ABSTRACT
PURPOSE: To confirm our previously obtained results, we genetically characterized prostate cancer from patients undergo radical prostatectomy in a retrospective study. MATERIALS AND METHODS: Histological sections were evaluated for 106 patients treated with surgery from 1991 to 2004. With fluorescence in situ hybridization (FISH) method, the status of LPL (8p22), c-MYC (8q24) genes and 7, 8, X chromosomes was evaluated. RESULTS: Chromosomes 7, 8, X aneusomy was demonstrated in 91.5%, 78.3%, and 51.9% of the samples, respectively, whereas LPL deletion and MYC amplification were found in 76.0% and 1.6%. A genetic profile was considered as unfavorable when at least two aneusomic chromosomes and one altered gene were present. Tumors with an adverse genetic profile were more frequently present in patients with higher stages (P = 0.02), biochemical/clinical progression (P = 0.03), and Gleason grade 4 + 3 (P = 0.02). Multiple correspondence analysis identified one tumor group characterized by chromosome 8 aneusomy, X polysomy, LPL gene deletion, Gleason > 7 and 4 + 3 associated with progression. CONCLUSIONS: In this study, we recognized the predictive power of previously identified cytogenetic profiles. Assessment of genetic set may characterize each patient and have influence on postoperative therapeutic strategies.
Subject(s)
Biomarkers, Tumor/genetics , Prostatic Neoplasms/genetics , Prostatic Neoplasms/pathology , Chromosome Aberrations , Chromosomes, Human, Pair 8/genetics , Chromosomes, Human, X/genetics , Disease Progression , Gene Dosage , Humans , In Situ Hybridization, Fluorescence , Lipoprotein Lipase/genetics , Male , Neoplasm Staging , Prognosis , Prostate-Specific Antigen/blood , Proto-Oncogene Proteins c-myc/genetics , Retrospective StudiesABSTRACT
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.
Subject(s)
Carcinoma, Papillary/genetics , Carcinoma, Papillary/pathology , Genetic Predisposition to Disease/genetics , Health , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Siblings , Adult , Chromosomes, Human/genetics , Cytogenetics , Humans , In Situ Hybridization, Fluorescence , MaleABSTRACT
Fluorescence in situ hybridization analysis was performed to evaluate P16 (9p21), P53 (17p13.1), RB1 (13q14), HER2 (17q11.2) genes and chromosomes 3, 7, 9 and 17 in 62 bladder cancer cystectomies. We found chromosome aneusomy ranged between 74.2% and 91.9%. The highest percentage of homozygous deletion was found in the P16 gene (48.4%), while the highest percentage of heterozygous deletion was in the RB1 gene (51.6%). Chromosome 17 aneusomy significantly increased in tumors with higher stage, and RB heterozygous deletion showed a higher percentage of tumors with positive lymph node. Multiple correspondence analysis (MCA) showed four different biological tumor profiles, but only one could be associated with survival, defining the most unfavorable biological profile, characterized by P53 and P16 as homozygous and heterozygous and RB as homozygous deletion. Overall survival was significantly shorter in patients with at least two positive variables out of the five detected by MCA using the Kaplan-Meier's method. The biological stratification of advanced bladder cancer patients is of particular clinical interest, because the assessment of genetic factors predictive of tumor aggressiveness may influence postoperative therapeutic strategies.
