidence on the usefulness of cholangioscopy in this disease, so we describe the experience of performing cholangioscopy in a patient with hepatolithiasis and Caroli disease.

Revisiting the indication for prophylactic contralateral mastectomy in patients with Li-Fraumeni syndrome and breast cancer. Case report / Revisitando la indicación de la mastectomía profiláctica contralateral en pacientes con Síndrome de Li-Fraumeni y cáncer de mama. Reporte de un caso

Objective: To describe the case of a patient with Li-Fraumeni syndrome (LFS) and breast cancer in whom the benefit of contralateral prophylactic mastectomy (CPM) was challenged; and to offer a critical discussion regarding the evidence supporting this procedure in this patient population. Case presentation: A 37-year-old woman with breast cancer and a family history of multiple early onset cancer of the LFS spectrum in whom a pathogenic variant of the TP53 gene was confirmed during adjuvant hormonal therapy. The case was presented during the multidisciplinary meeting of the Breast Service of a referral oncology center in Colombia, in order to discuss the benefit of CPM. The decision of the board meeting was not to perform CPM. After 30 months of follow-up, the patient is disease-free. Conclusion: There is no evidence on the impact of CPM on survival of patients with LFS and breast cancer in particular. However, in light of the current knowledge, it is not possible to generalize the approach of withholding this prophylactic surgery. It is important to report those cases in which the decision is made to either perform or omit this procedure in order to increase the body of evidence, considering the limitations that make it difficult to build large cohorts or conduct trials exclusively for this genetic disorder.

Objetivo: describir el caso de una paciente con Síndrome de Li-Fraumeni (SLF) y cáncer de mama, en quien se cuestionó el beneficio en la supervivencia de la mastectomía profiláctica contralateral (MPC); asimismo, se pretende hacer una discusión crítica acerca de la evidencia que soporta este procedimiento en esta población. Presentación del caso: mujer de 37 años con cáncer de mama y múltiples antecedentes familiares de cánceres de temprana aparición del espectro del SLF, en quien, durante la adyuvancia hormonal, se confirmó una variante patogénica en el gen TP53. La paciente fue presentada en la Junta Multidisciplinaria del Servicio de Mama de un Centro Oncológico de referencia en Colombia, con el fin de discutir el beneficio de la MPC. La decisión de la junta fue no realizar la MPC. Después de 30 meses de seguimiento la paciente se encuentra libre de enfermedad. Conclusión: no existe evidencia que analice, de forma particular, el impacto de la MPC en la supervivencia de las pacientes con SLF y cáncer de mama. Sin embargo, a la luz del conocimiento actual no es posible generalizar la conducta de omitir esta cirugía profiláctica. Es importante reportar los casos en los que se decida realizar u omitir este procedimiento con el fin de incrementar el cuerpo de la evidencia, dado que existen limitaciones para construir grandes cohortes o estudios experimentales exclusivos para esta alteración genética.

Seguimiento de la paciente con diagnóstico de cáncer de mama. Revisión de la evidencia y abordaje terapéutico en el Instituto Nacionalde Cancerología - Colombia / Follow-up of the patient with breast cancer history. Review of the evidence and approach at the Instituto Nacional de Cancerología - Colombia

Los supervivientes de cáncer se definen como aquellos individuos que han completado su tratamiento inicial y no tienen evidencia de la enfermedad. Para el caso de las pacientes supervivientes de cáncer de mama, el seguimiento involucra no sólo la vigilancia de la recaída locorregional y a distancia, así como la tamización de segundos primarios mamarios, sino también la evaluación de los efectos relacionados con las terapias recibidas. Hoy en día, existe controversia sobre cuál debe ser el método, la frecuencia, la duración y tipo de personal de la salud que realice el seguimiento de estas pacientes. Las guías de las distintas sociedades científicas muestran una variabilidad importante en las recomendaciones a este respecto. Este documento pretende revisar la mejor evidencia disponible sobre los procedimientos para la detección de la recaída locorregional, de las metástasis a distancia, de un segundo cáncer de mama contralateral y de los eventos adversos relacionados con los tratamientos para el cáncer de mama. Adicionalmente, se examinan los porcentajes y sitios de recidiva tumoral con relación al estadio clínico y a la biología tumoral

