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一大系列连续切除的韩国肾细胞癌患者中的ALK阳性肾细胞癌

ALK-Positive Renal Cell Carcinoma in a Large Series of Consecutively Resected Korean Renal Cell Carcinoma Patients.

作者信息

Lee Cheol, Park Jeong Whan, Suh Ja Hee, Nam Kyung Han, Moon Kyung Chul

机构信息

Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Korean J Pathol. 2013 Oct;47(5):452-7. doi: 10.4132/KoreanJPathol.2013.47.5.452. Epub 2013 Oct 25.

Abstract

BACKGROUND

Recently, there have been a few reports of renal cell carcinoma (RCC) cases with anaplastic lymphoma kinase (ALK) gene fusion. In this study, we screened consecutively resected RCCs from a single institution for ALK protein expression by immunohistochemistry, and then we performed fluorescence in situ hybridization to confirm the ALK gene alteration in ALK immunohistochemistry-positive cases.

METHODS

We screened 829 RCCs by ALK immunohistochemistry, and performed fluorescence in situ hybridization analysis using ALK dual-color break-apart rearrangement probe. Histological review and additional immunohistochemistry analyses were done in positive cases.

RESULTS

One ALK-positive case was found. Initial diagnosis of this case was papillary RCC type 2. This comprises 0.12% of all RCCs (1/829) and 1.9% of papillary RCCs (1/53). This patient was a 44-year-old male with RCC found during routine health check-up. He was alive without evidence of disease 12 years after surgery. The tumor showed a papillary and tubular pattern, and showed positivity for CD10 (focal), epithelial membrane antigen, cytokeratin 7, pan-cytokeratin, PAX-2, and vimentin.

CONCLUSIONS

We found the first RCC case with ALK gene rearrangement in Korean patients by ALK immunohistochemistry among 829 RCCs. This case showed similar histological and immunohistochemical features to those of previous adult cases with ALK rearrangement, and showed relatively good prognosis.

摘要

背景

最近,有几篇关于肾细胞癌(RCC)病例出现间变性淋巴瘤激酶(ALK)基因融合的报道。在本研究中,我们通过免疫组织化学对来自单一机构的连续切除的RCC进行ALK蛋白表达筛选,然后对ALK免疫组织化学阳性病例进行荧光原位杂交以确认ALK基因改变。

方法

我们通过ALK免疫组织化学筛选了829例RCC,并使用ALK双色断裂分离重排探针进行荧光原位杂交分析。对阳性病例进行组织学复查和额外的免疫组织化学分析。

结果

发现1例ALK阳性病例。该病例的初始诊断为2型乳头状RCC。这占所有RCC的0.12%(1/829)和乳头状RCC的1.9%(1/53)。该患者为44岁男性,在常规健康检查中发现患有RCC。术后12年他仍存活,无疾病证据。肿瘤呈乳头状和管状结构,CD10(局灶性)、上皮膜抗原、细胞角蛋白7、全细胞角蛋白、PAX-2和波形蛋白呈阳性。

结论

我们通过ALK免疫组织化学在829例RCC中发现了韩国患者中首例ALK基因重排的RCC病例。该病例在组织学和免疫组织化学特征上与先前有ALK重排的成人病例相似,且预后相对较好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bec/3830992/111155fb06fc/kjpathol-47-452-g001.jpg

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