Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.

BACKGROUND: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53. This gene codes for the P53 protein, a crucial player in genomic stability, which functions as a tumor suppressor gene. Individuals with LFS frequently develop multiple primary tumors at a young age, such as soft tissue sarcomas, breast cancer, and brain tumors. CASE PRESENTATION: A 38 years-old female with a history of femur osteosarcoma, ductal carcinoma of the breast, high-grade breast sarcoma, pleomorphic sarcoma of the left upper limb, infiltrating lobular carcinoma of the breast, gastric adenocarcinoma, leiomyosarcoma of the right upper limb, and high-grade pleomorphic renal sarcoma. Complete molecular sequencing of the TP53 gene showed c.586 C > T (p.R196X) in exon 6, which is a nonsense mutation that produces a shorter and malfunctioning P53. Family history includes advanced father's age at the time of conception (75 years), which has been associated with an increased risk of de novo germline mutations. The patient had seven paternal half-siblings with no cancer history. The patient received multiple treatments including surgery, systemic therapy, and radiotherapy, but died at the age of 38. CONCLUSIONS: Advanced paternal age is a risk factor to consider when hereditary cancer syndrome is suspected. Early detection of hereditary cancer syndromes and their multi-disciplinary surveillance and treatment is important to improve clinical outcomes for these patients. Further investigation of the relationship between the pathogenic variant of TP53 and its phenotype may guide the stratification of surveillance and treatment.

Survival of patients living with HIV and cancer in Cali, Colombia.

Background: People living with HIV have an increased risk of cancer compared to the general population. However, with the increase in life expectancy and advances in antiretroviral therapy, the survival of patients with cancer and HIV has changed. Objective: To determine the survival of patients living with HIV and cancer in Cali, Colombia. Methods: A retrospective cohort study was conducted at the Fundación Valle del Lili, Cali, Colombia. Data from the HIV database was crossed with data from the hospital and population-based cancer registries between 2011-2019. Patients <18 years, limited available clinical information on the diagnosis and treatment of HIV and cancer, and non-oncological tumor diagnosis were excluded. Results: A total of 173 patients were included. The frequencies of AIDS-defining neoplasms were: Non-Hodgkin lymphoma (42.8%), Kaposi sarcoma (27.8%), and cervical cancer (4.6%). Overall survival was 76.4% (95% CI 68.9-82.3) at five years. Poorer survival was found in patients with AIDS-defining infections (56.9% vs. 77.8%, p=0.027) and non-AIDS-defining infections (57.8% vs. 84.2%, p=0.013), while there was better survival in patients who received antiretroviral therapy (65.9% vs. 17.9%, p=0.021) and oncological treatment (66.7% vs. 35.4%, p<0.001). The presence of non-AIDS-defining infections increases the risk of dying (HR = 2.39, 95% CI 1.05-5.46, p=0.038), while oncological treatment decreases it (HR = 0.33, 95% CI 0.14-0.80, p=0.014). Conclusions: In people living with HIV, Non-Hodgkin lymphoma and Kaposi sarcoma are the most common neoplasms. Factors such as AIDS-associated and non-AIDS-associated infections have been identified as determinants of survival. Cancer treatment seems to improve survival.

