PubMed Health⌕ Search

Biomedical subjects

D L Persons

Publications and source records attributed to D L Persons.

29 records · Page 2Linked to original sources

Chromosomal aneusomies detected by fluorescent in situ hybridization analysis in clinically localized prostate carcinoma.

Fluorescent in situ hybridization using 12 chromosome enumeration probes (for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 17, 18, X and Y) was used to evaluate fresh tumor touch preparations from 40 randomly selected radical prostatectomy specimens. Of the tumors 16 (40%) contained chromosomal aneusomies. Chromosome 8 was aneusomic in 9 tumors (23%). Gain of chromosome 7 was observed in 8 tumors (20%). Chromosome 17 was aneusomic in 4 cases, and chromosomes 10, 11, 12, 18 and Y were each aneusomic twice. Loss of chromosome 9 was observed in 1 tumor. Chromosomes 4, 6, and X were never aneusomic. The percentage of monosomy 17 nuclei was 2 to 4 times the amount noted with the other autosomes for tumor and benign tissue. Computer analysis demonstrated that these signals contained twice the signal density and were significantly different (p < 0.0001) than the single diploid chromosome 17 signals. This result is consistent with homologous pairing of chromosome 17 in benign and neoplastic prostate tissue. Anomalies of chromosomes 8 and/or 7 were present in 14 of the 16 cases (88%) aneusomic by fluorescent in situ hybridization. High grade tumors were more likely to be aneuploid on fluorescent in situ hybridization (p < 0.001). Tumors with chromosome 8 aneusomies were of higher stage (p < 0.05). Fluorescent in situ hybridization is more sensitive than flow cytometry for the detection of aneusomy/aneuploidy. The prognostic relevance of these findings will require further investigation.

Aneuploidy↗

Fluorescence in situ hybridization analysis of trisomy 12 in ovarian tumors.

Conventional cytogenetic studies have suggested that trisomy 12 may be a characteristic nonrandom numerical chromosome anomaly in benign ovarian tumors, particularly sex cord-stromal tumors. To confirm this finding, and to avoid possible culture artifact introduced during cytogenetic analysis, the authors performed fluorescence in situ hybridization (FISH) in paraffin-embedded samples of select ovarian neoplasms. Forty-four ovarian fibromas and granulosa cell tumors and 31 benign and borderline epithelial ovarian tumors were examined for the presence of trisomy 12. Trisomy 12 was detected in 40% (8 of 20) of the fibromas. No evidence of trisomy 12 was present in 24 granulosa cell tumors, although 1 granulosa cell tumor was tetrasomic for chromosome 12. Trisomy 12 was found in 27% (3 of 11) of the serous borderline tumors, but was not observed in any of the benign epithelial tumors (13 serous and 7 mucinous cystadenomas). These results confirm that trisomy 12 occurs in a significant proportion of fibromas. However, the incidence of trisomy 12 in granulosa cell tumors is far lower than suggested by previous studies. These results, in conjunction with those of previous cytogenetic reports, suggest that trisomy 12 is rare in benign epithelial ovarian tumors, but occurs fairly commonly as a sole anomaly in borderline epithelial tumors. Further investigation is necessary to establish the significance of trisomy 12 in the pathogenesis of these tumors.

Chromosomes, Human, Pair 12↗

Use of fluorescent in situ hybridization for deoxyribonucleic acid ploidy analysis of prostatic adenocarcinoma.

Fluorescent in situ hybridization using 2 chromosome specific centromere probes was evaluated as a method of ploidy analysis in touch preparations from 50 radical prostatectomy specimens. Tumors were classified as aneuploid by fluorescent in situ hybridization when nuclei had an abnormal copy number (aneusomic) for either chromosome centromere 8 or 12. Tetraploid tumors were defined as those with 4 copies (tetrasomic) of chromosome centromeres 8 and 12. The fluorescent in situ hybridization ploidy patterns were compared to the deoxyribonucleic acid (DNA) ploidy patterns subsequently obtained by flow cytometry on the same tissue following paraffin embedding. Concordant fluorescent in situ hybridization and flow cytometry ploidy classification was obtained in 82% of the cases (p < or = 0.0001). Of 7 aneuploid tumors 3 were identified by both methods. Trisomy 8 was detected by fluorescent in situ hybridization in 3 cases that were classified as DNA diploid (2 tumors) and DNA tetraploid (1 tumor). Conversely, flow cytometry detected aneuploidy (hypotetraploidy) in 1 tumor when the fluorescent in situ hybridization results were consistent with tetraploidy. Overall, fluorescent in situ hybridization was more sensitive in aneuploidy detection (6 of 7 cases) than flow cytometry (4 of 7). Of 19 tetraploid cases 5 had discordant fluorescent in situ hybridization and flow cytometry results. However, all 5 cases contained low levels of tetraploidy and the discrepant results were most likely due to the limits of precision of 1 or both methods. In conclusion, we demonstrated that fluorescent in situ hybridization ploidy analysis can be rapidly performed on fresh touch preparations of prostate tissue. This preliminary study demonstrates that the ploidy result determined by fluorescent in situ hybridization correlates well with that obtained by flow cytometry. More complete fluorescent in situ hybridization studies of prostate carcinoma will require additional probes for other chromosomes.

