Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma

Sarah Birindelli, Gabrina Tragni, Cesare Bartoli, Guglielmina N. Ranzani, Franco Rilke, Marco A. Pierotti, Silvana Pilotti

Research output: Contribution to journalArticle

Abstract

We studied a group of patients with or without individual or family history of melanoma for the occurrence of genetic alterations at microsatellite DNA sequences, usually referred to as microsatellite instability (MSI), and loss of heterozygosity (LOH). Microsatellite analysis of 3 markers located on chromosome 9p21-22 was performed for 88 melanocytic lesions, including 27 melanomas and 3S dysplastic and 26 common nevi, from 48 patients. Three additional markers, on 11q23, 17q21 and 5q22, were investigated in 16 melanomas. Overall, microsatellite alterations of the type usually considered low-level instability at 9p21-22 were observed in 22% of melanomas and 31% of dysplastic and 23% of common nevi. LOH at the same loci was found in 15% of melanomas and 8% of dysplastic nevi but never in common nevi. Cases with a positive family history of melanoma compared to those with a negative family history showed a higher microsatellite alteration frequency (43% vs. 20%), and the same was observed in melanoma compared to non-melanoma carriers (31% vs. 16%). Our results show that (i) MSI is common in all melanocytic lesions, though with differences in the group of patients which could have clinical relevance if confirmed, whereas LOH is restricted to melanomas and dysplastic nevi; (ii) various melanocytic lesions from the same patient represent clonally distinct tumors; (iii) the phenotype suggestive of DNA repair deficiency is influenced by a family or an individual history of melanoma; (iv) the microsatellite alteration frequency correlates with patient groups ordered according to increasing melanoma risk. (C) 2000 Wiley- Liss, Inc.

Original languageEnglish
Pages (from-to)255-261
Number of pages7
JournalInternational Journal of Cancer
Volume86
Issue number2
DOIs
Publication statusPublished - 2000

Fingerprint

Pigmented Nevus
Microsatellite Repeats
Melanoma
Loss of Heterozygosity
Nevus
Dysplastic Nevus Syndrome
Microsatellite Instability
DNA Repair-Deficiency Disorders
Chromosomes, Human, Pair 22
Phenotype

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma. / Birindelli, Sarah; Tragni, Gabrina; Bartoli, Cesare; Ranzani, Guglielmina N.; Rilke, Franco; Pierotti, Marco A.; Pilotti, Silvana.

In: International Journal of Cancer, Vol. 86, No. 2, 2000, p. 255-261.

Research output: Contribution to journalArticle

Birindelli, Sarah ; Tragni, Gabrina ; Bartoli, Cesare ; Ranzani, Guglielmina N. ; Rilke, Franco ; Pierotti, Marco A. ; Pilotti, Silvana. / Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma. In: International Journal of Cancer. 2000 ; Vol. 86, No. 2. pp. 255-261.
@article{dabaa09a1b6743d5b06c778aaf5c1ce5,
title = "Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma",
abstract = "We studied a group of patients with or without individual or family history of melanoma for the occurrence of genetic alterations at microsatellite DNA sequences, usually referred to as microsatellite instability (MSI), and loss of heterozygosity (LOH). Microsatellite analysis of 3 markers located on chromosome 9p21-22 was performed for 88 melanocytic lesions, including 27 melanomas and 3S dysplastic and 26 common nevi, from 48 patients. Three additional markers, on 11q23, 17q21 and 5q22, were investigated in 16 melanomas. Overall, microsatellite alterations of the type usually considered low-level instability at 9p21-22 were observed in 22{\%} of melanomas and 31{\%} of dysplastic and 23{\%} of common nevi. LOH at the same loci was found in 15{\%} of melanomas and 8{\%} of dysplastic nevi but never in common nevi. Cases with a positive family history of melanoma compared to those with a negative family history showed a higher microsatellite alteration frequency (43{\%} vs. 20{\%}), and the same was observed in melanoma compared to non-melanoma carriers (31{\%} vs. 16{\%}). Our results show that (i) MSI is common in all melanocytic lesions, though with differences in the group of patients which could have clinical relevance if confirmed, whereas LOH is restricted to melanomas and dysplastic nevi; (ii) various melanocytic lesions from the same patient represent clonally distinct tumors; (iii) the phenotype suggestive of DNA repair deficiency is influenced by a family or an individual history of melanoma; (iv) the microsatellite alteration frequency correlates with patient groups ordered according to increasing melanoma risk. (C) 2000 Wiley- Liss, Inc.",
author = "Sarah Birindelli and Gabrina Tragni and Cesare Bartoli and Ranzani, {Guglielmina N.} and Franco Rilke and Pierotti, {Marco A.} and Silvana Pilotti",
year = "2000",
doi = "10.1002/(SICI)1097-0215(20000415)86:2<255::AID-IJC16>3.0.CO;2-L",
language = "English",
volume = "86",
pages = "255--261",
journal = "International Journal of Cancer",
issn = "0020-7136",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma

AU - Birindelli, Sarah

AU - Tragni, Gabrina

AU - Bartoli, Cesare

AU - Ranzani, Guglielmina N.

AU - Rilke, Franco

AU - Pierotti, Marco A.

AU - Pilotti, Silvana

PY - 2000

Y1 - 2000

N2 - We studied a group of patients with or without individual or family history of melanoma for the occurrence of genetic alterations at microsatellite DNA sequences, usually referred to as microsatellite instability (MSI), and loss of heterozygosity (LOH). Microsatellite analysis of 3 markers located on chromosome 9p21-22 was performed for 88 melanocytic lesions, including 27 melanomas and 3S dysplastic and 26 common nevi, from 48 patients. Three additional markers, on 11q23, 17q21 and 5q22, were investigated in 16 melanomas. Overall, microsatellite alterations of the type usually considered low-level instability at 9p21-22 were observed in 22% of melanomas and 31% of dysplastic and 23% of common nevi. LOH at the same loci was found in 15% of melanomas and 8% of dysplastic nevi but never in common nevi. Cases with a positive family history of melanoma compared to those with a negative family history showed a higher microsatellite alteration frequency (43% vs. 20%), and the same was observed in melanoma compared to non-melanoma carriers (31% vs. 16%). Our results show that (i) MSI is common in all melanocytic lesions, though with differences in the group of patients which could have clinical relevance if confirmed, whereas LOH is restricted to melanomas and dysplastic nevi; (ii) various melanocytic lesions from the same patient represent clonally distinct tumors; (iii) the phenotype suggestive of DNA repair deficiency is influenced by a family or an individual history of melanoma; (iv) the microsatellite alteration frequency correlates with patient groups ordered according to increasing melanoma risk. (C) 2000 Wiley- Liss, Inc.

AB - We studied a group of patients with or without individual or family history of melanoma for the occurrence of genetic alterations at microsatellite DNA sequences, usually referred to as microsatellite instability (MSI), and loss of heterozygosity (LOH). Microsatellite analysis of 3 markers located on chromosome 9p21-22 was performed for 88 melanocytic lesions, including 27 melanomas and 3S dysplastic and 26 common nevi, from 48 patients. Three additional markers, on 11q23, 17q21 and 5q22, were investigated in 16 melanomas. Overall, microsatellite alterations of the type usually considered low-level instability at 9p21-22 were observed in 22% of melanomas and 31% of dysplastic and 23% of common nevi. LOH at the same loci was found in 15% of melanomas and 8% of dysplastic nevi but never in common nevi. Cases with a positive family history of melanoma compared to those with a negative family history showed a higher microsatellite alteration frequency (43% vs. 20%), and the same was observed in melanoma compared to non-melanoma carriers (31% vs. 16%). Our results show that (i) MSI is common in all melanocytic lesions, though with differences in the group of patients which could have clinical relevance if confirmed, whereas LOH is restricted to melanomas and dysplastic nevi; (ii) various melanocytic lesions from the same patient represent clonally distinct tumors; (iii) the phenotype suggestive of DNA repair deficiency is influenced by a family or an individual history of melanoma; (iv) the microsatellite alteration frequency correlates with patient groups ordered according to increasing melanoma risk. (C) 2000 Wiley- Liss, Inc.

UR - http://www.scopus.com/inward/record.url?scp=0034033843&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034033843&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1097-0215(20000415)86:2<255::AID-IJC16>3.0.CO;2-L

DO - 10.1002/(SICI)1097-0215(20000415)86:2<255::AID-IJC16>3.0.CO;2-L

M3 - Article

C2 - 10738254

AN - SCOPUS:0034033843

VL - 86

SP - 255

EP - 261

JO - International Journal of Cancer

JF - International Journal of Cancer

SN - 0020-7136

IS - 2

ER -