Antecedentes: Las personas que viven con VIH tienen un riesgo mayor de cáncer en comparación con la población general. Sin embargo, con el aumento de la esperanza de vida y los avances en la terapia antirretroviral, la supervivencia de los pacientes con cáncer y VIH ha cambiado. Objetivo: Determinar la supervivencia de los pacientes que viven con VIH y cáncer en Cali, Colombia. Métodos: Se realizó un estudio de cohorte retrospectivo en la Fundación Valle del Lili, Cali, Colombia. Los datos de la base de datos de VIH se cruzaron con los datos de los registros de cáncer de base hospitalaria y poblacional entre 2011-2019. Se excluyeron los pacientes <18 años, con información clínica limitada disponible sobre el diagnóstico y tratamiento del VIH y el cáncer y los casos con diagnóstico de tumor no oncológico. Resultados: Se incluyeron un total de 173 pacientes. Las frecuencias de neoplasias definitorias de SIDA fueron: linfoma no Hodgkin (42.8%), sarcoma de Kaposi (27.8%) y cáncer cervical (4.6%). La supervivencia global fue del 76.4% (IC 95% 68.9-82.3) a los cinco años. Se encontró una peor supervivencia en pacientes con infecciones definitorias de SIDA (56.9% vs. 77.8%, p=0.027) e infecciones no definitorias de SIDA (57.8% vs. 84.2%, p=0.013), mientras que hubo una mejor supervivencia en pacientes que recibieron terapia antirretroviral (65.9% vs. 17.9%, p=0.021) y tratamiento oncológico (66.7% vs. 35.4%, p<0.001). La presencia de infecciones no definitorias de SIDA aumentó el riesgo de morir (HR = 2.39, IC 95% 1.05-5.46, p=0.038), mientras que el tratamiento oncológico lo disminuyó (HR = 0.33, IC 95% 0.14-0.80, p=0.014). Conclusiones: En las personas que viven con VIH, el linfoma no Hodgkin y el sarcoma de Kaposi son las neoplasias más comunes. Se han identificado factores como las infecciones asociadas al SIDA y las infecciones no asociadas al SIDA como determinantes de la supervivencia. El tratamiento del cáncer parece mejorar la supervivencia.

Survival of patients living with HIV and cancer in Cali, Colombia

Background: People living with HIV have an increased risk of cancer compared to the general population. However, with the increase in life expectancy and advances in antiretroviral therapy, the survival of patients with cancer and HIV has changed. Objective: To determine the survival of patients living with HIV and cancer in Cali, Colombia Methods: A retrospective cohort study was conducted at the Fundación Valle del Lili, Cali, Colombia. Data from the HIV database was crossed with data from the hospital and population-based cancer registries between 2011-2019. Patients <18 years, limited available clinical information on the diagnosis and treatment of HIV and cancer, and non-oncological tumor diagnosis were excluded. Results: A total of 173 patients were included. The frequencies of AIDS-defining neoplasms were: Non-Hodgkin lymphoma (42.8%), Kaposi sarcoma (27.8%), and cervical cancer (4.6%). Overall survival was 76.4% (95% CI 68.9-82.3) at five years. Poorer survival was found in patients with AIDS-defining infections (56.9% vs. 77.8%, p=0.027) and non-AIDS-defining infections (57.8% vs. 84.2%, p=0.013), while there was better survival in patients who received antiretroviral therapy (65.9% vs. 17.9%, p=0.021) and oncological treatment (66.7% vs. 35.4%, p<0.001). The presence of non-AIDS-defining infections increases the risk of dying (HR = 2.39, 95% CI 1.05-5.46, p=0.038), while oncological treatment decreases it (HR = 0.33, 95% CI 0.14-0.80, p=0.014). Conclusions: In people living with HIV, Non-Hodgkin lymphoma and Kaposi sarcoma are the most common neoplasms. Factors such as AIDS-associated and non-AIDS-associated infections have been identified as determinants of survival. Cancer treatment seems to improve survival.

