Definition of the role of chromosome 9p21 in sporadic melanoma through genetic analysis of primary tumours and their metastases. The Melanoma Cooperative Group.
Definition of the role of chromosome 9p21 in sporadic melanoma through genetic analysis of primary tumours and their metastases. The Melanoma Cooperative Group.
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DOI：
10.1054/bjoc.2000.1513
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发表时间：
2000-12
影响因子：
8.8
通讯作者：
Melanoma Cooperative Group
中科院分区：
文献类型：
--
作者：
Palmieri G;Cossu A;Ascierto PA;Botti G;Strazzullo M;Lissia A;Colombino M;Casula M;Floris C;Tanda F;Pirastu M;Castello G;Melanoma Cooperative Group
恶性黑色素瘤（MM）被认为是由正常黑素细胞中遗传变异的连续积累引起的。先前的细胞遗传学和分子生物学研究表明9 p21是参与MM发病机制的染色体区域。除了CDKN基因（p16/CDKN 2A、p15/CDKN 2B和p19 ARF，在家族性MM中经常失活），广泛报道的数据表明在该区域内存在其他黑素瘤易感基因。为了清楚地评估9 p21区域在散发性黑色素瘤中的作用，我们使用9个来自9 p21的17 cM区域的多态性标记，评估了原发性肿瘤以及来自相同MM患者的同步或异步转移瘤中微卫星不稳定性（MSI）和杂合性丢失（洛）的存在。在分析的66例原发性肿瘤中，分别有27例（41%）和11例（17%）发现了洛缺失和MSI。在58例转移瘤中，MSI的检出率较高（22; 38%），而等位基因缺失的模式完全相同，有27例（47%）为洛+。虽然CDKN位点主要受洛缺失的影响，但还鉴定了与标记D9 S171对应的额外的常见等位基因缺失区域。未观察到任何9 p21基因改变（洛、MSI或两者）与临床病理参数之间的统计学相关性。© 2000年癌症研究运动http://www.bjcancer.com
Malignant melanoma (MM) is thought to arise by sequential accumulation of genetic alterations in normal melanocytes. Previous cytogenetic and molecular studies indicated the 9p21 as the chromosomal region involved in MM pathogenesis. In addition to the CDKN genes (p16/CDKN2A, p15/CDKN2B and p19ARF, frequently inactivated in familial MM), widely reported data suggested the presence within this region of other melanoma susceptibility gene(s). To clearly assess the role of the 9p21 region in sporadic melanoma, we evaluated the presence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in primary tumours as well as in synchronous or asynchronous metastases obtained from the same MM patients, using 9 polymorphic markers from a 17-cM region at 9p21. LOH and MSI were found in 27 (41%) and 11 (17%), respectively, out of 66 primary tumours analysed. In corresponding 58 metastases, MSI was found at higher rate (22; 38%), whereas a quite identical pattern of allelic deletions with 27 (47%) LOH+ cases were observed. Although the CDKN locus was mostly affected by LOH, an additional region of common allelic deletion corresponding to marker D9S171 was also identified. No significant statistical correlation between any 9p21 genetic alteration (LOH, MSI or both) and clinicopathological parameters was observed. © 2000 Cancer Research Campaign http://www.bjcancer.com
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影响因子：
2.2
作者：
Kumar, R;Smeds, J;Hemminki, K
通讯作者：
Hemminki, K
DOI：
10.1111/j.1349-7006.1999.tb00841.x
发表时间：
1999-09
期刊：
Japanese journal of cancer research : Gann
影响因子：
--
作者：
Ohgaki K;Minobe K;Kurose K;Iida A;Habuchi T;Ogawa O;Kubota Y;Akimoto M;Emi M
通讯作者：
Emi M
影响因子：
82.9
作者：
MERLO, A;HERMAN, JG;SIDRANSKY, D
通讯作者：
SIDRANSKY, D
影响因子：
3.7
作者：
Liu, L;Goldstein, AM;Lassam, NJ
通讯作者：
Lassam, NJ
影响因子：
30.8
作者：
KAMB, A;SHATTUCKEIDENS, D;CANNONALBRIGHT, LA
通讯作者：
CANNONALBRIGHT, LA