Low-grade oncocytic tumour (LOT) of the kidney is characterised by GATA3 positivity, FOXI1 negativity and mTOR pathway mutations

Pathol Oncol Res. 2023 Feb 1:29:1610852. doi: 10.3389/pore.2023.1610852. eCollection 2023.

Abstract

Aims: We present a 5-case series of low-grade oncocytic tumour of the kidney to further discuss their clinicopathological characteristics. Methods and results: Five patients were included in this study. There were three females and two males aged 45-66 years, with a median age of 65 years. Four tumours were located in the right kidney, and one was located in the left kidney. Most of the tumour sections were yellow-brown in colour. Tumour sizes ranged from 2.5 to 4.5 cm, with a median size of 3 cm. Microscopically, the tumours were well-circumscribed but lacked a fibrous capsule; the tumours consisted of monomorphous oncocytic cells arranged mainly in solid and nested architectural patterns. The tumour cells had uniformly round to oval nuclei and often had perinuclear halos but lacked significant irregularities. Immunohistochemically, the tumour cells showed a diffuse and strong positivity for CK7 and were negative for CD117. The tumour cells were also positive for GATA3, E-cadherin, Pax-8, Succinate dehydrogenase B (SDHB) and Fumarate hydratase (FH), and negative for vimentin, Carbonic anhydrase 9 (CA9), CD10, P504s, CK20, TFE3, TFEB, HMB45, ALK and Forkhead box protein I1 (FOXI1). Next-generation sequencing identified genetic variations in these tumours, including MTOR gene mutations (4/5) and PIK3CA gene mutation (1/5). All patients were alive without disease progression at a median follow-up of 32 months (range 10-57 months). Conclusion: LOT is an emerging renal entity of indolent behaviour that has morphologic overlap with some renal tumours with eosinophilic cytoplasm, primarily with oncocytoma and eosinophilic variant of chromophobe renal cell carcinoma. Familiarity with the distinctive morphological features, immunophenotype and molecular genetics of LOT helps avoid misdiagnosis.

Keywords: clinicopathological characteristics; differential diagnosis; immunohistochemistry; low-grade oncocytic tumour (LOT) of the kidney; mTOR.

MeSH terms

  • Aged
  • Biomarkers, Tumor / genetics
  • Carcinoma, Renal Cell* / pathology
  • Female
  • Forkhead Transcription Factors
  • GATA3 Transcription Factor / genetics
  • Humans
  • Immunohistochemistry
  • Kidney / metabolism
  • Kidney Neoplasms* / pathology
  • Male
  • Middle Aged
  • Mutation
  • TOR Serine-Threonine Kinases

Substances

  • Biomarkers, Tumor
  • Forkhead Transcription Factors
  • FOXI1 protein, human
  • GATA3 protein, human
  • GATA3 Transcription Factor
  • MTOR protein, human
  • TOR Serine-Threonine Kinases