Antecedentes: Las personas que viven con VIH tienen un riesgo mayor de cáncer en comparación con la población general. Sin embargo, con el aumento de la esperanza de vida y los avances en la terapia antirretroviral, la supervivencia de los pacientes con cáncer y VIH ha cambiado. Objetivo: Determinar la supervivencia de los pacientes que viven con VIH y cáncer en Cali, Colombia. Métodos: Se realizó un estudio de cohorte retrospectivo en la Fundación Valle del Lili, Cali, Colombia. Los datos de la base de datos de VIH se cruzaron con los datos de los registros de cáncer de base hospitalaria y poblacional entre 2011-2019. Se excluyeron los pacientes <18 años, con información clínica limitada disponible sobre el diagnóstico y tratamiento del VIH y el cáncer y los casos con diagnóstico de tumor no oncológico. Resultados: Se incluyeron un total de 173 pacientes. Las frecuencias de neoplasias definitorias de SIDA fueron: linfoma no Hodgkin (42.8%), sarcoma de Kaposi (27.8%) y cáncer cervical (4.6%). La supervivencia global fue del 76.4% (IC 95% 68.9-82.3) a los cinco años. Se encontró una peor supervivencia en pacientes con infecciones definitorias de SIDA (56.9% vs. 77.8%, p=0.027) e infecciones no definitorias de SIDA (57.8% vs. 84.2%, p=0.013), mientras que hubo una mejor supervivencia en pacientes que recibieron terapia antirretroviral (65.9% vs. 17.9%, p=0.021) y tratamiento oncológico (66.7% vs. 35.4%, p<0.001). La presencia de infecciones no definitorias de SIDA aumentó el riesgo de morir (HR = 2.39, IC 95% 1.05-5.46, p=0.038), mientras que el tratamiento oncológico lo disminuyó (HR = 0.33, IC 95% 0.14-0.80, p=0.014). Conclusiones: En las personas que viven con VIH, el linfoma no Hodgkin y el sarcoma de Kaposi son las neoplasias más comunes. Se han identificado factores como las infecciones asociadas al SIDA y las infecciones no asociadas al SIDA como determinantes de la supervivencia. El tratamiento del cáncer parece mejorar la supervivencia.

Challenges in the care of Ewing's sarcoma in a Jehovah's Witness patient / Desafíos en el manejo del sarcoma de Ewing en una paciente testigo de Jehová

Ewing's sarcoma is a bone and soft tissue neoplasm, whose management is related to hematological toxicity. This aspect represents a medical and ethical challenge in Jehovah's Witnesses patients, who, due to their religious beliefs, reject the blood component transfusion, with the risk of discontinuing chemotherapy or using suboptimal doses. We present the case of a 34-year-old Colombian woman, Jehovah's Witness, diagnosed with Ewing's sarcoma with clinical stage IIB (T1N0M0) in the left maxillary and mandibular regions, treated with chemotherapy, who presented a hemoglobin nadir of up to 4.5 g/dL, and surgical indication as part of the treatment. In these patients, the transfusion decision has ethical implications that require therapeutic alternatives and a multidisciplinary approach.

El sarcoma de Ewing es una neoplasia de hueso y tejidos blandos, cuyo manejo se relaciona con toxicidad hematológica. Este aspecto representa un desafío médico y ético en los pacientes testigos de Jehová quienes, por sus creencias religiosas, rechazan la aplicación de hemoderivados, con riesgo de que se descontinúe la quimioterapia o de que se utilicen dosis subóptimas. Se presenta el caso de una mujer colombiana de 34 años, testigo de Jehová, con diagnóstico de sarcoma de Ewing con estadificación clínica IIB (T1N0M0) en las regiones maxilar y mandibular izquierdas, tratada con  quimioterapia, quien presentó un valor mínimo de hemoglobina de hasta 4,5 g/dl y tuvo indicación quirúrgica como parte del tratamiento. En estos pacientes, la decisión de practicar una transfusión comprende implicaciones éticas que requieren alternativas terapéuticas y un abordaje multidisciplinario.

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas.

Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of the widely known syndromes associated with MUTYH mutations is MUTYH-associated polyposis, a form of familial colorectal cancer syndrome. MUTYH may also be a driver in other familial cancer syndromes, as well as breast cancer and spontaneous cancer cases. However, some controversies about the role of these alterations in oncogenesis remain, especially when affected in a heterozygous way. Most available data on MUTYH mutations are on Caucasian patients. Material and Methods: We analyzed a small cohort of non-Caucasian, Colombian cancer patients with MUTYH germline heterozygous mutations, clinical features suggestive of familial cancer, and extensive genetic studies with no other mutations and without MUTYH-associated polyposis. Conclusion: With this case series, we intended to provide important data for the understanding of MUTYH as a possible driver of familial cancer, even when only heterozygous mutations are found.

Addressing the unmet needs of patients with BRAF-mutated melanoma in Latin America: Expert perspective.

