title: Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1-23.3.
abstract: Constitutional 11q interstitial deletion syndrome presents with congenital anomalies including microcephaly with craniostenosis, minor dysmorphic features, vitreoretinopathy, and renal anomalies. This syndrome is occasionally associated with neuroblastoma (NB) as a life-threatening complication, which is important for clinical care. Although the corresponding locus to NB has been predicted to exist in 11q22-23 by previous deletion studies related to NB, the causative haploinsufficient genes have not yet been identified. We herein reported for the first time the simultaneous coexistence of adrenal NB and abdominal prevertebral ganglioneuroma in a 6-year-old girl with a constitutional hemizygous 11q14.1-23.3 deletion. Of the 11 haploinsufficient genes predicted with an in silico database, we focused on NCAM1 and CADM1 as the genes accountable for NB and ganglioneuroma. The deletion range, especially the 11q22.3 involvement, needs to be determined in 11q deletion cases in order to predict susceptibility to peripheral nerve tumors involving NB and ganglioneuroma.
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Shiohama
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Moeko
authors.initials: M
authors.lastname: Hino
authors.affiliation: Divsion of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Shimizu
authors.affiliation: Divsion of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.affiliation: Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Michiyo
authors.initials: M
authors.lastname: Kambe
authors.affiliation: Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Nakatani
authors.affiliation: Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Mitsunaga
authors.affiliation: Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Hidemasa
authors.initials: H
authors.lastname: Ochiai
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Shimojo
mesh_terms: D019002:CD56 Antigen / Q000235:genetics*; D000075982:Cell Adhesion Molecule-1; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D005729:Ganglioneuroma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics*; D007621:Karyotyping; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
chemical_list: C403514:CADM1 protein, human; D019002:CD56 Antigen; D000075982:Cell Adhesion Molecule-1; D015815:Cell Adhesion Molecules; D007136:Immunoglobulins; C522918:NCAM1 protein, human
keywords: CADM1; NCAM1; del(11)(q14.1q23.3); ganglioneuroma; neuroblastoma