Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development

Crocifissa Lo Cunsolo, Achille Iolascon, Andrea Cavazzana, Roberto Cusano, Paolo Strigini, Katia Mazzocco, Lucia Giordani, Luisa Massimo, Bruno De Bernardi, Massimo Conte, Gian Paolo Tonini

Research output: Contribution to journalArticle

Abstract

Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus DIZ2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. Loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using DNA from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus DIS468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36→pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele.

Original languageEnglish
Pages (from-to)126-130
Number of pages5
JournalCancer Genetics and Cytogenetics
Volume109
Issue number2
DOIs
Publication statusPublished - Mar 1999

Fingerprint

Neuroblastoma
Siblings
Loss of Heterozygosity
Neoplasms
Chromosomes
Mothers
Homologous Recombination
Trisomy
Diploidy
Fluorescence In Situ Hybridization
Restriction Fragment Length Polymorphisms
Paraffin
Haplotypes
Color
Alleles
DNA
Population
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Cunsolo, C. L., Iolascon, A., Cavazzana, A., Cusano, R., Strigini, P., Mazzocco, K., ... Tonini, G. P. (1999). Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. Cancer Genetics and Cytogenetics, 109(2), 126-130. https://doi.org/10.1016/S0165-4608(98)00154-X

Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. / Cunsolo, Crocifissa Lo; Iolascon, Achille; Cavazzana, Andrea; Cusano, Roberto; Strigini, Paolo; Mazzocco, Katia; Giordani, Lucia; Massimo, Luisa; De Bernardi, Bruno; Conte, Massimo; Tonini, Gian Paolo.

In: Cancer Genetics and Cytogenetics, Vol. 109, No. 2, 03.1999, p. 126-130.

Research output: Contribution to journalArticle

Cunsolo, CL, Iolascon, A, Cavazzana, A, Cusano, R, Strigini, P, Mazzocco, K, Giordani, L, Massimo, L, De Bernardi, B, Conte, M & Tonini, GP 1999, 'Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development', Cancer Genetics and Cytogenetics, vol. 109, no. 2, pp. 126-130. https://doi.org/10.1016/S0165-4608(98)00154-X
Cunsolo, Crocifissa Lo ; Iolascon, Achille ; Cavazzana, Andrea ; Cusano, Roberto ; Strigini, Paolo ; Mazzocco, Katia ; Giordani, Lucia ; Massimo, Luisa ; De Bernardi, Bruno ; Conte, Massimo ; Tonini, Gian Paolo. / Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. In: Cancer Genetics and Cytogenetics. 1999 ; Vol. 109, No. 2. pp. 126-130.
@article{6443dfc7826b48a1a8d6e44110443d81,
title = "Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development",
abstract = "Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus DIZ2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. Loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using DNA from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus DIS468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36→pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele.",
author = "Cunsolo, {Crocifissa Lo} and Achille Iolascon and Andrea Cavazzana and Roberto Cusano and Paolo Strigini and Katia Mazzocco and Lucia Giordani and Luisa Massimo and {De Bernardi}, Bruno and Massimo Conte and Tonini, {Gian Paolo}",
year = "1999",
month = "3",
doi = "10.1016/S0165-4608(98)00154-X",
language = "English",
volume = "109",
pages = "126--130",
journal = "Cancer Genetics and Cytogenetics",
issn = "0165-4608",
publisher = "Elsevier Inc.",
number = "2",

}

TY - JOUR

T1 - Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development

AU - Cunsolo, Crocifissa Lo

AU - Iolascon, Achille

AU - Cavazzana, Andrea

AU - Cusano, Roberto

AU - Strigini, Paolo

AU - Mazzocco, Katia

AU - Giordani, Lucia

AU - Massimo, Luisa

AU - De Bernardi, Bruno

AU - Conte, Massimo

AU - Tonini, Gian Paolo

PY - 1999/3

Y1 - 1999/3

N2 - Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus DIZ2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. Loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using DNA from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus DIS468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36→pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele.

AB - Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus DIZ2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. Loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using DNA from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus DIS468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36→pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele.

UR - http://www.scopus.com/inward/record.url?scp=0345130099&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0345130099&partnerID=8YFLogxK

U2 - 10.1016/S0165-4608(98)00154-X

DO - 10.1016/S0165-4608(98)00154-X

M3 - Article

C2 - 10087945

AN - SCOPUS:0345130099

VL - 109

SP - 126

EP - 130

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 2

ER -