Melanoma represents an increasing public health burden with extensive unmet needs in Latin America (LA). A mutation in the BRAF gene is present in approximately 50% of all melanomas in White populations and is a target of precision medicine, with the potential to dramatically improve patient outcomes. Thus, increased access to BRAF testing and therapy is LA must be explored. At a multi-day conference, a panel of Latin American experts in oncology and dermatology were provided with questions to address the barriers limiting access to testing for BRAF mutation in patients with melanoma in LA, who may be eligible for targeted therapy to improve their prognosis. During the conference, responses were discussed and edited until a consensus on addressing the barriers was achieved. Identified challenges included ignorance of BRAF-status implications, limited human and infrastructural resources, affordability and reimbursement, fragmented care delivery, pitfalls in the sample journey, and lack of local data. Despite the clear benefits of targeted therapies for BRAF-mutated melanoma in other regions, there is no clear path to prepare LA for a sustainable personalized medicine approach to this disease. Due to melanoma's time-sensitive nature, LA must aim to provide early access to BRAF testing and consider mutational status within treatment decision making. To this end, recommendations are provided and include establishing multidisciplinary teams and melanoma referral centers and improving access to diagnosis and treatment.

Gastric adenocarcinoma burden, trends and survival in Cali, Colombia: A retrospective cohort study.

Background: Gastric adenocarcinoma (GA) has changed in recent decades. Cancer estimates are often calculated from population-based cancer registries, which lack valuable information to guide decision-making (clinical outcomes). We describe the trends in clinical practice for GA using a hospital-based cancer registry over a timespan of 15 years. Methods: A retrospective cohort study was conducted. Data were gathered from adults diagnosed and treated for GA at Fundación Valle del Lili (FVL), between 2000 and 2014, from the hospital's own cancer registry and crossed with Cali's Cancer Registry. Additional data were obtained directly from clinical records, pathology reports and the clinical laboratory. Patients younger than 18 years and those for whom limited information was available in the medical history were excluded. A survival analysis was conducted using Kaplan-Meier method. Results: A total of 500 patients met eligibility criteria. Median age was 64 years (IQR: 54-74 years), 39.8% were female, 22.2% were at an early stage, 32.2% had a locally advanced disease, and 29% a metastatic disease, 69% had intestinal subtype, 48.6% had a positive H. pylori test, 85.2% had a distal lesion, 62% underwent gastrectomy, 60.6% lymphadenectomy, and 40.6% received chemotherapy. Survival at 5 years for all cases was 39.9% (CI 95% 35.3-44.5). Survival decreased over time in all groups and was lower in age-groups <39 and 60-79 with either locally advanced or metastatic disease. Prognostic factors that were significant in the Cox proportional-hazards model were late stages of the tumor (locally advanced: HR=2.52; metastatic: HR=4.17), diffuse subtype (HR=1.40), gastrectomy (subtotal: HR=0.42; total: 0.44) and palliative chemotherapy (HR=0.61). Conclusions: The treatment of GA has changed in recent decades. GA survival was associated with clinical staging, diffuse subtype, gastrectomy and palliative chemotherapy. These findings must be interpreted in the context of a hospital-based study.

Innovative Methodology for Strengthening a Multidisciplinary Team Approach in Cities in Low- and Middle-Income Countries.

