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


METHODS
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.
Gallucci
Michele
M
Department of Urology, Regina Elena Cancer Institute, Rome, Italy.
Vico
Erika
E
Sentinelli
Steno
S
Leonardo
Costantino
C
Visca
Paulo
P
Orlandi
Giulia
G
Cianciulli
AnnaMaria
A
D000328:Adult; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology*; D002877:Chromosomes, Human / Q000235:genetics; D003582:Cytogenetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006262:Health; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D008297:Male; D035781:Siblings