Application of Comprehensive Genomic Profiling-Based Next-Generation Sequencing Assay to Improve Cancer Care in a Developing Country.

PURPOSE: Identifying actionable oncogenic mutations have changed the therapeutic landscape in different types of tumors. This study investigated the utility of comprehensive genomic profiling (CGP), a hybrid capture-based next-generation sequencing (NGS) assay, in clinical practice in a developing country. METHODS: In this retrospective cohort study, CGP was performed on clinical samples from patients with different solid tumors recruited between December 2016 and November 2020, using hybrid capture-based genomic profiling, at the individual treating physicians' request in the clinical care for therapy decisions. Kaplan-Meier survival curves were estimated to characterize the time-to-event variables. RESULTS: Patients median age was 61 years (range: 14-87 years), and 64.7% were female. The most common histological diagnosis was lung primary tumors, with 90 patients corresponding to 52.9% of the samples (95% CI 45.4-60.4%). Actionable mutations with FDA-approved medications for specific alterations correspondent to tumoral histology were identified in 58 cases (46.4%), whereas other alterations were detected in 47 different samples (37.6%). The median overall survival was 15.5 months (95% CI 11.7 months-NR). Patients who were subjected to genomic evaluation at diagnosis reached a median overall survival of 18.3 months (95% CI 14.9 months-NR) compared to 14.1 months (95% CI 11.1 months-NR) in patients who obtained genomic evaluation after tumor progression and during standard treatment (P = .7). CONCLUSION: CGP of different types of tumors identifies clinically relevant genomic alterations that have benefited from targeted therapy and improve cancer care in a developing country to guide personalized treatment to beneficial outcomes of cancer patients.

Cáncer metastásico con primario desconocido. Una revisión / A review of metastatic cancer with unknown primary cancer

Resumen El tumor metastásico no siempre tiene un origen evidente, hasta en un tercio de los casos nunca se encuentra el tumor primario. Este artículo es una guía de los avances más recientes para mejorar el enfoque diagnóstico y el manejo del paciente con este tumor fatal y frecuente. El objetivo de este artículo, además de ser una guía, es ayudar a evitar errores comunes y graves. Uno de los errores más importantes es no tener en cuenta el papel fundamental de la confirmación histológica, pues esta puede evitar investigaciones innecesarias. En el artículo también se detallan los componentes de la evaluación estándar, la clasificación según su pronóstico y las indicaciones de la evaluación secundaria, que incluye las indicaciones de la endoscopia alta y baja, los marcadores tumorales, la tomografía por emisión de positrones (TEP), el papel que ocupa el perfil genético, la epigenética y el ácido desoxirribonucleico (ADN) viral. Adicionalmente, se indica el momento en que se debe detener la investigación. Recientemente, el tratamiento se ha modificado, lo que parece cambiar la historia de estos pacientes y de sus contrapartes con primario conocido.

Abstract Metastatic tumors do not always have obvious origins: in one third of these cases, the primary tumor is never found. This article is a guide to the most recent advances in diagnostic approaches and patient management of these fatal and frequent tumors. An additional objective of this article is to help avoid common and serious errors. One of the most important errors is not taking the fundamental role of histological confirmation into account since it can avoid unnecessary investigations. The article also details the components of a standard evaluation, classification according to prognosis and indications for a secondary evaluation. These include indications for upper and lower endoscopy, tumor markers, positron emission tomography, and the roles of genetic profiling, epigenetics and viral DNA. It also indicates the moment at which an investigation should be stopped. Recently, treatment has changed, and these changes seems to have changed the history of these patients and their counterparts with known primary tumors.

Antimicrobial resistance patterns of Enterobacteriaceae in European wild bird species admitted in a wildlife rescue centre.

Wild birds have been considered to be reservoirs of enteric human pathogens and vectors of resistance dissemination to the environment. During annual migration, they potentially play a role in the epidemiology of human associated zoonoses. The aim of this study was to investigate the frequency of isolation and antimicrobial susceptibility profiles of Enterobacteriaceae members isolated from cloacal swabs of common European wild birds. Fifty-five cloacal swabs were taken during birds' entrance evaluation in a rescue centre for injured wild birds in the Province of Messina (Sicily, Italy). All samples were examined for the presence of members of the family Enterobacteriaceae using standard methods and on the isolated strains antibiotic susceptibility testing was performed. Eighty three Enterobacteriaceae strains were isolated from raptors, waterbirds and passerines. The bacterial species isolated were: Escherichia coli, Proteus mirabilis, Proteus vulgaris, Citrobacter freundii, Enterobacter cloacae, Klebsiella oxytoca, Salmonella Typhimurium, Escherichia vulneris, Enterobacter amnigenus biogroup 2, Salmonella Duesseldorf and Hafnia alvei. The isolates showed significant frequencies of antibiotic resistance. Multiresistance to three or more groups of antibiotics also occurred. None of them have shown a phenotypic Extended Spectrum Beta Lactamase (ESBL) profile.