PURPOSE: Delivering high-quality cancer care to patients through a multidisciplinary team (MDT) care approach remains a challenge, particularly in low- and middle-income countries characterized by fragmented health systems and limited human resources for cancer care. City Cancer Challenge (C/Can) is supporting cities in low- and middle-income countries as they work to improve access to equitable quality cancer care. C/Can has developed an innovative methodology to address the MDT gap, piloted in four cities-Asunciòn, Cali, Kumasi, and Yangon. METHODS: Collaborating with a network of partners, C/Can and ASCO have developed a package of technical cooperation support focusing on two priority areas that have emerged as core needs: first developing consensus-based, city-wide patient management guidelines for the most common cancers and second, building capacity for the implementation of MDTs in institutions providing cancer care in the city. RESULTS: The real-time application of C/Can's MDT approach in Cali and Asuncion underlined the importance of engaging the right stakeholders early on and embedding MDT guidelines in local and national regulatory frameworks to achieve their sustainable uptake. The results in Cali and Asuncion were essential for informing the process in Yangon, asserting the clear benefits of city-to-city knowledge exchange. Finally, the global COVID-19 pandemic prompted a rapid adaptation of the methodology from an in-person to virtual format; the unexpected success of the virtual program in Kumasi has led to its application in subsequent C/Can cities. CONCLUSION: The application of C/Can's methodology in this first set of cities has reinforced not only the importance of both resource appropriate guidelines and a highly trained health workforce but also the need for commitment to work across institutions and disciplines.

Methods and implementation of a Hospital-Based Cancer Registry in a major city in a low-to middle-income country: the case of Cali, Colombia.

PURPOSE: To describe our experience upon developing and implementing a hospital-based cancer registry (HBCR) in a quaternary-level of care private non-profit academic medical center in Cali, Colombia. METHODS: HBCRs capture, in a given institution, every single patient with a confirmed malignancy. In this study, all cases evaluated between 2014 and 2018 were included in the HBCR. In compliance with the International Agency for Research on Cancer recommendations, cases were classified as analytic or non-analytic. Data derived from an exhaustive selection of patients was stored in a computing platform owned by the institution, meeting the 2016 Facility Oncology Registry Data Standards recommendations. Quality control was performed by evaluating comparability, timeliness, validity, and completeness. RESULTS: A total of 24,405 new cases were registered between 2014 and 2018, from which 4253 (17.4%) died. Among all cases, based on the anatomic location, most common malignancies were breast (n = 1554), thyroid (n = 1346), hematolymphoid (n = 1251), prostatic (n = 805), and colorectal (n = 624). The behavior of the new cases was consistent with an incremental trend. CONCLUSION: Upon implementing the HBCR, major challenges were identified (i.e., a precise definition of cases, the development of processes for capturing new cases, a standardized data collection strategy, and carrying-out an appropriate patient follow-up). Based on our experience, the success of an HBCR largely relies on the interest from the institution, the engagement of stakeholders and financial support, that is, it depends on the adequate access over time to funding, technological, and staffing resources.

Coffee Consumption and Its Inverse Relationship with Gastric Cancer: An Ecological Study.

Coffee is the second most popular drink worldwide, and it has various components with antioxidant and antitumor properties. Due to its chemical composition, it could act as an antitumor substance in the gastrointestinal tract. The objective of this study was to explore the relationship between coffee consumption and the incidence/mortality of stomach cancer in the highest-consuming countries. An ecological study using Spearman's correlation coefficient was performed. The WorldAtlas's dataset of coffee consumption and the incidence/mortality rates database of the International Agency for Research were used as sources of information. A total of 25 countries were entered to the study. There was an inverse linear correlation between coffee consumption in kg per person per year and estimated age-adjusted incidence (r = 0.5984, p = 0.0016) and mortality (r = 0.5877, p = 0.0020) of stomach cancer. Coffee may potentially have beneficial effects on the incidence and mortality of stomach cancer, as supported by the data from each country analyzed.

Strain segmentario y longitudinal de pacientes cubanos con drepanocitosis / Segmental and longitudinal strain in Cuban patients with sickle cell disease

