Wiltshire R N, Elner V M, Dennis T, Vine A K, Trent J M
Department of Human Genetics, University of Michigan Medical Center, Ann Arbor 48109-0668.
Cancer Genet Cytogenet. 1993 Mar;66(1):47-53. doi: 10.1016/0165-4608(93)90148-f.
Cytogenetic analysis was performed on short-term cultures of primary tumor samples from seven patients with posterior uveal melanoma. Informative data were obtained from four patients, all of whom had a near-diploid chromosomal number and clonal chromosomal alterations. Analysis of one patient's tumor revealed monosomy 3 as the only cytogenetically distinguishable aberration. Trisomies of chromosome 8 and i(8)(q10) were detected in two other patients in combination with monosomy of chromosome 3. The fourth patient's karyotype displayed two different translocations. One translocation, der(6)t(6;8)(q12;q13.1), resulted in the over-representation of 8q13.1-->qter and a partial monosomy of 6q12-->qter; the other translocation, der(9)t(6;9)(p12;p23), produced a partial trisomy of 6p12-->pter and a partial monosomy of 9p23-->pter. These results support the view that the recurring pattern of chromosomal rearrangements in ocular melanoma is unique from that associated with cutaneous malignant melanoma. Furthermore, these results help confirm that chromosomes 3, 6, and 8 are nonrandomly altered in ocular melanoma.
对7例后葡萄膜黑色素瘤患者的原发性肿瘤样本进行短期培养，并进行细胞遗传学分析。从4例患者中获得了有用数据，所有这些患者的染色体数目均接近二倍体且存在克隆性染色体改变。对1例患者的肿瘤分析显示，3号染色体单体性是唯一可通过细胞遗传学区分的畸变。在另外2例患者中检测到8号染色体三体性和i(8)(q10)，同时伴有3号染色体单体性。第4例患者的核型显示有两种不同的易位。一种易位，der(6)t(6;8)(q12;q13.1)，导致8q13.1→qter过度表达和6q12→qter部分单体性；另一种易位，der(9)t(6;9)(p12;p23)，产生6p12→pter部分三体性和9p23→pter部分单体性。这些结果支持这样一种观点，即眼黑色素瘤中反复出现的染色体重排模式与皮肤恶性黑色素瘤相关的模式不同。此外，这些结果有助于证实3号、6号和8号染色体在眼黑色素瘤中发生了非随机改变。
