Clinical Correlations of Genetic Changes by Comparative Genomic Hybridization in Ewing Sarcoma and Related Tumors

Tarkkanen, Maija; Kiuru‐Kuhlefelt, Sonja; Blomqvist, Carl; Armengol, Gemma; Böhling, Tom; Ekfors, T; Virolainen, Martti; Lindholm, Paula; Picci, Piero; Knuutila, Sakari; Elomaa, Inkeri

doi:10.1016/s0165-4608(99)00031-x

Cited by 74 publications

(67 citation statements)

References 22 publications

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“…Chromosome 8 gains are also frequent in Ewing tumors. 38,39 Although we observed a high-level gain of 8q23-q24 in 24% of cases, MYC (8q24.12-q24.13) amplification has been reported to occur in only 7-12% of osteosarcomas. 40,41 Tarkannen et al 21 reported that a copy-number increase at 8q represents a statistically significant poor prognostic factor; we arrived at this same conclusion for 8q gains, but only when present in combination with losses of 13q14.…”

Section: Event-free Survival (Efs) In 41 Patients With Primary Tumormentioning

confidence: 47%

Genetic imbalances revealed by comparative genomic hybridization in osteosarcomas

Ozaki

Schaefer

Wai³

et al. 2002

Intl Journal of Cancer

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Section: Event-free Survival (Efs) In 41 Patients With Primary Tumormentioning

confidence: 47%

Genetic imbalances revealed by comparative genomic hybridization in osteosarcomas

Ozaki

Schaefer

Wai³

et al. 2002

Intl Journal of Cancer

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“…21 In synovial sarcoma, gains of 8q were significantly overrepresented in large tumors. 69 Furthermore, in Ewing sarcoma and related tumors, copy number increases of chromosome 8 were associated with trends towards worse metastasis-free and overall survival, 68 in osteosarcoma with a statistically significant poor metastasisfree survival, and in chondrosarcoma with shorter overall survival. 65 Our findings suggest that copy number increase at 8q24.1-q24.3 might reflect the aggressiveness and dissemination capacity of the tumor.…”

Section: Dna Copy Number Changes Associated With Metastasis In Leiomymentioning

confidence: 98%

“…However, losses of regions at 2q have been detected in osteosarcoma, with minimal common region 2q34-qter, 51 and a study of Ewing sarcoma and related tumors cases with gains at 6p21.1-pter showed a statistically significant decrease in metastasis-free and overall survival. 68 The number of previous studies on leiomyosarcoma is small and only few associations between DNA copy number changes in leiomyosarcoma and prognosis have been observed. 18,21,27,28 In the present study, we found that gains at 8q24.1-q24.3 were significantly associated with metastatic potential.…”

Section: Dna Copy Number Changes Associated With Metastasis In Leiomymentioning

confidence: 99%

Do DNA copy number changes differentiate uterine from non-uterine leiomyosarcomas and predict metastasis?

et al. 2006

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DNA copy number changes were investigated in 51 (19 uterine and 32 nonuterine) primary leiomyosarcomas by comparative genomic hybridization. The aim was to evaluate whether true biological differences exist between uterine and nonuterine leiomyosarcoma and whether changes revealed by comparative genomic hybridization have prognostic value. Genomic imbalances were found in 48 (94%) cases. The most frequent DNA copy number changes were losses in 10q (35%), 13q (57%), and 16q (41%), gains in 1q (41%), and gains and high-level amplifications in 17p (39%). Gains were nearly as frequent as losses in both uterine and nonuterine leiomyosarcoma. Correlation-based tree modeling revealed two clusters that segregated significantly a group of uterine (gains at 1q11-q24) and a group of nonuterine (losses at 13q14-q34, 16q11.1-q24, and 10q21-q26) cases. The nonuterine cluster was associated with subcutaneous origin and a trend toward increased metastasis-free survival. Further explorative analyses identified aberrations associated with shorter metastasisfree survival time, including losses at 2q32.1-q37 and gains at 8q24.1-q24.3, whereas the cases with losses at 6cen-p25 showed longer metastasis-free survival time.

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“…Additional structural aberrations are less common than numerical changes, although unbalanced rearrangements involving chromosomes 1 and 16 are quite frequently seen. In the majority of these cases the net imbalance is gain of 1q with simultaneous loss of 16q (Mugneret et al, 1988;Douglass et al, 1990;Hattinger et al, 1996;Armengol et al, 1997;Stark et al, 1997;Kullendorff et al, 1999;Tarkkanen et al, 1999).…”

mentioning

confidence: 99%

Prognostic impact of chromosomal aberrations in Ewing tumours

et al. 2002

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Although greater than 50% of Ewing tumours contain non-random cytogenetic aberrations in addition to the pathognomonic 22q12 rearrangements, little is known about their prognostic significance. To address this question, tumour samples from 134 Ewing tumour patients were analysed using a combination of classical cytogenetics, comparative genomic and fluorescence in situ hybridisation. The evaluation of the compiled data revealed that gain of chromosome 8 occurred in 52% of Ewing tumours but was not a predictive factor for outcome. Gain of 1q was associated with adverse overall survival and event-free survival in all patients, irrespective of whether the tumour was localised or disseminated (overall survival: P=0.002 and P=0.029; eventfree survival: P=0.018 and P=0.010). Loss of 16q was a significant predictive factor for adverse overall survival in all patients (P=0.008) and was associated with disseminated disease at diagnosis (P=0.039). Gain of chromosome 12 was associated with adverse event-free survival (P=0.009) in patients with localised disease. These results indicate that in addition to a 22q12 rearrangement confirmation in Ewing tumours it is important to assess the copy number of 1q and 16q to identify patients with a higher probability of adverse outcome.

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Clinical Correlations of Genetic Changes by Comparative Genomic Hybridization in Ewing Sarcoma and Related Tumors

Cited by 74 publications

References 22 publications

Genetic imbalances revealed by comparative genomic hybridization in osteosarcomas

Genetic imbalances revealed by comparative genomic hybridization in osteosarcomas

Do DNA copy number changes differentiate uterine from non-uterine leiomyosarcomas and predict metastasis?

Prognostic impact of chromosomal aberrations in Ewing tumours

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