Department of Pathology, Virgen Macarena University Hospital, Seville, Spain.
Clin Exp Dermatol. 2012 Dec;37(8):838-43. doi: 10.1111/j.1365-2230.2012.04416.x. Epub 2012 Jun 25.
Accurate histopathological diagnosis of certain melanocytic skin lesions as benign or malignant can be notoriously difficult. Recently, four-colour fluorescence in situ hybridization (FISH) has emerged as an important tool for classifying these lesions.
To evaluate the sensitivity and specificity of a melanoma FISH probe kit for accurate diagnosis of melanocytic tumours, and to validate its use with imprint-cytology specimens from the cut surface of tumours.
In total, 50 melanocytic skin lesions (31 malignant melanomas, 10 benign melanocytic naevi, and 9 histologically challenging benign melanocytic skin lesions) were evaluated. The samples comprise 47 tissue specimens embedded in paraffin wax, and three imprint-cytology specimens from the cut surface of melanomas. FISH was performed using four locus-specific identifier probes [Ras responsive element binding protein (RREB)1, myeloblastosis viral oncogene homologue (MYB), cyclin (CCN)D1 and centromere of chromosome (CEP)6], and results were compared with the clinical long-term follow-up and histopathological diagnosis data.
The melanoma FISH probe distinguished between naevi and melanomas with a sensitivity of 100% and a specificity of 94.1%. The most sensitive criterion was a gain in 6p25 (RREB1), seen in 100% of cases, followed by CEP6-related MYB loss (48.1%), CCND1 gain (37%) and MYB gain (22.2%). More than three-quarters (77.8%) of melanomas were positive for two or more criteria. Positive FISH results were also obtained for the imprint-cytology specimens.
FISH is a valuable diagnostic tool for differentiating between benign and malignant melanocytic lesions, providing a high degree of sensitivity and specificity. The probes displayed exceptional discriminative capacity in difficult or ambiguous lesions. To our knowledge, his is the first reported use of imprint-cytology specimens for FISH diagnosis.
准确的组织病理学诊断某些黑素细胞皮肤病变的良恶性可能非常困难。最近，四色荧光原位杂交（FISH）已成为分类这些病变的重要工具。
评估黑色素瘤 FISH 探针试剂盒在准确诊断黑素细胞瘤中的灵敏度和特异性，并验证其在肿瘤切面印片细胞学标本中的应用。
共评估了 50 例黑素细胞皮肤病变（31 例恶性黑色素瘤、10 例良性黑素细胞痣和 9 例组织学挑战性良性黑素细胞皮肤病变）。样本包括 47 例石蜡包埋组织标本和 3 例黑色素瘤切面印片细胞学标本。使用四个局灶性识别探针 [Ras 反应元件结合蛋白 1（RREB1）、髓样白血病病毒癌基因同系物（MYB）、周期蛋白（CCND1）和染色体 6 着丝粒（CEP6）] 进行 FISH，结果与临床长期随访和组织病理学诊断数据进行比较。
黑色素瘤 FISH 探针能够区分痣和黑色素瘤，灵敏度为 100%，特异性为 94.1%。最敏感的标准是 6p25（RREB1）的获得，在 100%的病例中可见，其次是 CEP6 相关 MYB 缺失（48.1%）、CCND1 获得（37%）和 MYB 获得（22.2%）。超过四分之三（77.8%）的黑色素瘤有两个或更多标准阳性。印片细胞学标本也获得了 FISH 阳性结果。
FISH 是区分良性和恶性黑素细胞病变的有价值的诊断工具，具有高度的灵敏度和特异性。探针在困难或模棱两可的病变中显示出出色的鉴别能力。据我们所知，这是首次报道使用印片细胞学标本进行 FISH 诊断。
