ALK-TPM3 rearrangement in adult renal cell carcinoma: a case report and literature review

Diagn Pathol. 2019 Oct 18;14(1):112. doi: 10.1186/s13000-019-0879-0.

Abstract

Background: Translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) is a rare subtype of adult renal cell carcinoma (RCC) reported in recent years. It was recognized as a group of emerging /provisional RCC in the latest World Health Organization's classification (2016).

Case presentation: A new Chinese case of ALK-tRCC was reported. The patient was a 58-year-old man with a tumor in kidney. The tumor was composed of sheets of large cells with abundant eosinophilic cytoplasm and indistinct cell borders but conspicuous intracytoplasmic vacuoles. The nuclei were enlarged with a nucleolar of grade 4. Immunohistochemically, tumor cells were diffusely positive for PAX8, keratin (AE1/AE3), epithelial membrane antigen (EMA) and CK7. Fluorescent in situ hybridization (FISH) showed a rearrangement of ALK in tumor cells.

Conclusion: ALK-tRCC is a rare subtype of adult RCC. Its diagnosis is very difficult because the histological spectrum is very wide. We suggested that RCCs should be screened for ALK expression by immunohistochemistry (IHC) for the patient might benefit from ALK inhibitors therapy.

Keywords: Anaplastic lymphoma kinase; Cytogenetics; Next generation sequencing; Renal cell carcinoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anaplastic Lymphoma Kinase / genetics
  • Carcinoma, Renal Cell / diagnosis
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / pathology*
  • Humans
  • Immunohistochemistry / methods
  • Kidney / pathology
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Male
  • Middle Aged
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Tropomyosin / genetics*

Substances

  • TPM3 protein, human
  • Tropomyosin
  • Anaplastic Lymphoma Kinase
  • Receptor Protein-Tyrosine Kinases