title: A novel ALK rearrangement in an inflammatory myofibroblastic tumor in a neonate.
abstract: 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.
authors.affiliation: University of Texas Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Nicci
authors.initials: N
authors.lastname: Owusu-Brackett
authors.forename: Romaine
authors.initials: R
authors.lastname: Johnson
authors.forename: David T
authors.initials: DT
authors.lastname: Schindel
authors.forename: Prasad
authors.initials: P
authors.lastname: Koduru
authors.forename: Sandy
authors.initials: S
authors.lastname: Cope-Yokoyama
mesh_terms: D000077548:Anaplastic Lymphoma Kinase; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D059785:Karyotype; D009333:Neck / Q000000981:diagnostic imaging; D009379:Neoplasms, Muscle Tissue / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic
chemical_list: C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases
keywords: ALK; EXIT procedure; inflammatory myofibroblastic tumor; neonate; prenatal diagnosis