Cancer survivors are defined as those individuals who have completed their initial treatment and have no evidence of disease. In the case of breast cancer survivors, follow-up involves not only surveillance of locoregional and distant relapse, as well as screening for second primary breast cancers, but also evaluation of the effects related to the therapies received. Nowadays, there is controversy about what should be the method, the frequency, the duration and the type of health personnel that carry out the follow-up of these patients. The guides of the different scientific societies show a significant variability in the recommendations in this regard. This document aims to review the best available evidence on procedures for the detection of locoregional relapse, distant metastases, contralateral second breast cancer, and adverse events related to breast cancer treatments. Additionally, the percentages and sites of tumor recurrence are examined in relation to clinical stage and tumor biology

Tratamiento sistémico para el cáncer de mama HER2 positivo avanzado. Revisión de la evidencia y abordaje terapéutico en el Instituto Nacional de Cancerología - Colombia / Systemic treatment for advanced HER2 positive breast cancer. Review of the evidence and therapeutic approach at the Instituto Nacional de Cancerología - Colombia

El cáncer de mama es la neoplasia más frecuente y de mayor mortalidad en las mujeres en todo el mundo. El receptor 2 del factor de crecimiento epidérmico humano (HER2) se sobreexpresa en aproximadamente el 20% de las pacientes con cáncer de mama y se asocia a mayor riesgo de recidiva tumoral y mortalidad. Antes del desarrollo de los anticuerpos monoclonales dirigidos contra HER2, el cáncer de mama HER2 positivo estaba asociado con un pronóstico desfavorable. El uso de las terapias dirigidas anti HER2 ha mejorado significativamente las tasas de supervivencia global tanto en el escenario adyuvante como en la enfermedad metastásica. En los últimos años han surgido nuevos medicamentos que bloquean esta vía de señalización, lo cual ha permitido establecer varias líneas de tratamiento con terapia anti HER2 en las pacientes con enfermedad metastásica. Por esta razón, las unidades funcionales de Oncología Clínica/Seno y Tejidos Blandos tomaron la decisión de realizar una revisión de la evidencia científica disponible a octubre de 2021, para establecer las recomendaciones en el abordaje terapéutico de las pacientes con cáncer de mama metastásico HER2 positivo en el Instituto Nacional de Cancerología (INC).

Breast cancer is the most common neoplasm and the one with the highest mortality in women worldwide. Human epidermal growth factor receptor 2 (HER2) is overexpressed in approximately 20% of breast cancer patients and is associated with an increased risk of tumor recurrence and mortality. Before the development of monoclonal antibodies directed against HER2, HER2-positive breast cancer was associated with a poor prognosis. The use of anti-HER2 targeted therapies has significantly improved overall survival rates both in the adjuvant setting and in metastatic disease. In recent years, new drugs have emerged that block this signaling pathway, which has made it possible to establish several lines of treatment with anti-HER2 therapy in patients with metastatic disease. For this reason, the clinical oncology/breast and soft tissue functional units made the decision to conduct a review of the available scientific evidence as of October 2021 to establish recommendations for the therapeutic approach to patients with HER2-positive metastatic breast cancer in the National Cancer Institute (INC).

Indicaciones para el uso de pertuzumab en cáncer de mama HER2 positivono metastásico en los escenarios neoadyuvante y adyuvante. Revisión de la evidencia y abordaje terapéutico en el Instituto Nacional de Cancerología - Colombia / Indications for the use of pertuzumab in non-metastatic HER2-positive breast cancer in the neoadjuvant and adjuvant. Review of the literature and therapeutic approach at the Instituto Nacional de Cancerología - Colombia

La adición de la terapia dirigida a la quimioterapia citotóxica en pacientes con cáncer de mama ha mejorado significativamente los desenlaces oncológicos en las pacientes con tumores HER2 positivo. El uso de pertuzumab durante el manejo neoadyuvante incrementa significativamente la respuesta patológica completa y en la actualidad permite emplear regímenes libres de antraciclinas con una eficacia similar y menores efectos cardiovasculares (en especial sobre la fracción de eyección). El beneficio en supervivencia libre de enfermedad invasiva, de adicionar pertuzumab en el escenario adyuvante en las pacientes sin tratamiento anti HER2 previo, está limitado a aquellas con ganglios positivos. La implementación de esquemas con bloqueo dual anti HER2, durante el tratamiento inicial del cáncer de mama HER2 positivo, mejora significativamente el pronóstico oncológico en este grupo de pacientes.

