Molecular and Genetic Medicine

Department of Pediatric Radiology, University of Trieste, 34149 Trieste, Italy

Publications

• Mini Review   
  A Germline ALK F1174I Mutant Infant with Multifocal Neuroblastoma and Central Hypoventilation
  Author(s): Tatiana Muratore*
  
  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... Read More»
  DOI: 10.37421/1747-0862.2024.18.664

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