Molecular and Genetic Medicine

Neuroblastoma is a common pediatric cancer originating from neural crest cells. Among its various genetic mutations, the Anaplastic Lymphoma Kinase (ALK) gene mutations are significant due to their role in tumorigenesis and therapy resistance. This article presents a case of an infant with a germline ALK F1174I mutation, multifocal neuroblastoma, and central hypoventilation, providing insights into the clinical, genetic, and therapeutic implications of this mutation. Through a detailed case study, literature review, and discussion, we aim to elucidate the pathophysiology and potential treatment strategies for this rare presentation, highlighting the need for personalized medicine in pediatric oncology.

Lynch-like Syndrome (LLS) is a condition characterized by Colorectal Cancer (CRC) with features similar to Lynch Syndrome (LS), yet lacking identifiable pathogenic germline variants in mismatch repair (MMR) genes. This study investigates the presence of pathogenic germline variants in patients with LLS using Whole-Exome Sequencing (WES). We analyzed WES data from 100 LLS patients, focusing on MMR genes and other cancer-related genes. Pathogenic variants were identified and validated, revealing significant findings that expand our understanding of the genetic basis of LLS. Our results demonstrate that a substantial proportion of LLS patients harbor pathogenic variants not detected by conventional testing, highlighting the utility of WES in the genetic evaluation of these patients.

Aspergillus species, particularly Aspergillus fumigatus, are ubiquitous fungi known for causing infections in immunocompromised individuals. The rising incidences of Aspergillus outbreaks in healthcare settings, especially in Intensive Care Units (ICUs), necessitate the development of advanced diagnostic and analytical techniques to track and control these infections. This article explores the use of Whole Genome Sequencing (WGS) and Short Tandem Repeats (STR) analysis in identifying and understanding the source of an Aspergillus outbreak in an ICU. By integrating these molecular techniques, we provide a comprehensive source analysis, highlighting the advantages and limitations of each method. Our findings underscore the importance of precise genomic tools in outbreak investigations, contributing to improved infection control and patient safety in healthcare environments.

This article explores the biological consequences of the first COVID-19 dependable interactive DNA methylation markers. DNA methylation plays a crucial role in regulating gene expression and has been linked to various diseases, including COVID-19. Understanding the specific DNA methylation markers associated with COVID-19 can provide valuable insights into disease mechanisms, diagnosis, and treatment. This article reviews existing literature on DNA methylation markers in COVID-19 and discusses their implications for biology and medicine.