The addition of targeted therapy to cytotoxic chemotherapy in patients with breast cancer has significantly improved oncologic outcomes in patients with HER2-positive tumors. The use of pertuzumab during neoadjuvant management significantly increases the complete pathological response and currently allows the use of anthracycline-free regimens with similar efficacy and fewer cardiovascular effects (especially on ejection fraction). The benefit of pertuzumab in disease-free survival in the adjuvant setting for patients without prior anti-HER2 treatment is limited to those with positive nodes. The implementation of schemes with dual anti-HER2 blockade during the initial treatment of HER2-positive breast cancer significantly improves the oncological outcomes in this group of patients.

Estudios de extensión para la estadificación del cáncer de mama infiltrante. Revisión de la evidencia y abordaje terapéutico en el Instituto Nacional de Cancerología - Colombia / Extension studies for the staging of infiltrating breast cancer. Review of evidence and therapeutic approach at the Instituto Nacional de Cancerología - Colombia

La estadificación del cáncer de mama tiene como objetivo determinar la extensión de la enfermedad, definir el tratamiento y el pronóstico de la misma. La American Joint Committee on Cancer(AJCC) ha asignado el estadio utilizando el tamaño del tumor (T), la presencia de compromiso ganglionar (N), y la presencia o ausencia de metástasis a distancia (M). Con el advenimiento de la biología molecular, se integra a la estadificación anatómica la información pronóstica con el grado histológico, el estado de los receptores hormonales y el resultado del receptor de HER2. En el Instituto Nacional de Cancerología (INC), la incorporación del TNM pronóstico trajo consigo un aumento de estadio en el 14,47% de los casos y una disminución en el 40,3%; este resultado se atribuyó en parte al mayor porcentaje de tumores localmente avanzados dentro de la institución. Por subtipo biológico, los tumores luminales presentan mayor riesgo de metástasis óseas, los tumores triple negativo a pulmón y sistema nervioso central; y los tumores HER2 a SNC, hígado y pulmón. Teniendo en cuenta este compromiso a distancia, los métodos de estadificación comúnmente utilizados son gammagrafía ósea (GO), radiografía de tórax (RxT), ecografía hepática (UH) y/o tomografía computarizada (TC). En el caso de identificar hallazgos sospechosos en estos exámenes o si el cuadro clínico del paciente lo sugiere, se realizan estudios adicionales como TC o resonancia magnética nuclear (RMN). Los cambios en la estadificación clínica y la biología del cáncer de mama motivaron a las Unidades de Seno y Tejidos Blandos y Oncología Clínica del Instituto Nacional de Cancerología a revisar la evidencia científica disponible para recomendar la pertinencia de los estudios de extensión.

The staging of breast cancer has the objective to determine the extent of the disease, define treatment and prognosis. The American Joint Committee on Cancer (AJCC) has assigned the stage using the size of the tumor (T), the presence of lymph node involvement (N), and the presence or absence of distant metastases (M). With the advent of molecular biology, prognostic information with histological grade, hormone receptor status, and HER2 receptor is integrated with anatomic staging. In the National Institute of Cancerology (INC) the incorporation of TNM brought with it an increase in stage in 14.47% of cases and a decrease in 40.3%; this result was attributed in part to the higher percentage of locally advanced tumors within the institution. By biological subtype, luminal tumors have a higher risk of bone metastases, triple negative tumors to the lung and central nervous system; and HER2 tumors to CNS, liver and lung. Taking this distant involvement into account, the commonly used staging methods are bone scan (BS), chest radiography (CXR), liver ultrasound (UH) and/or computed tomography (CT) scans. In the case of identifying suspicious findings in these tests or if the patient's clinical condition suggests it, additional studies such as CT or magnetic resonance imaging (MRI) are performed. Changes in the clinical staging and biology of breast cancer motivated the Breast and Clinical Oncology Functional Unit of the National Cancer Institute to review the available scientific evidence to recommend the relevance of extension studies.