Adenocarcinoma↗

Interphase molecular cytogenetic analysis of epithelial ovarian carcinomas.

Karyotype information on ovarian carcinomas has been limited because the tumors are often difficult to culture and the resultant metaphases can have complex numerical and structural chromosomal anomalies. Fluorescent in situ hybridization is a rapid method of determining centromere copy number in metaphase cells and interphase nuclei. Fluorescent in situ hybridization was used to determine the numerical centromere complement of chromosomes X, 8, 12, and 17 and HER-2/neu gene amplification within interphase nuclei of 25 primary epithelial ovarian carcinomas. Touch preparations of the carcinomas were hybridized with two-color combinations of directly labeled alpha-satellite centromeric chromosome enumeration probes and a directly labeled HER-2/neu probe. Modal centromere copy numbers for each of the four chromosomes were used to determine numerical abnormalities relative to the flow cytometric DNA ploidy level for each tumor. Four cases were found to be normal with respect to the four chromosomes studied. In the remaining 21 cases a relative loss of chromosomes 17 (16 cases) and X (nine cases) and a relative gain of chromosomes 12 (10 cases) and 8 (nine cases) were the most common findings. In addition, the HER-2/neu gene was amplified in two of the 25 tumors. In conclusion, fluorescent in situ hybridization is an excellent method for rapid determination of numerical abnormalities and gene amplification in ovarian carcinomas.

Biomarkers, Tumor↗

Clonal karyotypic aberrations in enchondromas.

Enchondromas, benign cartilaginous tumors arising within the medullary cavity of bone, are frequently difficult to differentiate from their malignant counterpart. In this study, cytogenetic analysis was performed on seven cases of solitary enchondroma. Normal karyotypes were observed in five cases. Clonal abnormalities were detected in two cases. An isochromosome of the short arm of chromosome 6 characterized one case, and t(12;15)(q13;q26) in addition to random numerical and structural abnormalities such as telomeric association was observed in the other case. An i(6p) and structural rearrangements involving 12q13 previously have been described in chondrosarcoma. Our findings suggest that similar clonal karyotypic abnormalities exist in benign and malignant cartilaginous neoplasms.

Adolescent↗

Cytogenetic analysis of two sacral chordomas.

Cytogenetic analysis of two sacral chordomas revealed two distinct abnormal clones in one of the cases: 44,XY,t(1;3)(q42;q11), -2,der(7)t(2;7)(q23;q32), -21 and 46,X,t(Y;8)(q12;q22), t(1;14)(p34;q32),t(5;10)(q13;p11). All cells analyzed from the second case were cytogenetically normal. To the best of our knowledge, chordomas have not previously been subjected to cytogenetic analysis.

Aged↗

Comparison of polymerase chain reaction, DNA hybridization, and histology with viral culture to detect cytomegalovirus in immunosuppressed patients.

Formalin-fixed, paraffin-embedded lung tissue from 34 autopsies and eight open-lung biopsies of bone marrow transplant recipients was analyzed for cytomegalovirus (CMV) infection. The cases were studied by the polymerase chain reaction (PCR), in situ DNA hybridization, and histologic examination. The results were compared with viral culture for CMV taken at the time of biopsy or autopsy. In the autopsy series, hybridization and histology identified CMV in 15% of the cases, whereas PCR detected CMV in 24% of the cases. In the open-lung biopsy cases, both PCR and hybridization were found to be equivalent to culture in detecting CMV. Histology was less sensitive, with the molecular biology methods detecting CMV in 50% of the lung biopsies while histologic examination identified only 25%. Specificity was high (100%) since CMV was not detected in any culture-negative case by either PCR or hybridization. However, PCR, hybridization, and histology failed to identify CMV in three known culture-positive autopsy cases. Overall, PCR and hybridization were found to be more sensitive than histology, and PCR was more sensitive than hybridization for the detection of CMV. The advantage of high sensitivity and specificity combined with more rapid diagnosis (24 to 48 h) compared with viral culture (average, 16 days in this study) makes the molecular biology methods useful adjuncts to histology for detection of CMV in formalin-fixed, paraffin-embedded tissue.

