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Tumor inflamatorio miofibroblástico pediátrico intracraneal con fusión DCTN1::ALK: reporte de un caso con correlación
Ali Jama Ali1, Qiang Li2, Chengyuan Dong1
1Department of Neurosurgery, West China Hospital of Sichuan University, No.37 Guoxue Road, Chengdu, 610041, P.R. China.
Abstract:
Central nervous system inflammatory myofibroblastic tumors are rare; pediatric DCTN1::ALK fusion cases are exceptionally uncommon. Here, we present an eight-year-old boy who presented with headache, vomiting, and a rapidly enlarging right frontal scalp mass. An MRI showed a dural, extra-axial lesion with mass effect. Histology confirmed IMT, and ALK immunohistochemistry was positive; next-generation sequencing (NGS) identified DCTN1 (exon 1-27)-ALK (exon 20-29) fusion, and FISH confirmed ALK rearrangement (33/100 nuclei). Genomic metrics showed tumor mutational burden (TMB) of 0.94/Mb, microsatellite stability, and CNV burden of 2.1%. He underwent near total resection followed by alectinib; to our knowledge, this is the first reported young pediatric (<10 years old) CNS IMT with this fusion.