Criterios para la identificación de síndromes de cáncer de mama hereditarios. Revisión de la literatura y recomendaciones para el Instituto Nacional de Cancerología - Colombia / Criteria for the identification of hereditary breast cancer syndromes. Review of the literature and recommendations for the Instituto Nacional de Cancerología - Colombia

Introducción. Los síndromes de cáncer de mama hereditario (SCMH) corresponden a un 5% a 10% de todos los casos de la enfermedad, en su mayoría explicados por mutaciones en los genes BRCA1 y BRCA2. Se han publicado múltiples guías y recomendaciones internacionales actualizadas, con el fin de dar lineamientos para seleccionar los casos con sospecha de un SCMH. Como antecedentes locales, el Instituto Nacional de Cancerología de Colombia cuenta con un "Programa institucional para la identificación y manejo de familias con sospecha de cáncer hereditario", con fines asistenciales, dentro del cual el cáncer de mama es la patología más remitida al servicio de genética (55%; 540/986). En el 21% de los casos con cáncer de mama que cumplieron criterios NCCN se diagnosticó un SCMH, la mayoría asociados a mutaciones en los genes BRCA1 y BRCA2 (12,3%) y en menor proporción a otros genes de susceptibilidad al cáncer de mama (8,6%).Objetivo. Identificar los criterios de selección más implementados para diagnosticar los casos de cáncer de mama hereditarios a través de una revisión de la literatura, y realizar un consenso Institucional sobre las indicaciones de remisión a consejería genética y solicitud de pruebas para fines diagnósticos y de tratamiento sistémico con iPARP. Materiales y métodos. Se realizó una revisión narrativa de la literatura científica publicada en los últimos 10 años, al 30 de agosto del 2021, sobre la prevalencia de mutaciones germinales en los genes BRCA1 y BRCA2, y en otros genes no BRCA, en pacientes con cáncer de mama, obteniéndose en total 146 y seleccionándose un total de 41 artículos. En el interior de las unidades funcionales de mama y tejidos blandos, genética y oncología clínica, se presentó la evidencia disponible, realizando una discusión amplia entre las tres unidades y finalmente se definieron las indicaciones para remisión a genética, para solicitar estudios genéticos y de tratamiento sistémico con iPARP.Resultados. Según lo reportado en la literatura, los principales criterios de sospecha de un SCMH deben incluir: el subtipo triple negativo, la presentación bilateral, la edad muy temprana de diagnóstico y los antecedentes familiares (AF) de cáncer de mama antes de los 50 años o cáncer de ovario a cualquier edad.Conclusiones. Se adoptan las recomendaciones de la NCCN para la remisión a consejería genética y solicitud de estudios genéticos para identificar cáncer de mama hereditario, y se establecen los criterios del estudio OlympiA para la solicitud de estudios genéticos con el fin de guiar el tratamiento sistémico con iPARP en el Instituto Nacional de Cancerología. Lo anterior permitirá que desde nuestra Institución se ofrezca adecuadamente este servicio a la población colombiana.

ntroduction: Hereditary breast and ovarian cancer syndromes (HBOC) represents 5% to 10% of all breast cancer cases, and BRCA1andBRCA2 explain most of these syndromes. Multiple guidelines and updated recommendations have been published to define which patients should be selected for genetic testing based on a clinical suspicion of a HBOC syndrome. For context, the Instituto Nacional de Cancerología from Colombia developed an "Institutional Program for the identification and management of families with suspected hereditary cancer" for healthcare purposes, within which breast cancer is the most referred pathology to the genetics service (55%; 540/986). Inherited cancer was diagnosed in 21% of the patients with breast cancer who met NCCN criteria; most of these were associated with BRCA1 and BRCA2 mutations (12.3%) and to a lesser extent to other breast cancer susceptibility genes (8.6%).Objective: To identify the most implemented selection criteria to diagnose inherited breast cancer cases, through a review of the literature, and to achieve an institutional consensus on the indications for referral to genetic counseling and genetic testing for diagnostic and systemic treatment with PARPi.Materials and methods: A narrative review of the scientific literature published in the last 10 years as of August 30, 2021 on the prevalence of germline mutations in the BRCA1 and BRCA2 genes, and in other non-BRCA genes, in patients with breast cancer was carried out. Overall, 146 articles were first identified but only 41 were selected. Within the functional units of breast and soft tissue, genetics and clinical oncology, the available evidence was presented and a broad discussion was carried out; finally the indications for referral to genetic counseling, for genetic testing and for systemic treatment with PARPi were defined.Results: As reported in the literature, clinical criteria for HBOC syndrome should include: triple negative subtype, bilateral presentation, very early age of diagnosis and family history (FH) of breast cancer before 50 years of age or ovarian cancer at any age. Conclusions: The NCCN recommendations for referral to genetic counseling and ordering genetic testing to diagnose HBOC cases are adopted at the Instituto Nacional de Cancerología from Colombia, as well as the OlympiA study criteria for ordering genetic testing to guide systemic PARPi therapy. This will allow our Institution to adequately offer this service to the Colombian population.

