Mutations in the von Hippel-Lindau (VHL) gene refine differential diagnostic criteria in renal cell carcinoma

Nandita Barnabas, Mitual B. Amin, Kirit Pindolia, Reshma Nanavati, Mahul Amin, Maria J. Worsham

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Background and Objectives: Renal cell carcinomas (RCC) with abundant granular cytoplasm include oncocytomas, eosinophillic variants of chromophobe RCC, papillary RCC, collecting duct carcinoma, and some conventional (clear cell) RCC. Tumors with predominantly clear cell cytoplasm include typical chromophobe RCC and conventional (clear cell) RCC. The objective of this study was to determine if mutations in the VHL gene can serve as auxiliary diagnostic criteria in refining histology based subtyping of renal epithelial neoplasia. Methods: The study cohort of 67 cases included 24 conventional RCC, 14 chromophobe RCC, 14 papillary RCC, and 15 oncocytomas. Single strand conformational polymorphism (SSCP) was used as a screening procedure for mutations followed by automated sequencing to identify mutations. Results: Thirteen of the 14 mutations identified were novel, seven of which were in the coding region. In chromophobe RCC, mutations clustered in the 5′UTR/promoter region and have not been previously reported. Exon 3 appeared to favor conventional (clear cell) RCC and correlated with a more aggressive phenotype. Mutations were absent in the papillary and oncocytoma RCC subtypes. Conclusions: Exon 3 mutations permitted a morphological distinction between conventional (clear cell) RCC and chromophobe RCC with clear cells. Mutations in the VHL gene refine histologic diagnostic criteria in RCC serving as adjuncts to the present morphology based diagnosis of RCC.

Original languageEnglish (US)
Pages (from-to)52-60
Number of pages9
JournalJournal of Surgical Oncology
Volume80
Issue number1
DOIs
StatePublished - May 18 2002
Externally publishedYes

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Renal Cell Carcinoma
Mutation
Genes
Oxyphilic Adenoma
Exons
Cytoplasm
Genetic Promoter Regions
Neoplasms

All Science Journal Classification (ASJC) codes

  • Surgery
  • Oncology

Cite this

Mutations in the von Hippel-Lindau (VHL) gene refine differential diagnostic criteria in renal cell carcinoma. / Barnabas, Nandita; Amin, Mitual B.; Pindolia, Kirit; Nanavati, Reshma; Amin, Mahul; Worsham, Maria J.

In: Journal of Surgical Oncology, Vol. 80, No. 1, 18.05.2002, p. 52-60.

Research output: Contribution to journalArticle

Barnabas, Nandita ; Amin, Mitual B. ; Pindolia, Kirit ; Nanavati, Reshma ; Amin, Mahul ; Worsham, Maria J. / Mutations in the von Hippel-Lindau (VHL) gene refine differential diagnostic criteria in renal cell carcinoma. In: Journal of Surgical Oncology. 2002 ; Vol. 80, No. 1. pp. 52-60.
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AU - Amin, Mahul

AU - Worsham, Maria J.

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