Yonsei Med J.  2020 Mar;61(3):262-266. 10.3349/ymj.2020.61.3.262.

Characteristics of Renal Cell Carcinoma Harboring TPM3-ALK Fusion

Affiliations
  • 1Department of Pathology, Chungbuk National University Hospital, Cheongju, Korea. md5218@naver.com
  • 2Department of Pathology, Chungbuk National University College of Medicine, Cheongju, Korea.
  • 3Department of Urology, Chungbuk National University Hospital, Cheongju, Korea.
  • 4Department of Urology, Chungbuk National University College of Medicine, Cheongju, Korea.

Abstract

The World Health Organization 2016 edition assigned anaplastic lymphoma kinase (ALK) rearrangement-associated renal cell carcinoma (ALK-RCC) as an emerging renal tumor entity. Identifying ALK-RCC is important because ALK inhibitors have been shown to be effective in treatment. Here, we report the case of a 14-year-old young man with ALK-RCC. Computed tomography revealed a well-demarcated 5.3-cm enhancing mass at the upper pole of the left kidney. There was no further history or symptoms of the sickle-cell trait. The patient underwent left radical nephrectomy. Pathologically, the mass was diagnosed as an unclassified RCC. Targeted next-generation sequencing identified a TPM3-ALK fusion gene. The present report and literature review demonstrate that TPM3-ALK RCC may be associated with distinct clinicopathological features. Microscopically, the tumors showed diffuse growth and tubulocystic changes with inflammatory cell infiltration. Tumor cells were dis-cohesive and epithelioid with abundant eosinophilic cytoplasm and cytoplasmic vacuoles. If morphological features and TFE3 expression are present in adolescent and young patients, molecular tests for ALK translocation should be performed. This awareness is critically important, because ALK rearrangement confers sensitivity to ALK inhibitors.

Keyword

Anaplastic lymphoma kinase; TPM3 protein; gene rearrangement; renal cell carcinoma; ALK inhibitors

MeSH Terms

Adolescent
Carcinoma, Renal Cell*
Cytoplasm
Eosinophils
Gene Rearrangement
Humans
Kidney
Lymphoma
Nephrectomy
Phosphotransferases
Vacuoles
World Health Organization
Phosphotransferases
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