Vida en ruralidad y su efecto sobre la salud de las personas mayores en el sur de Chile / Rural living and their effect about the health of the older people in the south of Chile

RESUMEN Introducción: La investigación vincula tres aspectos relevantes para la política social dirigida a personas mayores y sus condiciones de vida: situación de salud, pobreza y ruralidad. Objetivo: analizar las condiciones de vida propias de personas mayores de 60 años que viven en tres zonas rurales del sur de Chile y el efecto de estas sobre la salud y funcionalidad. Métodos: Se desarrolló una investigación cualitativa, sobre la base de un diseño interpretativo crítico. Se entrevistaron 22 personas de 60 a 80 años de edad, residentes de tres territorios rurales del sur de Chile: Forrahue, Pucatrihue y Neltume durante el segundo semestre del año 2018. Resultados: Los resultados permiten discutir sobre las condiciones de salud general de las personas entrevistadas, el efecto positivo de la actividad física y la combinación con la alimentación, los efectos del dolor crónico y de la asociatividad para el bienestar ante condiciones de vida adversa y aislada de zonas y recursos urbanos. Discusión: Las intervenciones sanitarias dirigidas hacia personas mayores de 60 años deben incorporar las variables de la territorialización de sus prácticas para el bienestar.

ABSTRACT Introduction: the research links three key aspects of social policy designed for seniors and their living conditions: health status, poverty and rurality. Objective: assess the specific living conditions of people older than 60 years of age living in three rural areas of southern Chile and their effects on health and general functioning. Methods: Qualitative research was conducted using a critical interpretive design wherein 22 people aged 60 to 80 were interviewed who are residents of three rural areas in southern Chile: Forrahue, Pucatrihue and Neltume during the second half of 2018. Results: the results enable a discussion of the general health conditions of the interviewees, the positive effects of physical activity in conjunction with diet, the effect of chronic pain and their connections to wellbeing in light of adverse living conditions, isolated from urban areas and resources. Discussion: the health interventions geared toward people over 60 years of age must incorporate variables related to the territorialization of such practices for wellbeing.

Tumores anexiales incidentales en cirugía abdominal / Incidental adnexal tumors in abdominal surgery

La posibilidad de encontrar una neoplasia benigna o maligna del ovario, de forma inesperada durante una intervención quirúrgica abdominal, es una realidad para todos los especialistas en cirugía. Si bien en muchos casos se tratará de una lesión benigna, el riesgo de cáncer no debe subestimarse, ya que, por ejemplo, la ruptura intraoperatoria de una lesión quística maligna puede reestadificar a una paciente con cáncer de ovario del estadio IA al IC, con todas las consecuencias que esto implica, como la necesidad de requerir quimioterapia adyuvante y tener un peor pronóstico. Por otro lado, en mujeres premenopáusicas debe discutirse con la familia o la paciente (idealmente) el riesgo e implicaciones de la ooforectomía uni o bilateral, incluso si esto amerita dejar el quirófano para obtener el consentimiento, o posponer el procedimiento definitivo para un segundo tiempo. La consulta intraoperatoria a un ginecólogo, siempre que sea posible, se debe llevar a cabo con el fin de respaldar la conducta adoptada. Conocer el manejo adecuado de las masas anexiales encontradas de forma incidental durante una cirugía abdominal, es una prioridad para todos los cirujanos generales.

The possibility of finding a benign or malignant neoplasm of the ovary unexpectedly during abdominal surgery is a reality for all specialists in surgery. Although in many cases it will be a benign lesion, the risk of cancer should not be underestimated, since, for example, the intraoperative rupture of a malignant cystic lesion may well re-stage a patient with ovarian cancer from stage IA to IC, with the consequences that this implies, such as the need for adjuvant chemotherapy and a worse prognosis. On the other hand, in premenopausal women, the risk and implications of unilateral or bilateral oophorectomy should be discussed with the family or the patient (ideally), even if this implies leaving the operating room to obtain consent, or postponing the definitive procedure for a second time. Intraoperative consultation with a gynecologist, whenever possible, should be carried out in order to support the adopted behavior. Knowing the proper management of adnexal masses found incidentally during abdominal surgery is a priority for all general surgeons.

