Genetic instability in primary leiomyosarcoma of bone

Verelst, Sven J.G.; Hans, Joachim; Hanselmann, R.; Wirbel, Reiner

doi:10.1016/j.humpath.2004.06.009

Cited by 8 publications

(6 citation statements)

References 25 publications

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“…Related LOH was found in 50 % of osteosarcomas [27] and in 20% of leiomyosarcomas [9]. In our series, we observed genomic alterations in 75% at the microsatellite located nearby the hTR gene, in one third of theses cases presented as MSI.…”

Section: Discussionsupporting

confidence: 51%

“…Specimes of formalin-fixed, paraffin embedded 7µm tissue sections containing both, tumour and surrounding normal tissue, were deparaffinized and stained with haemalaun. DNA was extracted using a microdissection device as previously described in [9]. The precipitated DNA was used for polymerase chain reactin (PCR) analysis.…”

Section: Microsatellite Analysismentioning

confidence: 99%

“…The technique commonly used at the former times of the study period is extensively described in [9].…”

Section: Analysis Of Respective Microsatellitesmentioning

confidence: 99%

“…The chosen oligonucleotide repeat markers should located in the neighborhood of well-known tumour suppressor genes (p53, p16, rb1, hTR), or of the mismatch repair genes (hMSH2, hMLH1), respectively (genes linked with each marker are provided in parentheses): D2S136 (hMSH2), D3S1076 (hMLH1), D17S250 (p53), D9S942 (p16), D13S153 (rb1), and D3S1246 (hTR) (9). PCR was performed in the Qiagen Hotstar Taq Mastermix kit (Fa.…”

Section: Analysis Of Respective Microsatellitesmentioning

confidence: 99%

“…After the promising results of studying genetic instability in the defined entity of intraosseous leiomyosarcoma [9], the aim of the present study was to evaluate the occurrence of genetic instability in different STS. The correlation with the oncologic long-term outcome was established by using the findings of patients with a follow-up of at least 10 years.…”

Section: Introductionmentioning

confidence: 99%

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Correlation of Oncologic Long-Term Results and Genetic Instability in Soft Tissue Sarcomas

Wirbel¹,

Weber²,

Hans³

et al. 2014

CRJ

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Abstract:Purpose: Soft tissue sarcomas (STS) represent a heterotop group of tumours. Microsatellite instabilities (MSI) and loss of heterozygosity (LOH) as phenomena of a genetic instability should be analysed in STS and correlated with the long-term oncologic outcome. Methods: Patients treated for a STS with a follow-up of at least 10 years were included. Thus, 86 patients (mean age 50.5 years, range 16-86 years) treated for a STS between 1993 and 2000 were routinely controlled every 6 months. Incidence of local recurrences, distant metastases, and overall survival were analysed. Sixty-six tumour samples were available for microsatellite analysis using the former traditional method of PCR amplification at 6 loci in the neighbourhood of hMSH2, hMLH1, p53, p16, rb1, and hTR. Results: There were 30 low-grade and 56 high-grade sarcomas. The mean follow-up was 144 months (120-192 months). Twenty-nine patients died of their disease. Local recurrences were seen in 13 patients, whereas metastases were noticed in 23 patients. The overall survival was dependent on the tumour stage (p<0.05), whereas the local tumour control (incidence of local recurrence) was influenced by the surgical margin achieved (p<0.05). The molecular biologic findings revealed 67% of the investigated loci as informative. MSI was found in 6.8% of the informative loci, whereas LOH in 18.8%, respectively. LOH was present in high-grade tumours in 23.8%, whereas in 1.7% in low-grade tumours. In high-grade sarcomas, the 5-year and 10-year survival probabilities were significantly lower in LOH-positive tumours (48.6% and 38%) than in LOH-negative tumours (72.5% and 62%). Conclusion: The overall survival in soft tissue sarcoma is mainly influenced by the tumour stage. In high-grade sarcomas, the survival rate will drop even after 5 years. The detection of loss of heterozygosity represents a negative prognostic predictor in high-grade sarcomas. Microsatellite instability is a rare phenomenon supposing no relevance in the oncogenesis and tumour progression of soft tissue sarcomas.

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Section: Discussionsupporting

confidence: 51%

Section: Microsatellite Analysismentioning

confidence: 99%

“…The technique commonly used at the former times of the study period is extensively described in [9].…”

Section: Analysis Of Respective Microsatellitesmentioning

confidence: 99%

Section: Analysis Of Respective Microsatellitesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%