A novel ALK rearrangement in an inflammatory myofibroblastic tumor in a neonate

Inflammatory myofibroblastic tumors (IMTs) are uncommon lesions primarily affecting children and young adults. They have rarely been described in infants, with a very small number described in neonates. Structural rearrangements in the anaplastic large-cell lymphoma kinase gene (ALK) has contributed to our categorizing this lesion as a neoplasm. In addition, rearrangements of the ALK gene have been implicated in the pathogenicity of many other hematolymphoid and non-hematolymphoid tumors, typically involving 2p23 with different partners or with pericentric inversion. We report a previously undescribed cryptic deletion and intrachromosomal-insertional translocation of the 3'-region of the ALK gene from 2p23 to the 2q33-q35 in an IMT of a newborn patient with an apparently normal G-band karyotype of the tumor.