Revisitando la indicación de la mastectomía profiláctica contralateral en pacientes con Síndrome de Li-Fraumeni y cáncer de mama. Reporte de un caso / Revisiting the indication for prophylactic contralateral mastectomy in patients with Li-Fraumeni syndrome and breast cáncer. Case report

Objetivo: describir el caso de una paciente con Síndrome de Li-Fraumeni (SLF) y cáncer de mama, en quien se cuestionó el beneficio en la supervivencia de la mastectomía profiláctica contralateral (MPC); asimismo, se pretende hacer una discusión crítica acerca de la evidencia que soporta este procedimiento en esta población. Presentación del caso: mujer de 37 años con cáncer de mama y múltiples antecedentes familiares de cánceres de temprana aparición del espectro del SLF, en quien, durante la adyuvancia hormonal, se confirmó una variante patogénica en el gen TP53. La paciente fue presentada en la Junta Multidisciplinaria del Servicio de Mama de un Centro Oncológico de referencia en Colombia, con el fin de discutir el beneficio de la MPC. La decisión de la junta fue no realizar la MPC. Después de 30 meses de seguimiento la paciente se encuentra libre de enfermedad. Conclusión: no existe evidencia que analice, de forma particular, el impacto de la MPC en la supervivencia de las pacientes con SLF y cáncer de mama. Sin embargo, a la luz del conocimiento actual no es posible generalizar la conducta de omitir esta cirugía profiláctica. Es importante reportar los casos en los que se decida realizar u omitir este procedimiento con el fin de incrementar el cuerpo de la evidencia, dado que existen limitaciones para construir grandes cohortes o estudios experimentales exclusivos para esta alteración genética.

Objective: To describe the case of a patient with Li-Fraumeni syndrome (LFS) and breast cancer in whom the benefit of contralateral prophylactic mastectomy (CPM) was challenged; and to offer a critical discussion regarding the evidence supporting this procedure in this patient population. Case presentation: A 37-year-old woman with breast cancer and a family history of multiple early onset cancer of the LFS spectrum in whom a pathogenic variant of the TP53 gene was confirmed during adjuvant hormonal therapy. The case was presented during the multidisciplinary meeting of the Breast Service of a referral oncology center in Colombia, in order to discuss the benefit of CPM. The decision of the board meeting was not to perform CPM. After 30 months of follow-up, the patient is disease-free. Conclusion: There is no evidence on the impact of CPM on survival of patients with LFS and breast cancer in particular. However, in light of the current knowledge, it is not possible to generalize the approach of withholding this prophylactic surgery. It is important to report those cases in which the decision is made to either perform or omit this procedure in order to increase the body of evidence, considering the limitations that make it difficult to build large cohorts or conduct trials exclusively for this genetic disorder.

Non-Traumatic Spontaneous Spinal Subdural Hematoma in a Patient with Non-Valvular Atrial Fibrillation During Treatment with Rivaroxaban.

BACKGROUND: Spontaneous spinal subdural hematoma (SSDH) is a rare but disabling condition, accounting for only 4.1% of all intraspinal hematomas. Risk factors include arteriovenous malformations, coagulopathy, therapeutic anticoagulation, underlying neoplasms, or following spinal puncture. Vitamin K antagonists, antiplatelet agents, and heparinoids have been associated with SSDHs in prior reports. To the best of our knowledge, no cases have reported this association with the factor Xa inhibitor, rivaroxaban, and SSDHs. CASE REPORT: We report the case of a 69-year-old Honduran man with a 5-year history of symptomatic palpitations due to non-valvular atrial fibrillation. He was initially refractory to pharmacologic therapy. He underwent cardioversion in February 2014. After cardioversion, he remained asymptomatic on flecainide. He was anticoagulated on rivaroxaban 20 mg daily without incident since early 2013 until presentation in August 2014. He presented with sudden onset of excruciating upper and lower back pain after minimal movement. This was immediately followed by bilateral lower extremity paresis rapidly progressing to paraplegia with bowel and bladder dysfunction over 15 minutes. Magnetic resonance imaging demonstrated an acute spinal subdural hematoma extending from T3 inferiorly to the conus medullaris. Six months after undergoing cervical and lumbar drainage procedures, he has not recovered bowel, bladder, or lower extremity neurologic function. CONCLUSIONS: Non-traumatic spontaneous spinal subdural hematoma is a rare neurological emergency that may occur during the use of rivaroxaban in patients with non-valvular atrial fibrillation. Physicians should suspect SSDH in patients on rivaroxaban with acute onset of severe back pain and neurologic symptoms to improve the odds of a favorable outcome.