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Article Name - A Germline ALK F1174I Mutant Infant with Multifocal Neuroblastoma and Central Hypoventilation

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  • Keywords Neuroblastoma • ALK mutation • Germline mutation • Central hypoventilation ... 2024-07-12
  • Introduction Neuroblastoma is the most common extracranial solid tumor in children, often presenting with a diverse clinical spectrum ranging from asymptomatic masses to life-threatening conditions. The di ... 2024-07-12
  • Literature Review Neuroblastoma arises from neural crest cells, which give rise to the sympathetic nervous system. It typically presents in the adrenal medulla or paraspinal ganglia and is diagnosed in children ... 2024-07-12
  • Discussion This case underscores the interplay between genetic mutations and clinical manifestations in pediatric oncology. The presence of the ALK F1174I mutation likely contributed to the aggressive na ... 2024-07-12
  • Conclusion The case of an infant with a germline ALK F1174I mutation, multifocal neuroblastoma, and central hypoventilation underscores the complexities and challenges in pediatric oncology. The overlap ... 2024-07-12
  • Acknowledgement None. ... 2024-07-12
  • Conflict of Interest None. ... 2024-07-12
  • References Pugh, Trevor J., Olena Morozova, Edward F. Attiyeh and Shahab Asgharzadeh, et al. "The genetic landscape of high-risk neuroblastoma." Nat Gene 45 (2013): 279-284. Google Scholar, ... 2024-07-12