Supervivencia en adenocarcinoma gástrico posterior a tratamiento adyuvante tratados en el Instituto Nacional de Cancerología de Colombia durante el 2009 / Survival in gastric adenocarcinoma patients after adjuvant treatment in the Colombian National Institute of Cancerology during 2009

Objetivo: Determinar la supervivencia libre de enfermedad y global a dos años en pacientes con cáncer gástrico que recibieron tratamiento adyuvante en el Instituto Nacional de Cancerología de Colombia (INC) durante el 2009. Pacientes y métodos: De forma retrospectiva, se incluyeron pacientes con diagnóstico de adenocarcinoma gástrico o de la unión gastroesofágica que hubieran recibido quimioterapia adyuvante en el INC durante el 2009. Se describieron las características clínicas, epidemiológicas, tratamiento recibido, supervivencia global y libre de enfermedad a dos años. Resultados: Se incluyeron en el análisis a 32 pacientes. La edad media fue de 55 años. Los hombres representaron el 56,2% de los casos. El subtipo histológico predominante fue el intestinal (53,1%). El grado de invasión tumoral T3-T4 se presentó en el 81,2%, y el compromiso ganglionar, en el 84,3%, con 34,3% de los casos, con siete o más ganglios comprometidos. El 96,8% recibieron tratamiento adyuvante de acuerdo con el protocolo Macdonald. El 75% de los pacientes completaron el tratamiento. En el 12% de los casos se suspendió el tratamiento por toxicidad. El seguimiento medio de los pacientes fue de 37,8 meses. La supervivencia global y libre de enfermedad a dos años en pacientes que recibieron quimioterapia adyuvante fue de 85,18% y 77,4%, respectivamente. Conclusiones: El estudio mostró una mayor supervivencia global y libre de enfermedad para pacientes que recibieron tratamiento adyuvante en el INC frente a la encontrada en los estudios INT 0116 y MAGIC; la supervivencia es similar a estudios con población asiática.

Objective: To determine the disease free and overall survival at two years in patients with gastric cancer who received adjuvant treatment in the Colombian National Institute of Cancerology (INC) during 2009. Patients and methods: A retrospective study was conducted on patients with a diagnosis of a gastric adenocarcinoma or of the gastroesophageal junction and who had received adjuvant chemotherapy in the INC during the year 2009. The variables recorded were: clinical and epidemiological characteristics, treatment received, and the overall and disease free survival at two years. Results: A total of 32 patients (56.2% males), with a mean age of 55 years were included in the analysis. The most predominant histological sub-type was intestinal (53.1%). T3-T4 tumor invasion grade was present in 81.2%, and lymph involvement in 84.3%, with 34.3% of cases with seven or more lymph nodes involved. Almost all of them (96.8%) received adjuvant treatment according to the Macdonald protocol. Three-quarters (75%) of the patients completed the treatment. Treatment was stopped in 12% of cases due to toxicity. The mean follow-up of the patients was 37.8 months. The overall and disease free survival was at two years in the patients who received adjuvant chemotherapy was 85.18% and 77.4%, respectively. Conclusions: The study showed a greater overall and disease free survival in patients who received adjuvant treatment in the INC compared to that found in patients in the INT 0116 and MAGIC studies. The survival is similar to that in studies with Asiatic populations.

Carcinoma córtico-adrenal: revisión de la literatura / Adrenal-cortical carcinoma: a review of the literature

El carcinoma córtico-adrenal es una entidad que se presenta raras veces; su evolución es agresiva, con una alta probabilidad de recaída y una supervivencia a 5 años que no supera el 60%. El único tratamiento curativo es la cirugía, siempre y cuando esta sea completa y a los pacientes se los diagnostique en estadios tempranos. Otras intervenciones que se pueden brindar son la radioterapia, la quimioterapia y el control de secreción hormonal en el contexto adyuvante o paliativo. En algunos casos (síndrome de Cushing) el bloqueo hormonal previo a la cirugía es imperativo. En esta revisión se describen la patogénesis, el diagnóstico, los factores pronósticos y el tratamiento del carcinoma córtico-adrenal, con el propósito de guiar el enfoque diagnóstico y el tratamiento.

Adrenal-cortical carcinoma is a rarely occurring entity; it evolves aggressively, has a high probability of relapse and survival at 5 years does not surpass 60%. Surgery provides the only curative treatment, but only when it is complete and carried out on patients with early-stage diagnosis. Additional treatments that may be used include radiotherapy, chemotherapy and control of hormonal secretion in an adjuvant or palliative context. In some cases (Cushing´s syndrome), it is imperative to provide hormonal block before surgery. The pathogenesis, diagnosis, prognostic factors and treatment of adrenal-cortical carcinoma are described in this review in order to sharpen the focus on diagnosis and treatment.

Tratamiento oncológico del angiosarcoma cutáneo: revisión de la literatura / Oncologic treatment of cutaneous angiosarcoma: review of the literature

El hemangiosarcoma cutáneo es una enfermedad maligna rara de origen vascular, y corresponde a menos del 1% de todas las malignidades y al 2% de todos los sarcomas de tejidos blandos. Su presentación usual es en el rostro y en la región del cuero cabelludo; al momento de diagnosticarse ya es una enfermedad avanzada. Afecta a menudo al anciano del género masculino y de raza blanca. El tratamiento oncológico se basa en la resección quirúrgica, la radioterapia y la quimioterapia, dado el alto riesgo tanto de recaída local como de diseminación hematológica con intención paliativa. Las tasas de control locorregional a 5 años son, aproximadamente, del 40% al 50%, las tasas de supervivencia libre de metástasis a distancia a 5 años están en el rango del 20% al 40%, y las tasas de supervivencia a 5 años se encuentran entre el 10% y el 30%.

Cutaneous hemangiosarcoma is a rare malignant disease of vascular origin which accounts for less than 1% of all malignancies and 2% of all soft tissue sarcomas. It most frequently affects elderly white males, and is usually found on the face and scalp; at diagnosis it tends to be advanced. Oncologic treatment is based upon surgical resection, radiotherapy and chemotherapy due to the high risk of local relapse as well as to hematologic dissemination with palliative intention. Loco-regional control rates at 5 years range from 40% to 50%, metastasis-free survival rates at 5 years are from 20% to 40%, and survival rates at 5 years from 10% to 30%.