Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.

PURPOSE: To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United States. METHODS: In this cross-sectional study, unrelated individuals with a personal/family history suggestive of HBOC who received clinician-ordered germline multigene sequencing were grouped according to the location of the ordering physician: group A, Mexico, Central America, and the Caribbean; group B, South America; and group C, United States with individuals who self-reported Hispanic ethnicity. Relatives who underwent cascade testing were analyzed separately. RESULTS: Among 24,075 unrelated probands across all regions, most were female (94.9%) and reported a personal history suggestive of HBOC (range, 65.0%-80.6%); the mean age at testing was 49.1 ± 13.1 years. The average number of genes analyzed per patient was highest in group A (A 63 ± 28, B 56 ± 29, and C 40 ± 28). Between 9.1% and 18.7% of patients had pathogenic germline variants in HBOC genes (highest yield in group A), with the majority associated with high HBOC risk. Compared with US Hispanics individuals the overall yield was significantly higher in both Latin American regions (A v C P = 1.64×10-9, B v C P < 2.2×10-16). Rates of variants of uncertain significance were similar across all three regions (33.7%-42.6%). Cascade testing uptake was low in all regions (A 6.6%, B 4.5%, and C 1.9%). CONCLUSION: This study highlights the importance of multigene panel testing in Latin American individuals with newly diagnosed or history of HBOC, who can benefit from medical management changes including targeted therapies, eligibility to clinical trials, risk-reducing surgeries, surveillance and prevention of secondary malignancy, and genetic counseling and subsequent cascade testing of at-risk relatives.

Breast Implant-associated Anaplastic Large Cell Lymphoma in Colombia: Report of a Multidisciplinary National Registry.

An estimated 43,390 breast augmentation surgeries (86,780 implants) and 1486 breast implant reconstructions are performed annually in Colombia, representing the second-most breast surgery destination in South America, the fourth in the western hemisphere, and the fifth country worldwide. No previous reports have evaluated the incidence of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) epidemiology or outcomes in a Hispanic population. Published data on the incidence of this disease in Colombia are unknown; therefore, a National Joint Multidisciplinary Committee was developed between the Colombian scientific societies of Mastology, Plastic Surgery, Hemato-Oncology, and the Invima (The National Food and Drug Surveillance Institute) to track national cases of BIA-ALCL. MATERIALS AND METHODS: We performed a retrospective review (survey-based study) of historical cases since 2011-2019, and a prospective collection of all patients with a confirmed World Health Organization diagnosis of BIA-ALCL identified in a newly established National Registry of BIA-ALCL. The trial was approved by Institutional Review Board (IRB). RESULTS: Eighteen cases of BIA-ALCL were identified in Colombia between 2011 and 2019. Hundred percent developed as sequelae of textured implants. Six patients (33.3%) presented either a peri-implant capsule mass or axillary lymph node involvement. Seven (38.9%) required adjuvant chemotherapy most commonly with CHOP regimen. Different brands of implants were associated with our cases. One death (5.6%) was attributed to BIA-ALCL, and one (5.6%) case displayed with relapsed with bone marrow involvement requiring a bone marrow transplantation. Six cases (33.3%) were identified with advanced stage (IIB-IV). Disease-free survival of 92.3% was achieved at 30.8-month follow-up. CONCLUSIONS: Colombia has one of the highest volumes of breast surgery and use of textured surface breast implants in the world. This study is the initial report of an implant registry in South America. A high proportion of advanced disease may be a consequence of delayed presentation, lack of disease awareness, and timely access to tertiary cancer centers for diagnosis and treatment. Brands other than Allergan and Mentor were found to be associated with BIA-ALCL in our study.

[Association between delayed diagnosis and breast cancer in advanced clinical stage at the time of consultation in four oncology centers in Medellin- Colombia, 2017. Cross-sectional study].

