PMID- 18452823 OWN - NLM STAT- MEDLINE DCOM- 20080905 LR - 20080502 IS - 1078-1439 (Print) IS - 1078-1439 (Linking) VI - 26 IP - 3 DP - 2008 May-Jun TI - Familial papillary renal carcinoma: cytogenetic characterization in normal and tumor tissues in two brothers. A case report. PG - 295-8 LID - 10.1016/j.urolonc.2007.01.025 [doi] AB - 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. FAU - Gallucci, Michele AU - Gallucci M AD - Department of Urology, Regina Elena Cancer Institute, Rome, Italy. FAU - Vico, Erika AU - Vico E FAU - Sentinelli, Steno AU - Sentinelli S FAU - Leonardo, Costantino AU - Leonardo C FAU - Visca, Paulo AU - Visca P FAU - Orlandi, Giulia AU - Orlandi G FAU - Cianciulli, AnnaMaria AU - Cianciulli A LA - eng PT - Case Reports PT - Journal Article DEP - 20080220 PL - United States TA - Urol Oncol JT - Urologic oncology JID - 9805460 SB - IM MH - Adult MH - Carcinoma, Papillary/*genetics/*pathology MH - Chromosomes, Human/genetics MH - Cytogenetics MH - Genetic Predisposition to Disease/*genetics MH - *Health MH - Humans MH - In Situ Hybridization, Fluorescence MH - Kidney Neoplasms/*genetics/*pathology MH - Male MH - *Siblings EDAT- 2008/05/03 09:00 MHDA- 2008/09/06 09:00 CRDT- 2008/05/03 09:00 PHST- 2007/01/31 00:00 [received] PHST- 2007/01/31 00:00 [accepted] PHST- 2008/05/03 09:00 [pubmed] PHST- 2008/09/06 09:00 [medline] PHST- 2008/05/03 09:00 [entrez] AID - S1078-1439(07)00028-2 [pii] AID - 10.1016/j.urolonc.2007.01.025 [doi] PST - ppublish SO - Urol Oncol. 2008 May-Jun;26(3):295-8. doi: 10.1016/j.urolonc.2007.01.025. Epub 2008 Feb 20.