title: Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?
abstract: A male infant with dysmorphic features, intestinal malrotation, and developmental delay was found to have a germline translocation resulting in partial trisomy 2p and monosomy 16p. At 3 and 9 months of age, he developed localized neuroblastoma in each adrenal, which was managed with surgical resection. Tumors were MYCN non-amplified, with 2p copy gain consistent with the germline translocation. The potential increased risk of neuroblastoma associated with partial trisomy 2p is discussed in the context of this and previously published cases, and may be due to increased constitutional expression of MYCN and ALK genes, both located within the duplicated 2p region.
authors.affiliation: *Department of Paediatrics, Division of Haematology/Oncology ‡Division of Molecular Genetics §Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada †Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Morgenstern
authors.forename: Shui Yen
authors.initials: SY
authors.lastname: Soh
authors.forename: Dimitri J
authors.initials: DJ
authors.lastname: Stavropoulos
authors.forename: Sarah
authors.initials: S
authors.lastname: Bowdin
authors.forename: Sylvain
authors.initials: S
authors.lastname: Baruchel
authors.forename: David
authors.initials: D
authors.lastname: Malkin
authors.forename: M Stephen
authors.initials: MS
authors.lastname: Meyn
authors.forename: Meredith S
authors.initials: MS
authors.lastname: Irwin
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D000077548:Anaplastic Lymphoma Kinase; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D020732:Cytogenetic Analysis; D056915:DNA Copy Number Variations; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009006:Monosomy; D000071447:N-Myc Proto-Oncogene Protein; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000473:pathology; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D011379:Prognosis; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins; C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases