Síndrome de Li-Fraumeni Presentación metacrónica de sarcoma de tejidos blandos, sarcoma cardiaco y cáncer gástrico / Li-Fraumeni Syndrome Metachronous presentation of soft-tissue sarcoma, heart sarcoma and gastric cancer

Resumen El síndrome de Li-Fraumeni (SLF) es un trastorno autosómico dominante hereditario con predisposición al cáncer, está asociado con anomalías en el gen de la proteína tumoral p53 (TP53), que se manifiesta por una amplia gama de neoplasias malignas que aparecen a una edad temprana. Se expone al caso de un adulto joven en quien hicimos este diagnóstico, y se describen las perspectivas terapéuticas en investigación. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2198).

Abstract Li-Fraumeni syndrome (LFS) is a hereditary autosomal dominant disorder with a predisposition to cancer. It is associated with abnormalities of the tumor protein p53 (TP53) gene, manifesting with a broad range of malignant neoplasms which appear at an early age. We discuss the case of a young adult in whom we did this diagnosis, and we describe the therapeutic perspectives being researched. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2198).

Rendimiento diagnóstico de marcadores tumorales séricos convencionales en pacientes con sospecha clínica de cáncer primario metastásico a hígado / Conventional serum tumor markers in liver cancer. Retrospective analysis of 118 patients

Background: Conventional serum tumor markers (CSTM) are widely used for monitoring patients with cancer. However, their usefulness as a diagnostic tool is controversial in primary or metastatic liver cancer (PMLC). Aim: To evaluate the diagnostic performance of the most commonly requested CSTM in the diagnostic approach of PMLC. Material and Methods: Review of medical records of patients aged over 18 years with a liver biopsy, attended from 2005 to 2017 in a tertiary hospital and a regional cancer center in Colombia. The results of liver biopsies were compared with tumor markers such as carcinoembryonic antigen (CEA), alpha-fetoprotein (AFP), CA 19-9, CA 125 and prostate specific antigen (PSA) using a receiver operating characteristic (ROC) curve analysis. Results: We reviewed 2063 medical records and retrieved 118 eligible patients (59 cases and 59 controls, 70% males). Thirty percent had obstructive jaundice. There was heterogeneity in the amount of tumor markers requested according to medical criteria. Only CA 19-9 showed discriminative capacity (> 17.6 U/m), with a cut-off point lower than that reported in the literature and a sensitivity of 69.5%, specificity of 91.6%, a positive likelihood ratio (LR) of 8.32, and a negative LR of 0.33. Conclusions: Except for CA 19-9, tumor markers were not useful for the initial diagnostic approach in patients with suspected primary or metastatic malignant liver tumors.

Paracoccidioidomicosis. Una enfermedad multisistémica / Paracoccidioidomycosis. A multisystemic disease

Resumen La paracoccidioidomicosis es una enfermedad crónica, sistémica y progresiva, sólo descrita en América Latina. Su presentación clínica crónica multifocal es la más prevalente, afectando mayormente a hombres adultos y comprometiendo principalmente a pulmones, sin embargo, puede diseminarse a cualquier órgano generando múltiples complicaciones en el paciente. Presentamos el caso de un paciente masculino, inmunocompetente, caficultor, quien debuta con compromiso de la glándula suprarrenal y en quien posteriormente se documenta compromiso pulmonar. El diagnóstico se confirmó mediante biopsia de lesiones en glándula suprarrenal, inmunodifusión en gel de agar y reacción en cadena de la polimerasa, la cual mostró compromiso por Paracoccidioides brasiliensis. (Acta Med Colomb 2018; 43: 111-114).

Abstract Paracoccidioidomycosis is a chronic, systemic and progressive disease which is described only in Latin America. Its chronic and multifocal clinical presentation is the most prevalent, affecting mainly adult men and compromising mainly lungs; however, it can spread to any organ generating multiple complications in the patient. The case of an immunocompetent male patient, coffee grower, who debuted with compromise of the adrenal gland and in who subsequently pulmonary involvement was documented, is presented. The diagnosis was confirmed by biopsy of lesions in the adrenal gland, agar gel immunodiffusion and polymerase chain reaction, which showed compromise by Paracoccidioides brasilensis. (Acta Med Colomb 2018; 43: 111-114).