OBJECTIVE: To determine the association between delayed diagnosis and advanced clinical stage breast cancer, and to explore the factors that influence this delay. METHODS: Cross-sectional study of women over 18 years of age with breast cancer who attended 4 oncology centers in Medellín, Colombia, in 2017. The "Breast Cancer Delay Questionnaire" which includes sociodemographic and clinical variables as well as time intervals was used. Crude and adjusted odds ratio (OR) were estimated, using advanced clinical stage as outcome and delayed diagnosis as exposure. RESULTS: 42 patients were included. The median time interval between the identification of the problem and the diagnostic biopsy was 104.5 days; between the identification of the problem and the first medical visit, 20 days; and between the first visit and the diagnostic biopsy, 53 days. Of all the cases, 52.1 % were diagnosed at an advanced stage. An association was found between delayed diagnosis and advanced clinical stage (OR = 2.15 95 % CI 1.21-3.79). Age above 40 was found to be a protective factor against having an advanced-stage lesion (OR = 0.35; 95 % CI: 0.14-0.83). Delayed diagnosis was associated with affiliation to the government subsidized health system (OR = 9.67; 95 % CI 2.76- 33.9) and age over 40 years (OR = 2.75; 95 % CI1.16-6.53). CONCLUSIONS: Patient education is required in order to ensure adherence to early screening programs or timely consultation whenever a sign or symptom is identified, thus allowing diagnosis at an early stage of the disease. Moreover, prospective studies are needed in order to identify factors associated with delays in treatment after the diagnosis of breast cancer, and to assess interventions designed to reduce delays in the care of this form of cancer.

TITULO: ASOCIACIÓN ENTRE RETRASO EN EL DIAGNÓSTICO Y ESTADIO CLÍNICO AVANZADO DE CÁNCER DE MAMA AL MOMENTO DE LA CONSULTA EN CUATRO CENTROS ONCOLÓGICOS DE MEDELLÍN, COLOMBIA, 2017. ESTUDIO DE CORTE TRANSVERSAL. OBJETIVO: Establecer la asociación entre el retraso en el diagnóstico de cáncer de mama con un estadio clínico avanzado y explorar factores que influyen en dicho retraso. METODOS: Estudio de corte transversal con mujeres mayores de 18 años con cáncer de mama que consultaron en cuatro centros oncológicos de Medellín, Colombia, en 2017. Se usó el Breast Cancer Delay Questionnaire que incluye variables sociodemográficas, clínicas y de tiempos de atención. Se estimó el odds ratio (OR) crudo y ajustado por medio de una regresión logística con el estadio clínico avanzado como desenlace y el retraso diagnóstico como exposición. RESULTADOS: Se incluyeron 242 pacientes. La mediana del tiempo entre identificar el problema y la biopsia diagnóstica fue 104,5 días; entre identificar el problema y la primera consulta médica, 20 días, y de la primera consulta a la biopsia diagnóstica fue de 53 días. El 52,1 % se diagnosticó en estadio avanzado. Hubo asociación del retraso diagnóstico con estadio clínico avanzado (OR = 2,15; IC 95 %: 1,21-3,79). Se encontró que la edad mayor a 40 años es un factor protector contra una lesión avanzada (OR = 0,35; IC 95 %: 0,14-0,83). El retraso diagnóstico se asoció con estar afiliada al régimen subsidiado por el Estado (OR = 9,67; IC 95 %: 2,76-33,9) y tener edad mayor a 40 años (OR = 2,75; IC 95 %: 1,16-6,53). CONCLUSIONES: Se requieren intervenciones educativas en las pacientes para adherir a los programas de tamización temprana o la consulta oportuna al identificar un signo o síntoma, para lograr un diagnóstico en estadios tempranos de la enfermedad. Además, se requieren estudios prospectivos para determinar los factores relacionados con la demora en recibir el tratamiento una vez diagnosticado el cáncer de seno y evaluar las intervenciones destinadas a disminuir las dilaciones en la atención de este cáncer.

