Familial papillary renal carcinoma: Cytogenetic characterization in normal and tumor tissues in two brothers. A case report

Michele Gallucci, Erika Vico, Steno Sentinelli, Costantino Leonardo, Paulo Visca, Giulia Orlandi, AnnaMaria Cianciulli

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Renal tumor subtypes are associated with distinct, recurring cytogenetic abnormalities and hereditary cancer syndromes. In papillary renal carcinoma, trisomy 7 and 17 and loss of the Y chromosome are the most common chromosomal defects. Case presentation: The present paper analyzes the chromosomes 7, 17, and Y alterations found in familial papillary carcinoma and in the normal tissue of two brothers. The evaluation, performed by fluorescence in situ hybridization (FISH) and cytogenetic conventional methods, was carried out on blood samples, normal kidney tissue, and tumor samples of the two brothers. Patient 1 showed gains of chromosomes 7 and 17 both in normal and tumor tissue. Chromosome Y status was normal. Patient 2 showed chromosome 7 and 17 gains, chromosome Y loss in tumor and chromosome 17 and Y alterations in normal kidney tissue. The constitutional karyotype was normal in both brothers. Conclusions: Of particular relevance were the chromosome aberrations found in normal kidney parenchyma. In fact, the progressive alterations of 7, 17, and Y chromosomes could provide evidence of early genetic instability of tissue and may even precede the development of macroscopically identifiable lesions.

Original languageEnglish
Pages (from-to)295-298
Number of pages4
JournalUrologic Oncology: Seminars and Original Investigations
Volume26
Issue number3
DOIs
Publication statusPublished - May 2008

Keywords

  • Cytogenetics
  • Papillary renal carcinoma

ASJC Scopus subject areas

  • Oncology
  • Urology

Fingerprint Dive into the research topics of 'Familial papillary renal carcinoma: Cytogenetic characterization in normal and tumor tissues in two brothers. A case report'. Together they form a unique fingerprint.

Cite this