Germline ALK variant in patient with neurodisability and neuroblastoma

Anaplastic Lymphoma Kinase (ALK) is a transmembrane receptor tyrosine kinase involved in nervous system development. Germline ALK mutations are the commonest cause of hereditary neuroblastoma, usually without a neurodevelopmental phenotype. We report a child with congenital low- risk neuroblastoma, developmental delay, feeding difficulties, poor growth and a de novo heterozygous, germline F1174L ALK mutation. The child was treated with the 3rd generation ALK inhibitor lorlatinib from 6 years of age, with marked symptom improvement. To our knowledge this is the first report of both this germline ALK mutation and use of an ALK inhibitor to treat the associated phenotype.

• Type: Cancer Genomics
• Archive: European Genome-phenome Archive (EGA)