FISH appears to be useful for monitoring patients with superficial bladder cancer for the response to intravesical therapy. Patients with a positive FISH result at the end of treatment are at high risk for progression to muscle invasive bladder cancer.
The goal of this study was to identify a set of fluorescence in situ hybridization probes for the detection of dysplasia and adenocarcinoma in patients with Barrett's esophagus. We examined 170 brushing specimens from 138 patients with Barrett's esophagus or a history of Barrett's esophagus using fluorescence in situ hybridization with probes to 5p15, 5q21-22, centromere 7, 7p12, 8q24.12-13, centromere 9, 9p21, centromere 17, 17p13.1, 17q11.2-12, 20q13.2, and centromere Y. Receiver-operator curves were used to determine the sensitivity and specificity of various four-probe combinations for detecting low-grade dysplasia, high-grade dysplasia, and esophageal adenocarcinoma. Endoscopic biopsy results were used as the gold standard. Numerous four-probe combinations provided a similarly high sensitivity and specificity. Of these, a set consisting of probes to 8q24, 9p21, 17q11.2, and 20q13.2 was found to have a sensitivity and specificity, respectively, of 70% and 89% for low-grade dysplasia, 84% and 93% for high-grade dysplasia, and 94% and 93% for esophageal adenocarcinoma. This probe set was chosen for future prospective clinical evaluations based on its high sensitivity and specificity, its ability to distinguish adenocarcinoma and high-grade or low-grade dysplasia from lesser diagnostic categories, and the favorable signal quality for each of the probes. The majority of esophageal adenocarcinomas is thought to arise in patients with Barrett's esophagus. Barrett's esophagus is a preneoplastic condition caused by metaplasia of the normal squamous mucosa of the distal esophagus into specialized intestinal mucosa containing goblet cells.1 Individuals with Barrett's esophagus have a 30-to 60-fold elevated risk of developing adenocarcinoma and develop adenocarcinoma at a rate of ϳ0.5 to 1.0% per year of follow-up. 2-5The American College of Gastroenterology has recommended that Barrett's esophagus patients be monitored for the development of dysplasia and adenocarcinoma by undergoing regular endoscopic examinations of the esophagus and obtaining four-quadrant biopsies for every 1 to 2 cm of affected esophagus.6,7 However, there are problems associated with the use of biopsies for monitoring Barrett's esophagus patients for the development of neoplasia including: 1) limited sampling of the affected mucosa leading to false-negative biopsy results, 8 2) lengthy procedure time required to take fourquadrant biopsies every 1 to 2 cm, 7 3) poor interobserver reproducibility of pathologists for the diagnosis of dysplasia, 9 and 4) relatively poor ability of histological findings to predict which patients are likely to progress to adenocarcinoma.10 Assays that improve the ability to accurately detect dysplasia and esophageal adenocarcinoma as well as predict which patients will progress to adenocarcinoma could markedly improve the clinical management of these patients. Conventional cytology is not routinely performed on endoscopic brushings obtained from patients with Barrett's esophagus in most institutions, and there are rel...
Purpose: A complete set of subtelomeric fluorescent DNA probes, except the acrocentric p-arms, was developed in 1996, was optimized in 1998, and is commercially available. These and other fluorescence in situ hybridization (FISH) probes have been used to detect anomalies of the subtelomere regions among groups of patients with idiopathic mental retardation (MR), developmental delay (DD), and/or nonspecific dysmorphic features (NDF), and individuals with multiple miscarriages (MM) who were karyotypically normal by standard G-banding techniques.Methods: A total of 425 patients were analyzed, of whom 372 had idiopathic MR/DD/NDF and 53 were involved in MM. An effort was made to select individuals for this study who were either normal karyotypically or who had subtle chromosomal anomalies that were inconclusive by banded chromosome analysis, although this was not always possible. Results: Anomalies involving the subtelomere regions were detected at a frequency of 6.8% in the MR/DD/NDF group. The cryptic or subtle anomalies are estimated to be about 3.4%. It was necessary to use M-FISH, chromosome, and locus specific FISH probes to clarify some of the abnormalities. No abnormalities were detected in the MM group. Deletion variants were present for 2qter, 7pter, and Xpter/Ypter subtelomeric regions ranging from Ͻ1 to 9.6%. Conclusions: The subtelomeric FISH probes are instrumental in the detection of subtelomeric anomalies in a significant proportion, although no more than 50% are subtle, of patients with idiopathic MR/DD/NDF. In some cases, however, it was necessary to use other FISH probes to clarify the nature of these abnormalities. No subtelomeric abnormalities were detected in our group of 53 MM patients, suggesting a relatively low frequency of occurrence in this patient population. Genet Med 2003:5(1):28 -34.
Recent studies have indicated that numerical chromosomal abnormalities including changes in p53 and cyclin D1 may be involved in Hurthle cell tumorigenesis. We analyzed a series of Hurthle cell neoplasms of the thyroid to evaluate the diagnostic and prognostic utility of numerical anomalies by DNA fluorescent probes for cyclin D1 and p53 gene loci and chromosomes 5, 7, 11, 12, 17, and 22. Interphase fluorescence in situ hybridization (FISH) analysis was performed on paraffin-embedded tissue sections from 10 Hurthle cell adenomas, 19 Hurthle cell carcinomas, and 7 normal thyroid tissues used as controls. Directly labeled fluorescent DNA probes for the centromere region of chromosomes 7, 11, 12, and 17 and locus-specific probes for chromosomes 5 and 22, cyclin D1, and p53 were utilized for dual-probe hybridizations. Sixty percent (6 of 10) Hurthle cell adenomas and 63% (12 of 19) Hurthle cell carcinomas showed chromosome gains. Twenty percent (2 of 10) Hurthle cell adenomas and 26% (5 of 19) Hurthle cell carcinomas showed chromosome losses. Normal thyroid tissues used as controls showed no chromosomal abnormalities. Among Hurthle cell tumors with chromosomal abnormalities, adenomas averaged 2.7 gains and 0.3 losses per case, and carcinomas averaged 3.3 gains and 0.6 losses per case. The two adenomas with chromosome losses each showed loss of one chromosome, whereas the five carcinomas with losses averaged 1.8 losses per case. Chromosome 22 was the most common loss identified, occurring in three of the 11 patients who died of disease. These results indicate that chromosomal imbalances as gains are common in both benign and malignant Hurthle cell neoplasms, but Hurthle cell carcinomas tend to have more chromosome losses than adenomas. Among Hurthle cell carcinomas in this study, chromosome losses were identified only from patients who died of disease. The loss of chromosome 22 may have prognostic value in Hurthle cell carcinoma of the thyroid.
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