Congenital neuroblastoma in a patient with partial trisomy of 2p.
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.
Dowa
Yuri
Y
Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yamamoto
Toshiyuki
T
Abe
Yasuko
Y
Kobayashi
Masaki
M
Hoshino
Rikuo
R
Tanaka
Kazumi
K
Aida
Noriko
N
Take
Hiroshi
H
Kato
Keisuke
K
Tanaka
Yukichi
Y
Ariyama
Jyunpei
J
Harada
Naoki
N
Matsumoto
Naomichi
N
Kurosawa
Kenji
K
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
C000715470:MAS1 protein, human; C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas