High incidence of chromosome 1 abnormalities in a series of 27 renal oncocytomas: cytogenetic and fluorescence in situ hybridization studies

Arch Pathol Lab Med. 2007 Jan;131(1):81-5. doi: 10.5858/2007-131-81-HIOCAI.


Context: It has recently been shown by cytogenetics that there is a high incidence of chromosome 1 abnormalities in renal oncocytomas.

Objective: To confirm the cytogenetic results by fluorescence in situ hybridization (FISH) analysis.

Design: Nine additional cytogenetic analyses were added to those reported in our recent study, with a total of 27 tumors studied, which makes it the largest series of renal oncocytomas studied to date by cytogenetics and/or FISH. We used the LSI 1p36/LSI 1q25 Dual Color Probe Set to make the analyses.

Results: In this study, combined cytogenetics and FISH showed loss of chromosome arm 1p1 in 48% of renal oncocytomas. By FISH, deletion of 1p36.3 was observed in 59% of renal oncocytomas, whereas by cytogenetics, abnormality in chromosome 1 was seen in 32% of tumors. However, the incidence of chromosome 1 abnormalities among 9 bilateral tumors was much higher than in single tumors (88% vs 28%, respectively). Loss of only the 1p36.3 site occurred in 2 renal oncocytomas with translocation of chromosome 1, as shown by cytogenetics. Concordance between the 2 techniques, when they were used simultaneously to detect chromosome 1p1 abnormality, was 82%.

Conclusions: This study further confirmed our prior results demonstrating the widespread occurrence of chromosome 1 abnormalities in renal oncocytomas. Although no abnormalities in chromosome 1 in tumors with normal karyotypes were detected by FISH using the current set of probes, a much higher incidence of such abnormalities was found in bilateral tumors, suggesting that genetic alterations related to the development of renal oncocytoma reside in this region.

MeSH terms

  • Adenoma, Oxyphilic / etiology
  • Adenoma, Oxyphilic / genetics*
  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 1 / genetics*
  • Cytogenetic Analysis
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Incidence
  • Karyotyping
  • Kidney Neoplasms / etiology
  • Kidney Neoplasms / genetics*
  • Male
  • Middle Aged