Association between delayed diagnosis and breast cancer in advanced clinical stage at the time of consultation in four oncology centers in Medellin- Colombia, 2017. Cross-sectional study / Asociación entre retraso en el diagnóstico y estadio clínico avanzado de cáncer de mama al momento de la consulta en cuatro centros oncológicos de medellín, colombia, 2017. estudio de corte transversal

RESUMEN Objetivo: establecer la asociación entre el retraso en el diagnóstico de cáncer de mama con un estadio clínico avanzado y explorar factores que influyen en dicho retraso. Materiales y métodos: estudio de corte transversal con mujeres mayores de 18 años con cáncer de mama que consultaron en cuatro centros oncológicos de Medellín, Colombia, en 2017. Se usó el Breast Cancer Delay Questionnaire que incluye variables sociodemográficas, clínicas y de tiempos de atención. Se estimó el odds ratio (OR) crudo y ajustado por medio de una regresión logística con el estadio clínico avanzado como desenlace y el retraso diagnóstico como exposición. Resultados: se incluyeron 242 pacientes. La mediana del tiempo entre identificar el problema y la biopsia diagnóstica fue 104,5 días; entre identificar el problema y la primera consulta médica, 20 días, y de la primera consulta a la biopsia diagnóstica fue de 53 días. El 52,1 % se diagnosticó en estadio avanzado. Hubo asociación del retraso diagnóstico con estadio clínico avanzado (OR = 2,15; IC 95 %: 1,21-3,79). Se encontró que la edad mayor a 40 años es un factor protector contra una lesión avanzada (OR = 0,35; IC 95 %: 0,14-0,83). El retraso diagnóstico se asoció con estar afiliada al régimen subsidiado por el Estado (OR = 9,67; IC 95 %: 2,76-33,9) y tener edad mayor a 40 años (OR = 2,75; IC 95 %: 1,16-6,53). Conclusión: se requieren intervenciones educativas en las pacientes para adherir a los programas de tamización temprana o la consulta oportuna al identificar un signo o síntoma, para lograr un diagnóstico en estadios tempranos de la enfermedad. Además, se requieren estudios prospectivos para determinar los factores relacionados con la demora en recibir el tratamiento una vez diagnosticado el cáncer de seno y evaluar las intervenciones destinadas a disminuir las dilaciones en la atención de este cáncer.

ABSTRACT Objective: To determine the association between delayed diagnosis and advanced clinical stage breast cancer, and to explore the factors that influence this delay. Materials and methods: Cross-sectional study of women over 18 years of age with breast cancer who attended 4 oncology centers in Medellín, Colombia, in 2017. The "Breast Cancer Delay Questionnaire" which includes sociodemographic and clinical variables as well as time intervals was used. Crude and adjusted odds ratio (OR) were estimated, using advanced clinical stage as outcome and delayed diagnosis as exposure. Results: 242 patients were included. The median time interval between the identification of the problem and the diagnostic biopsy was 104.5 days; between the identification of the problem and the first medical visit, 20 days; and between the first visit and the diagnostic biopsy, 53 days. Of all the cases, 52.1 % were diagnosed at an advanced stage. An association was found between delayed diagnosis and advanced clinical stage (OR = 2.15 95 % CI 1.21-3.79). Age above 40 was found to be a protective factor against having an advanced-stage lesion (OR = 0.35; 95 % CI: 0.14-0.83). Delayed diagnosis was associated with affiliation to the government subsidized health system (OR = 9.67; 95 % CI 2.76- 33.9) and age over 40 years (OR = 2.75; 95 % CI: 1.16-6.53). Conclusion: Patient education is required in order to ensure adherence to early screening programs or timely consultation whenever a sign or symptom is identified, thus allowing diagnosis at an early stage of the disease. Moreover, prospective studies are needed in order to identify factors associated with delays in treatment after the diagnosis of breast cancer, and to assess interventions designed to reduce delays in the care of this form of cancer.

[Survival difference due to types of health coverage in breast cancer patients treated at a specialized cancer center in Medellín, Colombia]. / Diferencias en supervivencia debidas al aseguramiento en salud en pacientes con cáncer de mama atendidas en un centro oncológico de referencia en Medellín, Colombia.