Introducción: Las strain segmentaria y longitudinal constituyen excelentes parámetros para la cuantificación de la contractilidad miocárdica. Objetivo: Identificar los valores de strain segmentario y longitudinal de pacientes cubanos con drepanocitosis. Material y Método: Estudio descriptivo prospectivo en los 31 pacientes con drepanocitosis y 52 controles que asistieron al Instituto de Cardiología y Cirugía Cardiovascular entre junio de 2017 a enero de 2018, a los que se determinó strain segmentario y longitudinal como variables de estudio. Se compararon medias mediante la prueba t de Student y se realizó un análisis de varianza (ANOVA) con una prueba a posteriori de Tukey para p<0,05. Resultados: En los drepanocíticos las medias de strain segmentario estuvieron entre -17,7±3,4 porciento (p=0,0001*) y -28,6±4,1 por ciento(p=0,0005*) y -29,3±1,1 porciento (p=<0,0002*), fueron homogéneos todos sus segmentos y en el grupo control entre -19,3±2,9 por ciento (p=0,0001*), en general. Independientemente de que en los pacientes drepanocíticos las medias fueron más bajas estuvieron en el rango de lo normal. Los valores de las medias de strain longitudinal global oscilaron entre -19,2±3,3 y -25,2±2,7 fueron más negativos en el grupo control, respecto a los cubanos con drepanocitosis. Conclusiones: Los resultados obtenidos son los primeros de su tipo publicados en Cuba. Las strain segmentaria y longitudinal de los pacientes drepanocíticos cubanos analizados, con resultados significativamente diferentes que los individuos sanos, pero normales, coinciden con lo informado en la literatura internacional(AU)

Introduction: Segmental and longitudinal strains are excellent parameters for the quantification of myocardial contractility. Objective: To identify the values ​​of segmental and longitudinal strain in Cuban patients with sickle cell disease. Material and Method: A prospective descriptive study was conducted in 31 patients with sickle cell disease and 52 controls who attended the Institute of Cardiology and Cardiovascular Surgery between June 2017 and January 2018, to which segmental longitudinal strain was determined as study variable. The means between the two groups were compared using the Student's t-test; an analysis of variance (ANOVA) was performed with a posteriori Tukey test for p <0.05. Results: In the patients with sickle cell disease, the means of segmental strain were between -17,7±3,4 percent (p=0,0001*) and -28,6±4,1 percent (p=0,0005*) and -29,3±1,1 percent (p=<0,0002*) with all segments being homogeneous; in the control group they were between -19,3±2,9 percent (p=0,0001*) in general. Despite the means were the lowest in Cuban patients with sickle cell disease, they were within the normal range. The mean values ​​of global longitudinal strain ranged between -19.2 ± 3.3 and -25.2 ± 2.7, being more negative in the control group with respect to Cuban patients with sickle cell disease. Conclusions: The results obtained are the first of its type published in Cuba. The segmental and longitudinal strain in Cuban patients with sickle cell disease analyzed, which have significantly different results from those obtained in healthy individuals, but normal, coincide with those reported in the international literature(AU)

Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.

BACKGROUND: Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer. The concomitant presence of these tumors is extremely rare; however, some cases have been reported, none of them presenting with liposarcoma of the limbs. We report an interesting case of a patient with synchronous multiple primary tumors presenting with a very rare liposarcoma associated with renal cell carcinoma (a very rare association). A review of the literature and a collection of similar cases published previously are also provided. CASE PRESENTATION: We report a case of a 62-year-old Hispanic man who presented to our institution with a left thigh mass compatible with dedifferentiated liposarcoma synchronous with metastatic clear cell renal carcinoma. Multiple treatment lines were provided with no response, with a further metastatic transformation. Genetic analysis by liquid biopsy showed some mutations that were not susceptible to targeted therapy. At the time of this report, the patient is undergoing palliative care because his nonresponsive metastatic disease persists. CONCLUSIONS: We present the first reported case of clear cell renal carcinoma synchronous with dedifferentiated liposarcoma of a limb. The association between renal cell carcinoma and dedifferentiated liposarcoma is unusual, and there are few reports of this presentation in the literature. More research about these tumors along with genetic tests needs to be performed to seek a better understanding of the fundamental basis of this rare association.

An endothelial growth factor receptor compound mutation of T790M substitution with exon 19 deletion in a previously untreated patient: a case report.