[Conventional serum tumor markers in liver cancer. Retrospective analysis of 118 patients]. / Rendimiento diagnóstico de marcadores tumorales séricos convencionales en pacientes con sospecha clínica de cáncer primario metastásico a hígado.

BACKGROUND: Conventional serum tumor markers (CSTM) are widely used for monitoring patients with cancer. However, their usefulness as a diagnostic tool is controversial in primary or metastatic liver cancer (PMLC). AIM: To evaluate the diagnostic performance of the most commonly requested CSTM in the diagnostic approach of PMLC. MATERIAL AND METHODS: Review of medical records of patients aged over 18 years with a liver biopsy, attended from 2005 to 2017 in a tertiary hospital and a regional cancer center in Colombia. The results of liver biopsies were compared with tumor markers such as carcinoembryonic antigen (CEA), alpha-fetoprotein (AFP), CA 19-9, CA 125 and prostate specific antigen (PSA) using a receiver operating characteristic (ROC) curve analysis. RESULTS: We reviewed 2063 medical records and retrieved 118 eligible patients (59 cases and 59 controls, 70% males). Thirty percent had obstructive jaundice. There was heterogeneity in the amount of tumor markers requested according to medical criteria. Only CA 19-9 showed discriminative capacity (> 17.6 U/m), with a cut-off point lower than that reported in the literature and a sensitivity of 69.5%, specificity of 91.6%, a positive likelihood ratio (LR) of 8.32, and a negative LR of 0.33. CONCLUSIONS: Except for CA 19-9, tumor markers were not useful for the initial diagnostic approach in patients with suspected primary or metastatic malignant liver tumors.

Hemoptisis relacionada a una aspergilosis pulmonar cavitaria cónica: presentación de un caso / Hemoptysis related to chronic cavitary aspergillosis of the lung: case report

RESUMEN Introducción: la aspergilosis pulmonar crónica es una patología infrecuente, su prevalencia aumenta en asociación con alteraciones estructurales, esto resalta la importancia de su conocimiento teniendo en cuenta la elevada incidencia de tuberculosis en Colombia. Por el carácter angioinvasivo del hongo la posibilidad de desarrollar hemoptisis es alta, pudiendo llegar a comprometer la vida de quien la padece. Objetivo: estudiar la forma de presentación y abordaje diagnóstico de la aspergilosis y su asociación con secuelas de tuberculosis pulmonar. Presentación de caso: se presenta el caso de un paciente masculino de 44 años, con secuelas pulmonares por tuberculosis, que requirió hospitalización por hemoptisis recurrente; con hallazgos imagenológicos sugestivos de aspergilosis pulmonar, requirió estabilización clínica, embolización arterial selectiva y resección de la lesión. Conclusión: la aspergilosis es una enfermedad inusual y se requiere de la integración de aspectos clínicos e imagenológicos representativos para hacer un diagnóstico acertado. MÉD.UIS. 2017;30(1):79-86.

ABSTRACT Introduction: the chronic pulmonary aspergillosis is an uncommon condition, its prevalence increases in association with structural alterations, this highlights the importance of its knowledge bearing in mind the high incident of tuberculosis in Colombia. for the angioinvasive behavior of the fungus, the possibility of developing hemoptysis is high even life threatening. Objective: to study the form of presentation and diagnostic approach of the aspergilosis and his association with sequels of pulmonary tuberculosis. Case Report: we present a case of a 44-year-old masculine patient, with pulmonary sequels for tuberculosis who required hospitalization because of recurring hemoptysis; some imagenologic findings were found suggesting of pulmonary aspergillosis, he required clinical stabilization, selective arterial embolization and finally resection of the lesion. Conclusion: the aspergillosis is an unusual disease and requires integration of non-accurate clinical aspects and some representative imagenologic findings to make a proper diagnostic. MÉD.UIS. 2017;30(1):79-86.