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Hereditary papillary renal cell carcinoma

B Zbar1, K Tory, M Merino

  • 1Program Resources Inc. (Division of Dynacorp Inc.), Frederick.

The Journal of Urology
|March 1, 1994
PubMed
Summary

This study identifies a novel inherited predisposition to papillary renal cell carcinoma (PRCC) in a three-generation family. The genetic cause is not linked to chromosome 3p, suggesting a new PRCC gene.

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Area of Science:

  • Oncology
  • Genetics
  • Nephrology

Background:

  • Papillary renal cell carcinoma (PRCC) is an uncommon histological subtype of kidney cancer.
  • Hereditary factors are implicated in a subset of renal cell carcinoma (RCC) cases.
  • Known hereditary RCC syndromes often involve specific genetic loci, frequently on chromosome 3p.

Purpose of the Study:

  • To investigate the genetic basis of an inherited predisposition to PRCC within a three-generation family.
  • To determine if the observed PRCC in this family is linked to known genetic loci associated with hereditary kidney cancer.
  • To characterize the distinct clinical and pathological features of this familial PRCC.

Main Methods:

  • Pedigree analysis was conducted across three generations of an affected family.

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  • Genetic linkage analysis was performed using polymorphic markers on chromosome 3p.
  • Analysis of loss of heterozygosity (LOH) at 3p loci was conducted on tumor samples from affected individuals.

    • Main Results:

    • Multiple bilateral renal tumors of varying sizes were observed in affected family members.
    • The familial disorder did not show linkage to polymorphic markers on chromosome 3p.
    • No loss of heterozygosity at 3p loci was detected in the renal tumors.

    Conclusions:

    • A gene predisposing to renal cell carcinoma, not located on chromosome 3p, is suggested by these findings.
    • The inherited PRCC in this family presents distinct histological features and a unique genetic basis.
    • This familial disorder appears to be a novel hereditary cancer syndrome, distinct from previously recognized ones.