Macák J, Dvorácková J, Uvírová M, Kuglík P
Department of Pathology, Faculty Hospital and Medical Faculty, Masaryk University, Brno, Czech Republic.
Cesk Patol. 2011 Jul;47(3):118-21.
The authors report a case of a 64-year-old man with chronic lymphocytic leukaemia (CLL) diagnosed 5 years ago. Recently, the patient was admitted with a tumour of the skin in the left lumbar region. Histological and immunohistochemical examinations established the diagnosis of Merkel cell carcinoma (MCC). Electron-microscopic examination revealed the formation of spherical aggregates of intermediate-sized filaments in the perinuclear region. The coincidence of MCC and CLl is rather rare and in published cases, no cytogenetic examinations were performed. We examined the RB1 gene using the interphase FISH method. A biallelic deletion in CLL tumour cells was detected; in MCC tumour cells, biallelic deletion was found in 33% of the cells and monoallelic deletion in 57% of the cells. In addition, chromosome 6 trisomy and 1p36 deletion were detected. Examination of non-neoplastic cells of the patient's skin showed a biallelic presence of the RB1 gene. According to the relevant literature, examination of the RB1 gene in CLL has informational value as a prognostic factor. The relationship between deletion of the RB1 gene and prognosis in MCC has not yet been determined and needs more research.
作者报告了一例5年前被诊断为慢性淋巴细胞白血病（CLL）的64岁男性患者。最近，该患者因左腰区皮肤肿瘤入院。组织学和免疫组化检查确诊为默克尔细胞癌（MCC）。电子显微镜检查显示在核周区域形成了中等大小细丝的球形聚集体。MCC与CLL的巧合相当罕见，在已发表的病例中，未进行细胞遗传学检查。我们使用间期荧光原位杂交（FISH）方法检测了RB1基因。在CLL肿瘤细胞中检测到双等位基因缺失；在MCC肿瘤细胞中，33%的细胞中发现双等位基因缺失，57%的细胞中发现单等位基因缺失。此外，还检测到6号染色体三体和1p36缺失。对患者皮肤的非肿瘤细胞检查显示RB1基因呈双等位基因存在。根据相关文献，检测CLL中的RB1基因作为预后因素具有信息价值。RB1基因缺失与MCC预后之间的关系尚未确定，需要更多研究。