The study aimed to estimate the effect of health insurance on overall survival and disease-free survival in breast cancer patients undergoing surgery at the Las Américas Oncology Institute in Medellín, Colombia, with data from the institutional registry. The variables were compared between subsidized coverage and contributive coverage with chi-squared test (χ2) or Student t test, Kaplan-Meier, and log-rank test. The target variable was adjusted with Cox regression. There were 2,732 patients with a median follow-up of 36 months. Ten percent of the women with contributive coverage died, compared to 23% of the subsidized coverage group. There were differences in time-to-treatment (contributive group with 52 days versus subsidized group with 112 days, p < 0.05). Disease-free survival and overall survival were better in women with contributive coverage compared to those with subsidized coverage (p < 0.05), and overall survival varied according to tumor and treatment variables. Overall survival and disease-free survival and early time-to-diagnosis and treatment were better in patients with contributive coverage compared to those with subsidized coverage.

El objetivo fue estimar el efecto del aseguramiento en salud sobre la supervivencia global y libre de enfermedad en pacientes con cáncer de mama. La muestra se compuso de mujeres operadas en el Instituto de Cancerología, Medellín, Colombia, con datos del registro institucional. Las variables se compararon entre régimen subsidiado y contributivo com chi cuadrado test (χ2) o test t de Student, método de Kaplan-Meier y prueba de rangos logarítmicos (log-rank test). La variable de interés se ajustó con una regresión de Cox. Se incluyeron 2.732 pacientes con mediana de seguimiento de 36 meses. Del régimen contributivo murieron el 10% y del régimen subsidiado murieron 23%. Hubo diferencias en tiempos de acceso a tratamiento (régimen contributivo: 52 vs. régimen subsidiado: 112 días, p < 0,05). Supervivencia libre de enfermedad y supervivencia global fueron mejores en régimen contributivo que en régimen subsidiado (p < 0,05); supervivencia global depende de variables del tumor y del tratamiento. Supervivencia global y supervivencia libre de enfermedad y tiempos de acceso para atención y diagnóstico en etapa temprana fueron mejores en régimen contributivo que en régimen subsidiado.

O objetivo deste trabalho foi estimar o efeito do seguro de saúde sobre a sobrevivência global e livre de doença em pacientes com câncer de mama. A amostra foi composta por mulheres operadas no Instituto de Cancerologia Las Américas em Medellín, Colombia, com dados do registro institucional. As variáveis foram comparadas entre o regime subsidiado e contributivo com teste do qui-quadrado (χ2) ou teste t de Student, método de Kaplan-Meier e log-rank test. A variável de interesse foi ajustada por meio de uma regressão de Cox. Foram incluídas 2.732 pacientes durante um período médio de acompanhamento de 36 meses. Do regime contributivo morreram 10% das mulheres e do regime subsidiado morreram 23%. Houve diferenças nos tempos de acesso ao tratamento (regime contributivo: 52 vs. regime subsidiado: 112 dias; p < 0,05). Sobrevivência livre de doença e sobrevivência global foram melhores em regime contributivo do que em regime subsidiado (p < 0,05); sobrevivência global depende de variáveis do tumor e do tratamento. Sobrevivência global e sobrevivência livre de doença e os tempos de acesso para atenção e diagnóstico no estágio inicial foram melhores em regime contributivo do que em regime subsidiado.

Diferencias en supervivencia debidas al aseguramiento en salud en pacientes con cáncer de mama atendidas en un centro oncológico de referencia en Medellín, Colombia / Survival difference due to types of health coverage in breast cancer patients treated at a specialized cancer center in Medellín, Colombia / Diferenças em sobrevivência devidas ao seguro de saúde em pacientes com câncer de mama atendidas em um centro ontológico de referência em Medellín, Colômbia

