Long Christopher P, Coley Nicholas, Thorson John, Lin Jonathan H
Department of Ophthalmology, Roski Eye Institute, University of Southern California, 1450 San Pablo St #4400, Los Angeles, CA 90033, USA.
Diagnostic Pathology Medical Group, 3301 C St, Suite 200E, Sacramento, CA 95816, USA.
Diagnostics (Basel). 2023 Mar 2;13(5):946. doi: 10.3390/diagnostics13050946.
Uveal melanoma is the most common primary ocular tumor in adults and causes morbidity through lymphovascular metastasis. The presence of monosomy 3 in uveal melanomas is one of the most important prognostic indicators for metastasis. Two major molecular pathology testing modalities used to assess monosomy 3 are fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA). Here, we report two cases of discordant monosomy 3 test results in uveal melanoma enucleation specimens, performed using these molecular pathology tests. The first case is of uveal melanoma from a 51-year-old male that showed no evidence of monosomy 3 when assessed by CMA, but where it was subsequently detected by FISH. The second case is of uveal melanoma from a 49-year-old male that showed monosomy 3 at the limit of detection when assessed by CMA, but where it was not detected by subsequent FISH analysis. These two cases underscore the potential benefits of each testing modality for monosomy 3. Mainly, while CMA may be more sensitive to low levels of monosomy 3, FISH may be best method for small tumors with high levels of adjacent normal ocular tissue. Our cases suggest that both testing methods should be pursued for uveal melanoma, with a single positive result for either test interpreted as indicating the presence of monosomy 3.
葡萄膜黑色素瘤是成人中最常见的原发性眼部肿瘤，可通过淋巴管转移导致发病。葡萄膜黑色素瘤中3号染色体单体的存在是转移最重要的预后指标之一。用于评估3号染色体单体的两种主要分子病理学检测方法是荧光原位杂交（FISH）和染色体微阵列分析（CMA）。在此，我们报告了两例葡萄膜黑色素瘤眼球摘除标本中3号染色体单体检测结果不一致的病例，这些病例采用了上述分子病理学检测方法。第一例是一名51岁男性的葡萄膜黑色素瘤，CMA评估时未显示3号染色体单体的证据，但随后FISH检测到了。第二例是一名49岁男性的葡萄膜黑色素瘤，CMA评估时在检测限显示3号染色体单体，但随后的FISH分析未检测到。这两个病例强调了每种检测方法对于3号染色体单体检测的潜在益处。主要是，虽然CMA可能对低水平的3号染色体单体更敏感，但FISH可能是对于含有大量相邻正常眼组织的小肿瘤的最佳检测方法。我们的病例表明，对于葡萄膜黑色素瘤应同时采用这两种检测方法，任何一种检测的单一阳性结果都可解释为表明存在3号染色体单体。