BACKGROUND: Endothelial growth factor receptor (EGFR) mutations are an essential driver of personalized therapy for patients with lung cancer and are detected in approximately 15% of Caucasian and 50% of Asian patients. EGFR tyrosine kinase inhibitors have been developed and used for this set of patients. T790M mutation in exon 20 is usually associated with secondary resistance to EGFR tyrosine kinase inhibitors therapy but is also present in treatment-naïve patients. The frequency for baseline T790M mutation varies from 4 to 35% according to the detection method used. Newer techniques have yielded higher rates, but concerns about false-positive results have been raised. Compound mutations account for 4-14% of all EGFR-mutated tumors, with no studies yet to provide a frequency rate for T790M + 19 deletion association due to the small number of cases. However, there are reports that pretreatment T790M + L858R association is significantly more frequent compared to T790M + exon 19 deletion mutations. Diagnostic challenges, current knowledge on the subject, and therapeutic decisions are discussed. CASE PRESENTATION: We present the case of a 43-year-old Hispanic woman, a treatment-naïve patient, with metastasized lung cancer adenocarcinoma harboring a T790M deletion along with the classic 19 mutation. The initial symptoms were monoparesis of her left leg, associated with hyperreflexia, and hypoesthesia. In the absence of third-generation tyrosine kinase inhibitors, a platinum-based therapy was initiated with no response and she died 4 months after diagnosis. CONCLUSIONS: Osimertinib seems to be a suitable therapy for treatment-naïve patients with sensitizing and resistant compound EGFR mutations. More studies regarding the clinical characteristics of these patients and the appropriate management of this condition are needed to provide the highest standard of care.

Endocarditis por Pseudomonas spp: Descripción de un caso poco frecuente / Endocarditis caused by Pseudomonas spp: description of a rare case

RESUMEN Las infecciones por los dispositivos cardiovasculares son cada vez más frecuentes. Se presenta el caso de un hombre de 62 años edad con fiebre y toma del estado general, que había sido intervenido hacía siete años para la implantación de un marcapasos. En los complementarios se observaron leucocitosis y hemoglobina por debajo de 10 g/L; y en el ecocardiograma, un electrodo de marcapaso en cavidades derechas con múltiples masas ecodensas que indicaban endocarditis infecciosa. Se realizó extracción quirúrgica del dispositivo y cultivo de muestras de las vegetaciones, con aislamiento de Pseudomonas spp. Se administró terapia antimicrobiana sobre la base del antibiograma y el paciente evolucionó satisfactoriamente. Se debe pensar en esta enfermedad ante todo paciente con marcapasos que presente fiebre y sintomatología general, una vez que se han descartado otros posibles focos de infección; además, se debe actuar rápido para lograr un tratamiento adecuado.

ABSTRACT Infections due to cardiovascular devices are becoming more frequent. Here is presented the case of a 62-year-old male patient with fever and poor general condition, who had been intervened seven years ago for the implantation of a pacemaker. In the blood tests, leukocytosis and hemoglobin below 10 g/L were observed. The echocardiogram showed a pacemaker electrode in the right cavities with multiple echo-dense masses indicating infectious endocarditis. A surgical extraction of the device was performed as well as culture of vegetation samples with the isolation of Pseudomonas spp. An antimicrobial therapy was provided on the basis of the antibiogram, and the patient progressed satisfactorily. This clinical entity should be considered in any patient with a pacemaker who presents fever and general symptoms, once other possible sources of infection are ruled out; in addition to acting quickly in order to achieve an adequate treatment.

Reconociendo el valor de la hospitalización de la Diada como parte del cáncer en la vida misma / Recognizing the value of the hospitalization of the Diada as part of cancer in life itself

