Department of Ophthalmology, Leiden University Medical Center, the Netherlands.
Arch Pathol Lab Med. 2011 Aug;135(8):1042-7. doi: 10.5858/2010-0477-OAR1.
Fluorescence in situ hybridization (FISH) analyses on tumor sections and on isolated nuclei showed that even low numbers of cells with monosomy of chromosome 3 adversely affected survival.
To determine what percentage of uveal melanoma cells with monosomy of chromosome 3 influences patient mortality.
To determine the presence of monosomy 3, karyotyping and FISH on cultured cells and FISH on isolated nuclei were performed on 50 primary uveal melanomas. Clinical and pathologic prognostic factors were assessed and compared with 5-year survival data. Analyses were performed using Cox proportional hazards test, log-rank analysis, sensitivity, specificity, and positive and negative likelihood ratios.
Combined karyotyping and FISH on cultured cells showed monosomy 3 in 19 of 50 cases (38%), whereas determination of the monosomy 3 status by FISH on isolated nuclei with a threshold of 5% assigned 31 of 50 cases (62%) to the monosomy-3 category. When monosomy 3 on isolated nuclei with a cutoff value of 5% was used, a significant difference in 5-year survival was present (hazard ratio, 15.5; P = .007), indicating that monosomy 3 in greater than 5% of tumor cells is related to death due to metastases.
In uveal melanoma, the presence of greater than 5% of cells with monosomy 3, as determined by FISH on isolated nuclei, is associated with the development of metastases within 5 years after enucleation.
肿瘤切片和分离核的荧光原位杂交（FISH）分析表明，即使是染色体 3 单体数较低的细胞数量也会对存活产生不利影响。
确定染色体 3 单体数的多少会影响患者的死亡率。
为了确定 3 号染色体单体的存在，对 50 例原发性葡萄膜黑色素瘤的培养细胞进行了核型分析和 FISH，对分离的核进行了 FISH。评估了临床和病理预后因素，并与 5 年生存率数据进行了比较。使用 Cox 比例风险检验、对数秩分析、敏感性、特异性以及阳性和阴性似然比进行了分析。
联合培养细胞的核型分析和 FISH 显示，50 例中有 19 例（38%）存在 3 号染色体单体，而通过分离核的 FISH 确定 3 号染色体单体的状态，阈值为 5%时，50 例中有 31 例（62%）被归入 3 号染色体单体组。当使用 5%的截断值对分离核进行 FISH 检测时，5 年生存率存在显著差异（危险比，15.5；P =.007），表明 5%以上的肿瘤细胞存在 3 号染色体单体与转移导致的死亡有关。
在葡萄膜黑色素瘤中，通过分离核的 FISH 检测到存在大于 5%的细胞存在 3 号染色体单体，与眼球摘除后 5 年内发生转移有关。
