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Estudios recientes han sugerido la presencia de un aislado poblacional en la vereda de Runta en el departamento de Boyacá, por el hallazgo de enfermedades raras de herencia recesiva en un número mayor al esperado de pacientes. Esto indica la probabilidad de una tasa de consanguinidad aumentada en esta población. En el presente estudio se busca determinar los parámetros de endogamia mediante isonimia para analizar la estructura poblacional de esta vereda y ayudar a elucidar las causas de la aparición de estas enfermedades. Se establecerán 6 parámetros indicativos de estructura poblacional basados en los apellidos registrados de los habitantes de Runta. Se obtuvo un coeficiente de endogamia (θii) de 0.0083, un alfa de Fisher (α) de 30.0447 y unos estimativos A, B y C de 0.0379, 0.3413 y 0.4669, respectivamente. La mayoría de los individuos se encuentran agrupados en los apellidos más frecuentes de la población y los parámetros de isonimia en Runta son similares a aquellos de comunidades aisladas previamente descritas en la literatura. Estos resultados soportan la idea previa de que se está ante un aislado genético en una población muy cercana a la capital del departamento de Boyacá. [ABSTRACT FROM AUTHOR]

Introduction: Lung cancer is the second most common cancer worldwide and the leading cause of cancer deaths; non-small cell lung cancer (NSCLC) constitutes about 85% of lung cancer cases, with ALK fusions representing 3-6% of them. The SQSTM1-ALK fusion is a rare finding in NSCLC, accounting for only 1.1% of ALK rearrangements. We present a case of lung adenocarcinoma with documentation of SQSTM1-ALK fusion that showed a partial response to alectinib., Case Description: This case details the clinical course of a 71-year-old, non-smoking woman with no significant medical history who presented with confusion, aphasia and multiple cerebral lesions detected on imaging. Further investigations revealed a stage IV lung adenocarcinoma with metastases to the brain and adrenal gland. Molecular profiling identified a rare SQSTM1-ALK fusion mutation alongside other genetic abnormalities, including low programmed death-ligand 1 expression and ROS1 kinase protein presence. Treatment with alectinib, initiated based on the identified ALK fusion, resulted in significant tumour regression in the lungs and complete resolution of the adrenal mass, as evidenced by follow-up imaging and clinical assessments., Conclusion: This case highlights the efficacy of alectinib in treating rare ALK fusion variants in and underscores the importance of comprehensive molecular profiling in guiding targeted therapy decisions., Learning Points: Recognition of rare ALK fusions This case highlights the importance of identifying rare ALK fusions, such as SQSTM1-ALK, in non-small cell lung cancer (NSCLC), which can guide personalised treatment strategies. Utility of advanced molecular diagnostics The use of next-generation sequencing alongside immunohistochemistry is crucial for accurately detecting ALK and ROS1 rearrangements, avoiding false positives and enabling the identification of druggable mutations. Impact of personalised medicine This case reinforces the value of personalised medicine in NSCLC, where molecular profiling can uncover unique genetic alterations, allowing for more tailored and potentially more effective treatments., Competing Interests: Conflicts of Interests: The authors declare that there are no conflicts of interest associated with the publication of this case report. All authors have no financial or personal relationships that could influence or bias the content of this manuscript. This case report received no specific funding from any funding agency, commercial entity or other external sources., (© EFIM 2024.)

Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure., Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure., Patients and Method: Patients included were those aged between 0-17 years with a diagnosis of Bone Marrow Failure Syndrome according to the ICD-10 classification codes, who had undergone a genetic study between 2018 and 2022. The information was obtained from the electronic medical records system. Genomic DNA was isolated and quantified through the Qubit™ 3.0 fluorometer. Regions of interest were selected using a hybridization probe that included the intronic and exonic regions adjacent to the genes included in the panel. Clonal amplification and paired-end sequencing of the selected regions were performed using the Illumina MiSeq™ system. Bioinformatics analysis was performed in alignment with the reference genome (GRCh38). Variants classified as probably pathogenic or pathogenic were confirmed through Sanger sequencing., Results: Out of 18 patients included, a genetic diagnosis was achieved through NGS in 5 (27.8%) of them: two cases of Fanconi Anemia, two cases of Dyskeratosis Congenita, and one case of TP53- associated bone marrow failure. Clinical concordance was 100%. Two novel variants were found in the FANCA and PARN genes as causing disease., Conclusions: The use of NGS in patients with bone marrow failure identified the etiology in close to a third of patients of our cohort, with higher yield in patients with a clear clinical diagnosis and syndromic features.

Renal cystic diseases are common conditions whose etiology can be highly heterogeneous. They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service. We describe 11 clinical cases including clinical entities such as renal multicystic dysplasia, and autosomal dominant and autosomal recessive polycystic renal disease, among other pathologies. Renal cystic diseases are heterogeneous in their clinical presentation, natural history, radiological findings, and genetic and pathophysiological basis. An integral clinical approach is needed to get a clear etiological diagnosis and offer adequate individualized care and follow-up for patients.