title: Cytogenetic aberrations and their prognostic impact in chondrosarcoma.
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 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.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden. nils.mandahl@klingen.lu.se
authors.forename: Nils
authors.initials: N
authors.lastname: Mandahl
authors.forename: Pelle
authors.initials: P
authors.lastname: Gustafson
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
authors.forename: Måns
authors.initials: M
authors.lastname: Akerman
authors.forename: Bo
authors.initials: B
authors.lastname: Baldetorp
authors.forename: David
authors.initials: D
authors.lastname: Gisselsson
authors.forename: Sakari
authors.initials: S
authors.lastname: Knuutila
authors.forename: Henrik C F
authors.initials: HC
authors.lastname: Bauer
authors.forename: Olle
authors.initials: O
authors.lastname: Larsson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D002813:Chondrosarcoma / Q000175:diagnosis* / Q000235:genetics*; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods / Q000706:statistics & numerical data; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D011379:Prognosis