Tomlinson I P, Gammack A J, Stickland J E, Mann G J, MacKie R M, Kefford R F, McGee J O
Nuffield Department of Pathology, University of Oxford, John Radcliffe Hospital, United Kingdom.
Genes Chromosomes Cancer. 1993 Jul;7(3):169-72. doi: 10.1002/gcc.2870070310.
Forty-six cases of sporadic melanoma have been investigated for loss of heterozygosity at 4 loci: D11S29 (11q23), YNZ22 (17p13.3), TP53 (17p13.1); and NM23 (17q22). Each of the loci is thought to be important in the pathogenesis of other tumours. Mutations were found infrequently at the YNZ22, NM23, and TP53 loci. At D11S29, however, the frequency of mutation in the melanoma samples was high (67%) and mutations at this locus were associated with younger age at presentation. This region of chromosome 11 is also commonly mutated in breast cancers and haematological malignancies. Genetic aberrations at D11S29 may therefore represent nonspecific mutations found in several malignancies or part of a pathway common to the malignant phenotype.
对46例散发性黑色素瘤患者进行了研究，检测其4个基因座的杂合性缺失情况，这4个基因座分别为：D11S29（11q23）、YNZ22（17p13.3）、TP53（17p13.1）和NM23（17q22）。每个基因座被认为在其他肿瘤的发病机制中具有重要作用。在YNZ22、NM23和TP53基因座上很少发现突变。然而，在D11S29基因座上，黑色素瘤样本中的突变频率很高（67%），且该基因座的突变与发病时年龄较轻有关。11号染色体的这个区域在乳腺癌和血液系统恶性肿瘤中也经常发生突变。因此，D11S29基因座的遗传畸变可能代表在几种恶性肿瘤中发现的非特异性突变，或是恶性表型共同通路的一部分。
