Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma

Jun Nishio, John D. Gentry, James R. Neff, Marilu Nelson, Wayne Daniels, Deborah Perry, Zoran Gatalica, Julia A. Bridge

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Small cell osteosarcoma is a rare bone tumor of high-grade malignancy that most often arises in the metaphysis of long bones in the second decade of life. Cytogenetic and molecular genetic findings in small cell osteosarcoma are poorly defined. Conventional cytogenetic analysis of a small cell osteosarcoma arising in the proximal tibia of a 9-year-old male revealed a diploid chromosomal complement with complex structural rearrangements involving chromosomes 6, 16, and 17. Immunohistochemical assessment of p53 protein expression revealed nuclear p53 immunoreactivity in approximately 15% of the neoplastic cells. Subsequent fluorescence in situ hybridization (FISH) analyses confirmed loss of the p53 gene locus on the derivative chromosome 17 homolog and were negative for amplification of the MDM2, CDK4, c-MYC, HER-2/neu, CCND1, and COPS3 gene loci. To the best of our knowledge, this represents the first demonstration of monoallelic deletion of p53 in small cell osteosarcoma, suggesting that p53 alterations may play an important role in the development of small cell osteosarcoma as well as conventional osteosarcoma.

Original languageEnglish (US)
Pages (from-to)852-856
Number of pages5
JournalVirchows Archiv
Volume448
Issue number6
DOIs
StatePublished - Jun 1 2006

Fingerprint

Genetic Translocation
p53 Genes
Osteosarcoma
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 16
Bone and Bones
Chromosomes, Human, Pair 6
Cytogenetic Analysis
Diploidy
Tibia
Fluorescence In Situ Hybridization
Cytogenetics
Molecular Biology
Neoplasms
Genes
Proteins

Keywords

  • Cytogenetics
  • FISH
  • Small cell osteosarcoma
  • p53

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

Cite this

Nishio, J., Gentry, J. D., Neff, J. R., Nelson, M., Daniels, W., Perry, D., ... Bridge, J. A. (2006). Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma. Virchows Archiv, 448(6), 852-856. https://doi.org/10.1007/s00428-006-0181-x

Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma. / Nishio, Jun; Gentry, John D.; Neff, James R.; Nelson, Marilu; Daniels, Wayne; Perry, Deborah; Gatalica, Zoran; Bridge, Julia A.

In: Virchows Archiv, Vol. 448, No. 6, 01.06.2006, p. 852-856.

Research output: Contribution to journalArticle

Nishio, J, Gentry, JD, Neff, JR, Nelson, M, Daniels, W, Perry, D, Gatalica, Z & Bridge, JA 2006, 'Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma', Virchows Archiv, vol. 448, no. 6, pp. 852-856. https://doi.org/10.1007/s00428-006-0181-x
Nishio, Jun ; Gentry, John D. ; Neff, James R. ; Nelson, Marilu ; Daniels, Wayne ; Perry, Deborah ; Gatalica, Zoran ; Bridge, Julia A. / Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma. In: Virchows Archiv. 2006 ; Vol. 448, No. 6. pp. 852-856.
@article{88768c152ab54b11a2658cb594884b91,
title = "Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma",
abstract = "Small cell osteosarcoma is a rare bone tumor of high-grade malignancy that most often arises in the metaphysis of long bones in the second decade of life. Cytogenetic and molecular genetic findings in small cell osteosarcoma are poorly defined. Conventional cytogenetic analysis of a small cell osteosarcoma arising in the proximal tibia of a 9-year-old male revealed a diploid chromosomal complement with complex structural rearrangements involving chromosomes 6, 16, and 17. Immunohistochemical assessment of p53 protein expression revealed nuclear p53 immunoreactivity in approximately 15{\%} of the neoplastic cells. Subsequent fluorescence in situ hybridization (FISH) analyses confirmed loss of the p53 gene locus on the derivative chromosome 17 homolog and were negative for amplification of the MDM2, CDK4, c-MYC, HER-2/neu, CCND1, and COPS3 gene loci. To the best of our knowledge, this represents the first demonstration of monoallelic deletion of p53 in small cell osteosarcoma, suggesting that p53 alterations may play an important role in the development of small cell osteosarcoma as well as conventional osteosarcoma.",
keywords = "Cytogenetics, FISH, Small cell osteosarcoma, p53",
author = "Jun Nishio and Gentry, {John D.} and Neff, {James R.} and Marilu Nelson and Wayne Daniels and Deborah Perry and Zoran Gatalica and Bridge, {Julia A.}",
year = "2006",
month = "6",
day = "1",
doi = "10.1007/s00428-006-0181-x",
language = "English (US)",
volume = "448",
pages = "852--856",
journal = "Virchows Archiv",
issn = "0945-6317",
publisher = "Springer Verlag",
number = "6",

}

TY - JOUR

T1 - Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma

AU - Nishio, Jun

AU - Gentry, John D.

AU - Neff, James R.

AU - Nelson, Marilu

AU - Daniels, Wayne

AU - Perry, Deborah

AU - Gatalica, Zoran

AU - Bridge, Julia A.

PY - 2006/6/1

Y1 - 2006/6/1

N2 - Small cell osteosarcoma is a rare bone tumor of high-grade malignancy that most often arises in the metaphysis of long bones in the second decade of life. Cytogenetic and molecular genetic findings in small cell osteosarcoma are poorly defined. Conventional cytogenetic analysis of a small cell osteosarcoma arising in the proximal tibia of a 9-year-old male revealed a diploid chromosomal complement with complex structural rearrangements involving chromosomes 6, 16, and 17. Immunohistochemical assessment of p53 protein expression revealed nuclear p53 immunoreactivity in approximately 15% of the neoplastic cells. Subsequent fluorescence in situ hybridization (FISH) analyses confirmed loss of the p53 gene locus on the derivative chromosome 17 homolog and were negative for amplification of the MDM2, CDK4, c-MYC, HER-2/neu, CCND1, and COPS3 gene loci. To the best of our knowledge, this represents the first demonstration of monoallelic deletion of p53 in small cell osteosarcoma, suggesting that p53 alterations may play an important role in the development of small cell osteosarcoma as well as conventional osteosarcoma.

AB - Small cell osteosarcoma is a rare bone tumor of high-grade malignancy that most often arises in the metaphysis of long bones in the second decade of life. Cytogenetic and molecular genetic findings in small cell osteosarcoma are poorly defined. Conventional cytogenetic analysis of a small cell osteosarcoma arising in the proximal tibia of a 9-year-old male revealed a diploid chromosomal complement with complex structural rearrangements involving chromosomes 6, 16, and 17. Immunohistochemical assessment of p53 protein expression revealed nuclear p53 immunoreactivity in approximately 15% of the neoplastic cells. Subsequent fluorescence in situ hybridization (FISH) analyses confirmed loss of the p53 gene locus on the derivative chromosome 17 homolog and were negative for amplification of the MDM2, CDK4, c-MYC, HER-2/neu, CCND1, and COPS3 gene loci. To the best of our knowledge, this represents the first demonstration of monoallelic deletion of p53 in small cell osteosarcoma, suggesting that p53 alterations may play an important role in the development of small cell osteosarcoma as well as conventional osteosarcoma.

KW - Cytogenetics

KW - FISH

KW - Small cell osteosarcoma

KW - p53

UR - http://www.scopus.com/inward/record.url?scp=33744729027&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33744729027&partnerID=8YFLogxK

U2 - 10.1007/s00428-006-0181-x

DO - 10.1007/s00428-006-0181-x

M3 - Article

C2 - 16596382

AN - SCOPUS:33744729027

VL - 448

SP - 852

EP - 856

JO - Virchows Archiv

JF - Virchows Archiv

SN - 0945-6317

IS - 6

ER -