Resumen: El objetivo fue estimar el efecto del aseguramiento en salud sobre la supervivencia global y libre de enfermedad en pacientes con cáncer de mama. La muestra se compuso de mujeres operadas en el Instituto de Cancerología, Medellín, Colombia, con datos del registro institucional. Las variables se compararon entre régimen subsidiado y contributivo com chi cuadrado test (χ2) o test t de Student, método de Kaplan-Meier y prueba de rangos logarítmicos (log-rank test). La variable de interés se ajustó con una regresión de Cox. Se incluyeron 2.732 pacientes con mediana de seguimiento de 36 meses. Del régimen contributivo murieron el 10% y del régimen subsidiado murieron 23%. Hubo diferencias en tiempos de acceso a tratamiento (régimen contributivo: 52 vs. régimen subsidiado: 112 días, p < 0,05). Supervivencia libre de enfermedad y supervivencia global fueron mejores en régimen contributivo que en régimen subsidiado (p < 0,05); supervivencia global depende de variables del tumor y del tratamiento. Supervivencia global y supervivencia libre de enfermedad y tiempos de acceso para atención y diagnóstico en etapa temprana fueron mejores en régimen contributivo que en régimen subsidiado.

Abstract: The study aimed to estimate the effect of health insurance on overall survival and disease-free survival in breast cancer patients undergoing surgery at the Las Américas Oncology Institute in Medellín, Colombia, with data from the institutional registry. The variables were compared between subsidized coverage and contributive coverage with chi-squared test (χ2) or Student t test, Kaplan-Meier, and log-rank test. The target variable was adjusted with Cox regression. There were 2,732 patients with a median follow-up of 36 months. Ten percent of the women with contributive coverage died, compared to 23% of the subsidized coverage group. There were differences in time-to-treatment (contributive group with 52 days versus subsidized group with 112 days, p < 0.05). Disease-free survival and overall survival were better in women with contributive coverage compared to those with subsidized coverage (p < 0.05), and overall survival varied according to tumor and treatment variables. Overall survival and disease-free survival and early time-to-diagnosis and treatment were better in patients with contributive coverage compared to those with subsidized coverage.

Resumo: O objetivo deste trabalho foi estimar o efeito do seguro de saúde sobre a sobrevivência global e livre de doença em pacientes com câncer de mama. A amostra foi composta por mulheres operadas no Instituto de Cancerologia Las Américas em Medellín, Colombia, com dados do registro institucional. As variáveis foram comparadas entre o regime subsidiado e contributivo com teste do qui-quadrado (χ2) ou teste t de Student, método de Kaplan-Meier e log-rank test. A variável de interesse foi ajustada por meio de uma regressão de Cox. Foram incluídas 2.732 pacientes durante um período médio de acompanhamento de 36 meses. Do regime contributivo morreram 10% das mulheres e do regime subsidiado morreram 23%. Houve diferenças nos tempos de acesso ao tratamento (regime contributivo: 52 vs. regime subsidiado: 112 dias; p < 0,05). Sobrevivência livre de doença e sobrevivência global foram melhores em regime contributivo do que em regime subsidiado (p < 0,05); sobrevivência global depende de variáveis do tumor e do tratamento. Sobrevivência global e sobrevivência livre de doença e os tempos de acesso para atenção e diagnóstico no estágio inicial foram melhores em regime contributivo do que em regime subsidiado.

Imágenes diagnósticas en patología mamaria / Diagnostic imaging in breast pathology

El uso de las imágenes diágnósticas en mama se ha convertido en una hemorramienta imprescindible para el especialista que maneja la patología mamaria. En la actualidad, las tres herramientas que se utilizan son: mamografía, ecografía o ultrasonido mamario y resonancia nuclear magnética; sin embargo, se encuentran en fase de estudio nuevas tecnologías como la elastografía y tomosíntesis (mamografía digital 3D). En el presente artículo se presentan los elementos más relevantes en estas ayudas diagnósticas, el léxico usado en los reportes y las indicaciones para cada una de las técnicas con el objetivo de actualizar los conocimientos y dar un uso adecuado de las herramientas diagnósticas.

Abstract: Breast imaging diagnostic have become an indispensable tool for the specialist in breast disease.Currently, the diagnostic tools are: mammography, breast ultrasound and magnetic resonance; but they are under study new technologies such as elastography and tomosynthesis (3D digital mammography). This article presented the most important elements in these diagnostic tools, terminology used in reports and indications for each of these techniques.