Characteristics of Renal Cell Carcinoma Harboring TPM3-ALK Fusion
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The World Health Organization 2016 edition assigned anaplastic lymphoma kinase (ALK) rearrangement-associated renal cellcarcinoma (ALK-RCC) as an emerging renal tumor entity. Identifying ALK-RCC is important because ALK inhibitors have beenshown to be effective in treatment. Here, we report the case of a 14-year-old young man with ALK-RCC. Computed tomographyrevealed a well-demarcated 5.3-cm enhancing mass at the upper pole of the left kidney. There was no further history or symptomsof the sickle-cell trait. The patient underwent left radical nephrectomy. Pathologically, the mass was diagnosed as an unclassifiedRCC. Targeted next-generation sequencing identified a TPM3-ALK fusion gene. The present report and literature review demonstratethat TPM3-ALK RCC may be associated with distinct clinicopathological features. Microscopically, the tumors showed diffusegrowth and tubulocystic changes with inflammatory cell infiltration. Tumor cells were dis-cohesive and epithelioid with abundanteosinophilic cytoplasm and cytoplasmic vacuoles. If morphological features and TFE3 expression are present in adolescentand young patients, molecular tests for ALK translocation should be performed. This awareness is critically important, because ALKrearrangement confers sensitivity to ALK inhibitors.
Abstract
The World Health Organization 2016 edition assigned anaplastic lymphoma kinase (ALK) rearrangement-associated renal cellcarcinoma (ALK-RCC) as an emerging renal tumor entity. Identifying ALK-RCC is important because ALK inhibitors have beenshown to be effective in treatment. Here, we report the case of a 14-year-old young man with ALK-RCC. Computed tomographyrevealed a well-demarcated 5.3-cm enhancing mass at the upper pole of the left kidney. There was no further history or symptomsof the sickle-cell trait. The patient underwent left radical nephrectomy. Pathologically, the mass was diagnosed as an unclassifiedRCC. Targeted next-generation sequencing identified a TPM3-ALK fusion gene. The present report and literature review demonstratethat TPM3-ALK RCC may be associated with distinct clinicopathological features. Microscopically, the tumors showed diffusegrowth and tubulocystic changes with inflammatory cell infiltration. Tumor cells were dis-cohesive and epithelioid with abundanteosinophilic cytoplasm and cytoplasmic vacuoles. If morphological features and TFE3 expression are present in adolescentand young patients, molecular tests for ALK translocation should be performed. This awareness is critically important, because ALKrearrangement confers sensitivity to ALK inhibitors.
참고문헌 (15)
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