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Analysis of mutations in the p16/ CDKN2A gene in sporadic and familial melanoma in the Polish population.

100%
Lamperska K., Karczewska A., Kwiatkowska E., Mackiewicz A.
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2002
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vol. 49
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issue 2
369-376
EN
Mutations in CDKN2A have been found in sporadic cutaneous malignant (CMM), in familial CMM and in other syndromes associated with melanoma. In this study DNA was obtained from 207 individuals and five cell lines. There were 157 CMM patients and 50 healthy members of melanoma patients families. The CMM group included patients with one or two melanoma cases in the family, families with dysplastic nevus syndrom (DNS) and patients with a spectrum of other types of cancers in the family. PCR-SSCP analysis and sequencing identified: six substitutions in codon 58 CGA/TGA (Arg/Stop), 16 substitutions GAC/GAT in codon 84 (Asp/Asp), six substitutions CGA /TGA in codon 148 (Arg/Thr), 14 substitutions G/C in 3'UTR and 4 double changes (two in codon 84 and 3'UTR; two in codon 148 and 3'UTR). The mutation identified in codon 58 was found in tissue only. Other substitutions were polymorphisms found in DNA from tissue and blood samples. Most of them were identified in sporadic CMM (six in codon 148 Ala /Thr, 12 in codon 84 Asp/Asp and six in 3'UTR). The frequency of the polymorphisms was also high in DNS and CMM/DNS families (four in codon 84 Asp/Asp and six in 3'UTR). No mutations or polymorphisms were found in CMM patients with one or two melanoma cases and CMM patients, with other cancers in family history. The analysis of the CDKN2A gene mutations in the Polish population demonstrated: (i) no germline mutations; (ii) a relatively high number of genetic changes in sporadic melanoma; (iii) a high number of polymorphisms in DNS and CMM/DNS families.
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Expression of p16 in sporadic primary uveal melanoma.

64%
Lamperska K., Mackiewicz K., Kaczmarek A., Kwiatkowska E., Starzycka M., Romanowska B., Heizman J., Stachura J., Mackiewicz A.
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2002
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vol. 49
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issue 2
377-385
EN
Expression of p16 protein, intragenic mutations of CDKN2A and hypermethylation of CDKN2A promoter region in 41 sporadic primary uveal melanomas were studied. There were 2 cases of spindle cell B histological type, 11 of A + B and 28 of mixed type. All melanomas infiltrated sclera but in 28 cases infiltration was superficial while in 13 profound. In 7 cases the tumor infiltrated the optic nerve. Expression of p16 was studied by immunohistochemistry and recorded by assessment of the proportion of positive tumor cells and staining intensity. Results were expressed as staining index (IRS). Intragenic mutations were studied by PCR-SSCP followed by sequencing, while hypermethylation of the promoter region by CpG methylation assay. In 15% of cases less than 10% of melanoma cells were p16 positive, in 70% of cases less than 50% of cells, while in 7% more than 80% of cells stained for p16 (mean IRS for all cases was 4.87 ± 2.43). In B type the IRS was 8.5 ± 0.7, in A + B type 6.0 ± 2.1 and in the mixed type 4.17 ± 2.43 (differences statistically significant). In melanomas profoundly infiltrating sclera mean IRS was 4.16, while in those infiltrating optic nerve 3.71 (statistically not significant). Analysis of the intragenic mutations revealed in two patients a GAC/GAT substitution in codon 84 - a silent mutation. No hypermethylation of the CpG island of the p16 promoter region was found. In conclusion, we found that the degree of p16 expression is related to the histological type of tumor but not to the histological indicators of tumor invasiveness and that intragenic mutations and promoter hypermethylation are not major mechanisms of p16 inactivation in sporadic uveal melanoma.
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