Autopsy↗

Human papillomavirus and carcinoma of the urinary bladder.

The human papillomaviruses have been strongly associated with anogenital cancers. Sporadic reports have linked papillomavirus infection to bladder neoplasms. We analyzed 27 normal and malignant bladder tissue samples for the presence of human papillomavirus by in situ DNA hybridization and the polymerase chain reaction. Only one invasive, keratinizing squamous cell carcinoma was found to contain human papillomavirus DNA. This occurred in a 61-yr-old female who was immunocompetent and had no previous evidence of papillomavirus-associated disease. This case represents the first invasive carcinoma of the bladder associated with papillomavirus infection.

Aged↗

Effects of antimutagens on prophage induction in E coli lysogenic for lambda.

The effects of caffeine, acriflavine, spermine, quinacrine, and adenosine on spontaneous and UV-induced prophage induction in repair-proficient and -deficient strains of lysogenic Escherichia coli were examined. Caffeine caused a coinducing effect on UV induction in KMBL 160 (repair proficient) and KMBL 163 (uvrA), an anti-inducing effect in KMBL 161 (uvrE), and had no detectable effect in KMBL 164 (uvrC). Acriflavine increased UV induction in KMBL 160 and decreased it in all three repair-deficient mutant strains. Spontaneous induction was reduced by acriflavine in all four strains. Spermine caused a decrease in UV induction in KMBL 160 and KMBL 164, while it had limited effect in KMBL 161 and KMBL 163. For spontaneous induction spermine caused an increase in KMBL 160 and KMBL 163, a decrease in KMBL 164 and no detectable effect in KMBL 161. Quinacrine had no significant effect on spontaneous induction in KMBL 160 and KMBL 164, but caused a decrease in spontaneous induction in KMBL 161 and KMBL 163. Quinacrine produced no effect on UV induction in KMBL 160; however, it decreased UV induction in the three repair-deficient strains to some extent. A significant increase in spontaneous induction in KMBL 160 was caused by adenosine, while it had little effect in the repair-deficient strains. UV induction was not affected by adenosine.

Acriflavine↗

Amplification and overexpression of HER-2/neu are uncommon in advanced stage melanoma.

The HER-2/neu proto-oncogene is a useful prognostic and predictive biomarker in breast cancer. In addition, use of a humanized monoclonal antibody against HER-2/neu has recently been shown to have efficacy in the treatment of metastatic breast cancer. In order to examine the potential of HER-2/neu as a biomarker and as a target for HER-2/neu monoclonal antibody treatment in melanoma, we examined the HER-2/neu status in 40 advanced stage melanomas. Using fluorescence in situ hybridization for determining the gene amplification status and immunohistochemistry for detecting protein overexpression, we found that only one out of 40 cases of melanoma had an altered HER-2/neu status. These results demonstrated that HER-2/neu amplification and overexpression are not common in advanced stage melanoma and thus, HER-2/neu would have limited value as a biomarker or as a target for immunotherapy in melanoma.

Chromosomes, Human, Pair 17↗

Lipoblastoma presenting as a mesenteric mass in an infant.

PURPOSE: This article describes an infant with a large abdominal mass and hypertension. PATIENT AND METHODS: A 5-month-old infant girl with diarrhea of 1 week's duration and a large right-sided abdominal mass was brought for treatment. Computed tomography of the abdomen revealed a large, generally homogeneous, hypodense mass, which compressed the right kidney, resulting in dilatation of the right renal collecting system. At surgery, the mass was adherent anteriorly to the transverse colon and attached by a stalk to the mesentery near the origin of the right colic artery. RESULTS: Examination of the mass showed an encapsulated lipoblastoma. Cytogenetic analysis revealed a 46,XX karyotype with a reciprocal translocation between chromosome 2 and chromosome 8 with breakpoints at q23 and q11.2, respectively. CONCLUSION: Lipoblastoma is a rapidly growing but benign tumor, which can cause severe medical problems by compressing major organs. Cytogenetic analysis can reveal translocations involving chromosome 8 band q11.2, which appears to be a specific chromosome marker for lipoblastoma.

Abdominal Neoplasms↗