title: Congenital neuroblastoma in a patient with partial trisomy of 2p.
abstract: We report the fourth example of a patient with germline partial trisomy of 2p21-pter and congenital neuroblastoma. The male infant had a dysmorphic facial expression and presented with congenital heart disease, supernumerary nipples, hypospadias, shawl scrotum, hemilateral persistent hyperplastic primary vitreous, and neuroblastoma. His germline karyotype of 46,XY,der(8)t(2;8)(p21;p23.2) was inherited from a maternal-balanced translocation, which indicates that the proto-oncogene MYCN region of 2p24.3 is tripicated in germline cells. A cytogenetic study of the biopsied tumor cells did not show MYCN amplification, but the DNA index was 2.4 and histologic fluorescent in situ hybridization analysis indicated somatic mutation with near-pentaploidy of the tumor cells. This could be an alternative mechanism of MYCN activation in the process of the tumorigenesis of neuroblastoma.
authors.affiliation: Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Dowa
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Abe
authors.forename: Masaki
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Rikuo
authors.initials: R
authors.lastname: Hoshino
authors.forename: Kazumi
authors.initials: K
authors.lastname: Tanaka
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Take
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kato
authors.forename: Yukichi
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Jyunpei
authors.initials: J
authors.lastname: Ariyama
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D001706:Biopsy; D002889:Chromosomes, Human, Pair 2; D005784:Gene Amplification; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D008297:Male; D000071447:N-Myc Proto-Oncogene Protein; D009447:Neuroblastoma / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D014314:Trisomy
chemical_list: C000715470:MAS1 protein, human; C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas