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Cytogenetic aberrations and their prognostic impact in chondrosarcoma

Mandahl, Nils LU ; Gustafson, Pelle LU ; Mertens, Fredrik LU ; Åkerman, Måns LU ; Baldetorp, Bo LU ; Gisselsson, David LU ; Knuutila, Sakari; Bauer, Henrik C F and Larsson, O (2002) In Genes, Chromosomes and Cancer 33(2). p.188-200
Abstract

Chondrosarcoma is the second most common primary malignancy of bone. Cytogenetic data are available from close to 100 cases, including all subtypes of chondrosarcoma. Specific chromosomal rearrangements have been identified only in extraskeletal myxoid chondrosarcoma (EMC). Strong prognostic factors are largely missing, although size and, in particular, histologic tumor grade have been implicated. In the present study, we investigated the genomic aberrations in 59 chondrosarcomas (six grade 1, 24 grade 2, and 29 grade 3, including dedifferentiated tumors), excluding EMC, by chromosome banding analysis and DNA flow cytometry and correlated the findings with clinical outcome. Hyperhaploid to near-diploid karyotypes were found in half of... (More)

Chondrosarcoma is the second most common primary malignancy of bone. Cytogenetic data are available from close to 100 cases, including all subtypes of chondrosarcoma. Specific chromosomal rearrangements have been identified only in extraskeletal myxoid chondrosarcoma (EMC). Strong prognostic factors are largely missing, although size and, in particular, histologic tumor grade have been implicated. In the present study, we investigated the genomic aberrations in 59 chondrosarcomas (six grade 1, 24 grade 2, and 29 grade 3, including dedifferentiated tumors), excluding EMC, by chromosome banding analysis and DNA flow cytometry and correlated the findings with clinical outcome. Hyperhaploid to near-diploid karyotypes were found in half of the cases, and there was a good correlation between cytogenetics and flow cytometry data; discrepancies were seen primarily in cases with normal karyotypes and in those with -Y as the sole anomaly. Abnormal karyotypes, excluding those with -Y as the only change, were found in 36 cases. No recurrent structural aberration was found, but a nonrandom pattern of aberrations was seen. Total or partial gains and losses were the dominant karyotypic features. Genomic imbalances found in at least 10 cases included -1p36, -1p13-p22, -4, -5q13-q31, -6q22-qter, +7p13-pter, -9p22-pter, -10p, -10q24-qter, -11p13-pter, -11q25, +12q15-qter, -13q21-qter, -14q24-qter, -18p, -18q22-qter, +19, +20pter-q11, +21q, and -22q13. At the latest follow-up, 19 patients had experienced distant metastases, and the 5-year metastasis-free survival rate was 0.69. By univariate analysis, malignancy grade and loss of material from 6q, 10p, 11p or 11q, 13q, and 22q were associated with impaired metastasis-free survival. Only -13q was an independent prognostic factor for metastasis, regardless of tumor grade or size.

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keywords
Adolescent, Adult, Aged, Aged, 80 and over, Bone Neoplasms, Chondrosarcoma, Chromosome Aberrations, Cytogenetic Analysis, Female, Flow Cytometry, Humans, Male, Middle Aged, Multivariate Analysis, Prognosis, Journal Article, Research Support, Non-U.S. Gov't
in
Genes, Chromosomes and Cancer
volume
33
issue
2
pages
13 pages
publisher
John Wiley & Sons
external identifiers
  • wos:000173107000010
  • pmid:11793445
  • scopus:0036144612
ISSN
1045-2257
DOI
10.1002/gcc.10012
language
English
LU publication?
yes
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06e4bc2e-9184-442a-8fa4-282dceb395ed (old id 106623)
alternative location
http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11793445&dopt=Abstract
date added to LUP
2007-07-08 11:31:21
date last changed
2017-09-03 03:57:45
@article{06e4bc2e-9184-442a-8fa4-282dceb395ed,
  abstract     = {<p>Chondrosarcoma is the second most common primary malignancy of bone. Cytogenetic data are available from close to 100 cases, including all subtypes of chondrosarcoma. Specific chromosomal rearrangements have been identified only in extraskeletal myxoid chondrosarcoma (EMC). Strong prognostic factors are largely missing, although size and, in particular, histologic tumor grade have been implicated. In the present study, we investigated the genomic aberrations in 59 chondrosarcomas (six grade 1, 24 grade 2, and 29 grade 3, including dedifferentiated tumors), excluding EMC, by chromosome banding analysis and DNA flow cytometry and correlated the findings with clinical outcome. Hyperhaploid to near-diploid karyotypes were found in half of the cases, and there was a good correlation between cytogenetics and flow cytometry data; discrepancies were seen primarily in cases with normal karyotypes and in those with -Y as the sole anomaly. Abnormal karyotypes, excluding those with -Y as the only change, were found in 36 cases. No recurrent structural aberration was found, but a nonrandom pattern of aberrations was seen. Total or partial gains and losses were the dominant karyotypic features. Genomic imbalances found in at least 10 cases included -1p36, -1p13-p22, -4, -5q13-q31, -6q22-qter, +7p13-pter, -9p22-pter, -10p, -10q24-qter, -11p13-pter, -11q25, +12q15-qter, -13q21-qter, -14q24-qter, -18p, -18q22-qter, +19, +20pter-q11, +21q, and -22q13. At the latest follow-up, 19 patients had experienced distant metastases, and the 5-year metastasis-free survival rate was 0.69. By univariate analysis, malignancy grade and loss of material from 6q, 10p, 11p or 11q, 13q, and 22q were associated with impaired metastasis-free survival. Only -13q was an independent prognostic factor for metastasis, regardless of tumor grade or size.</p>},
  author       = {Mandahl, Nils and Gustafson, Pelle and Mertens, Fredrik and Åkerman, Måns and Baldetorp, Bo and Gisselsson, David and Knuutila, Sakari and Bauer, Henrik C F and Larsson, O},
  issn         = {1045-2257},
  keyword      = {Adolescent,Adult,Aged,Aged, 80 and over,Bone Neoplasms,Chondrosarcoma,Chromosome Aberrations,Cytogenetic Analysis,Female,Flow Cytometry,Humans,Male,Middle Aged,Multivariate Analysis,Prognosis,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {2},
  pages        = {188--200},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {Cytogenetic aberrations and their prognostic impact in chondrosarcoma},
  url          = {http://dx.doi.org/10.1002/gcc.10012},
  volume       = {33},
  year         = {2002},
}