A rare case of ALK-rearranged renal cell carcinoma misdiagnosed initially as a papillary renal cell carcinoma
- VernacularTitle:误诊为乳头状肾细胞癌的ALK重排肾细胞癌1例报告
- Author:
Xiaojing WANG
1
;
Xiaoqing CHEN
1
;
Ailing LI
1
;
Youli WU
1
;
Xiaochu YAN
1
;
Xiuwu BIAN
1
;
Guangjie DUAN
1
Author Information
- Publication Type:Journal Article
- Keywords: Carcinoma, renal cell; Anaplastic lymphoma kinase; Diagnosis
- From: Chinese Journal of Urology 2025;46(3):226-227
- CountryChina
- Language:Chinese
- Abstract: Anaplastic lymphoma kinase (ALK) rearranged renal cell carcinoma (ALK-RCC) is an exceedingly rare malignancy, recently classified as a distinct molecular entity in the 5th edition of the WHO classification for urinary and male genital tumors. Due to its non-specific clinical symptoms and diverse histopathological patterns, accurate diagnosis is difficult. This paper reports a case of ALK-RCC with morphology and immunophenotype resembling papillary renal cell carcinoma. After second-generation sequencing, EML4-ALK gene fusion was found, and positive staining for ALK was confirmed by immunohistochemistry subsequently. Following informed consent from the patient, targeted therapy with crizotinib was initiated. During a 17-month follow-up period, no recurrence or metastasis was observed.
