Guo Ruifeng, Wang Xianfu, Chen Jie, Gillies Ellizabeth, Fung Kar-Ming, Li Shibo, Hassell Lewis A
Department of Pathology, University of Oklahoma Health Sciences Center Oklahoma city, OK, USA.
Department of Pediatrics, Genetics Laboratory, University of Oklahoma Health Sciences Center Oklahoma city, OK, USA.
Int J Clin Exp Pathol. 2013 Dec 15;7(1):468-73. eCollection 2014.
We recently reported three cases of metastatic melanoma that does not express S100, HMB45, Melan A and Tyrosinase. A concurrent cutaneous scalp primary melanoma was identified later in one of the cases, which showed strong expression of these markers. The difference in immunophenotype between the primary melanoma and its metastasis in the parotid gland in this case raised the question of the biological significance of the expression of these markers and metastatic potential. To address this question, we utilized microarray comparative genomic hybridization (aCGH) to compare the cytogenetic features between the primary and metastatic melanoma. We observed chromosomal gains including 6p, entire chromosome 7, and 8q11.1-q24.3 in both primary and metastatic tumors. However, the metastatic lesion showed unique additional copy of chromosomal 7q, and loss of chromosome 9p24.3-q13 and chromosome 4, which included Melan A encoding gene region in 9p24.1. The above findings suggest the unique cytogenetic changes in the parotid lesion are most likely related to the metastatic behavior, as well as responsible for loss of multiple melanocytic marker expression in the metastatic melanoma for this case.
我们最近报告了3例不表达S100、HMB45、Melan A和酪氨酸酶的转移性黑色素瘤病例。其中1例后来发现同时存在头皮原发性皮肤黑色素瘤，该原发性黑色素瘤显示这些标志物呈强表达。在该病例中，原发性黑色素瘤与其腮腺转移瘤之间免疫表型的差异，引发了这些标志物表达的生物学意义及转移潜能问题。为解决这一问题，我们利用微阵列比较基因组杂交（aCGH）来比较原发性和转移性黑色素瘤的细胞遗传学特征。我们在原发性和转移性肿瘤中均观察到染色体增加，包括6p、整条7号染色体以及8q11.1 - q24.3。然而，转移灶显示7号染色体q臂有独特的额外拷贝，以及9p24.3 - q13和4号染色体缺失，其中9p24.1包含Melan A编码基因区域。上述发现表明，腮腺病灶中独特的细胞遗传学改变很可能与转移行为有关，也是该病例转移性黑色素瘤中多种黑素细胞标志物表达缺失的原因。