El cáncer es una enfermedad que para la persona implica en varias de sus etapas una condición de dependencia y se necesita de alguien que acompañe la trayectoria del paciente, es ahí donde surge el cuidador familiar. Este vínculo tiene particularidades durante la etapa de la hospitalización que puede afectar su biografía y percepción de sobrecarga. Objetivo: Describir el vínculo de la diada (persona con cáncer ­ Cuidador familiar) durante el momento de hospitalización en un Hospital Universitario en Bogotá Metodología: Es un estudio cualitativo, descriptivo con enfoque de Teoría fundamentada en el que participaron 14 diadas. Se utilizó entrevista semiestructurada y observación participante. Se analizaron mediante abordaje de codificación abierta, axial y selectiva para cada miembro de la diada por separado y uno final de los datos como diada. En todo el proceso se tuvo en cuenta la comparación constante. Resultados: Se derivaron 20 subcategorías, de las cuales 7 eran de la persona con cáncer, 6 del cuidador familiar y 7 de la Diada. Al final se identifican 7 patrones en común que permitieron surgir la categoría central: Reconociendo el valor de la hospitalización de la diada como parte del cáncer en la vida misma. Conclusión: El planteamiento teórico propone que cada integrante de la diada (PEC-CF) contribuye y percibe de manera complementaria el vínculo establecido en el periodo de hospitalización, tienen acciones de empatía de manera concreta o implícita, la relación es dinámica y percibía como positiva y negativa según el contexto, hay expresiones de reciprocidad en la toma de decisiones y valoran esta etapa del proceso de cronicidad como una oportunidad y momento de oro para darle sentido a la vida.

Cancer is a disease that for the person implies in several of its stages a condition of dependency and it needs someone to accompany the path of the patient that is where the family caregiver emerges. This link has particularities during the stage of hospitalization that may affect his biography and perception of overload. Objective: To describe the link of the dyad (person with cancer - Family Caregiver) during the time of hospitalization in a University Hospital in Bogotá. Methodology: This is a qualitative, descriptive study with an approach of grounded theory in which 14 dyads participated. Semi-structured interview and participant observation were used. They were analyzed using an open, axial and selective coding approach for each member of the dyad separately and a final one of the data as a dyad. The constant comparison was taken into account throughout the process. Results: 20 subcategories were derived, of which 7 were from the person with cancer, 6 from the family caregiver and 7 from the Dyad. In the end, 7 common patterns were identified that allowed the emergence of the central category: Recognizing the value of the hospitalization of the dyad as part of cancer in life itself. Conclusion: The theoretical approach proposes that each member of the dyad (PEC-CF) contributes and perceives in a complementary way the link established in the hospitalization period, they have empathy actions in a concrete or implicit way, the relationship is dynamic and perceived as positive and negative according to the context, there are expressions of reciprocity in decisionmaking and they value this stage of the chronicity process as a golden opportunity and moment to make sense of life.

Lesiones hepáticas nodulares por mieloma IgA como causa / Nodular hepatic lesions secondary to myeloma IgA presenting as fever of unknown origin

Se presenta el caso de un paciente de 45 años de edad, de sexo masculino, con antecedentes de mieloma múltiple IgA y trasplante autólogo de células progenitoras, que consultó un cuadro de seis semanas de fiebre asociada a sintomatología constitucional. Las pruebas hepáticas mostraron compromiso por infiltración celular. En la ecografía hepática se evidenciaron múltiples lesiones nodulares, identificadas como focos circunscritos de mieloma en la biopsia por laparoscopia. Éste podría ser el primer caso informado de fiebre de origen desconocido secundaria a lesiones hepáticas nodulares por mieloma.

A 45 year old male presented with IgA multiple myeloma s/p (status post) autologous hematopoietic stem cell transplantation; and with a history of six weeks of fever and constitutional symptoms. Liver tests showed an infiltrative pattern, with ultrasound evidence of multiple nodular lesions. A laparoscopic biopsy identified circumscribed myeloma foci. This is the first reported case of myeloma nodular liver lesions causing a fever of unknown origin.

[Nodular hepatic lesions secondary to myeloma IgA presenting as fever of unknown origin]. / Lesiones hepáticas nodulares por mieloma IgA como causa de fiebre de origen desconocido.

A 45 year old male presented with IgA multiple myeloma s/p (status post) autologous hematopoietic stem cell transplantation; and with a history of six weeks of fever and constitutional symptoms. Liver tests showed an infiltrative pattern, with ultrasound evidence of multiple nodular lesions. A laparoscopic biopsy identified circumscribed myeloma foci. This is the first reported case of myeloma nodular liver lesions causing a fever of unknown origin.