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At least 325 records · Page 18Linked to original sources
PubMed2006

A molecular diagnostic test for distinguishing lung adenocarcinoma from malignant mesothelioma using cells collected from pleural effusions.

PURPOSE: Patients with malignant mesothelioma or adenocarcinoma of the lung often present with respiratory complications associated with a malignant pleural effusion. Distinguishing between these malignancies is frequently problematic, as many of the clinical, cytologic, and histologic features of the diseases overlap. Following cytologic analysis of pleural effusions, subsequent confirmatory tissue biopsies involve increased patient morbidity and expense. We have therefore designed a gene expression-based test to classify the primary tumor causing a malignant pleural effusion, using cells collected from the effusion itself. EXPERIMENTAL DESIGN: We have used microarray data for 190 lung adenocarcinomas and 33 malignant mesotheliomas to identify genes differentially expressed between the two diseases. Genes expressed in normal mesothelial cells were removed, allowing the development of a PCR-based test to measure the expression of genes that discriminate between mesothelioma and lung adenocarcinoma from cytology specimens. RESULTS: Applying an real-time PCR-based assay involving 17 genes to 13 independent samples from biopsy-proven malignant mesothelioma and lung adenocarcinomas resulted in the correct identification of all samples. CONCLUSIONS: We have developed a test that is able to distinguish between lung adenocarcinoma and mesothelioma in cells collected from pleural effusions.

Adenocarcinoma↗
PubMed2006

APTIMA PCA3 molecular urine test: development of a method to aid in the diagnosis of prostate cancer.

BACKGROUND: Prostate cancer gene 3 (PCA3) encodes a prostate-specific mRNA that has shown promise as a prostate cancer diagnostic tool. This report describes the characterization of a prototype quantitative PCA3-based test for whole urine. METHODS: Whole-urine specimens were collected after digital rectal examination from 3 groups: men scheduled for prostate biopsy (n = 70), healthy men (<45 years of age with no known prostate cancer risk factors; n = 52), and men who had undergone radical prostatectomy (n = 21). PCA3 and prostate-specific antigen (PSA) mRNAs were isolated, amplified, and quantified by use of Gen-Probe DTS400 Systems. Prostate biopsy results were correlated with the PCA3/PSA mRNA ratio, and PSA mRNA concentrations were used to normalize PCA3 signals and confirm the yield of prostate-specific RNA. Assay precision, specimen stability, and mRNA yield were also evaluated. RESULTS: The specimen informative rate (fraction of specimens yielding sufficient RNA for analysis) was 98.2%. In this clinical research study, ROC curve analysis of prebiopsy specimens yielded an area under the curve of 0.746; sensitivity was 69% and specificity 79%. Serum PSA assay specificity was 28% for this same group. PCA3 and PSA mRNAs were undetectable in postprostatectomy specimens except for one man with recurrent prostate cancer. Assay interrun CVs were < or =12%. Both mRNAs were stable in processed urine up to 5 days at 4 degrees C and after 5 freeze-thaw cycles. CONCLUSION: The APTIMA PCA3 assay combines simple specimen processing with precise assays and existing instruments and could add specificity to the current algorithm for prostate cancer diagnosis.

Aged↗
PubMed1994

Hereditary nonpolyposis colorectal carcinoma (HNPCC): clinical application of molecular diagnostic testing.

An increased risk of colorectal cancer amongst close relatives of afflicted patients has been recognized for some time. Hereditary nonpolyposis colorectal cancer (HNPCC) represents an extreme example of this risk, in which single-gene inheritance predisposes relatives of affected family members. Approaches to surveillance and management of subjects at greater or lesser heritable risk have been evolving in the past two decades, but these efforts have suffered due to our inability to better characterize and quantify that risk. Recent discovery of susceptibility loci that are linked to disease in HNPCC has already begun to refine our understanding of the pathogenesis of the disease. At a clinical level, these advances now offer an improved ability to recognize carriers of the condition. Speculation is provided as to the probable utility of genetic testing in groups with varying strengths of colorectal cancer familiality. Notions of how positive and negative tests might be applied to surveillance and treatment are explored.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed1999

Impact of molecular (DNA) testing on determination of parentage.

OBJECTIVE: To examine changes in parentage testing practices since the introduction of DNA polymorphisms. METHODS: Comparison of data from American Association of Blood Banks (AABB) annual questionnaires and the responses of participants to AABB-College of American Pathologists proficiency test panels. RESULTS: DNA polymorphisms have led to a complete change in the technical methods used by parentage testing laboratories. CONCLUSIONS: The widespread use of DNA methods has increased the power of the information routinely provided to the courts in cases of disputed paternity, to agencies needing information about relatedness, and to the individuals who are tested.

Blood Banks↗
PubMed1999

The future of molecular genetic testing.

The potential applications for genetic testing are immense, with most diseases having some aspect influenced by, if not directly caused by, changes in the genome of the patient. The translation of genetic information into medical applications will be influenced by our understanding of the human genome, technological advances, and social, ethical, and legal issues surrounding genetic testing. With time, new genetic information will be translated into clinical tests for the diagnosis of current illness and prediction of future disease risk, and will be used for the development of genetically directed therapies and preventive interventions. Most genetic testing will be highly automated, with only rare genetic disease tests performed manually. The challenge for the clinical genetic laboratory is to keep pace with this information explosion to provide state-of-the-art genetic testing and to ensure that the genetic test results are used in a morally, ethically, and socially responsible way.

DNA↗
PubMed1999

[Molecular biological testing for diagnosis and treatment of urothelial cancer].

Detection of urinary telomerase activity is superior to the conventional urine cytological examination in terms of sensitivity for diagnosis of low grade urothelial cancers. Several causative factors including pyuria and hematuria which might have affected falsely positive and negative rates of urinary telomerase activity were investigated but their influence seemed negligible. As for progression from superficial to invasive urothelial cancers, destruction of the basement membrane underlying tumor is considered as an important event in the initial step of invasion. Our immunohistochemical analyses revealed that expression of type IV collagen in the basement membrane was reduced or disappeared in more than half of grade 2 to 3, pTa urothelial cancers. Overexpression of p53 tumor suppressor and/or mdm2 oncoprotein was strongly correlated with this basement membrane destruction. Urothelial cancers harboring p53 aberration may be resistant to cisplatin-based chemotherapy because of impairment of apoptosis induction. The relationship between chemosensitivity and p53 status in urothelial cancers was investigated, and a favorable response to neoadjuvant chemotherapy was found in tumors without p53 aberration.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2002

[Molecular genetic testing in amniotic fluid].

The recent progress in cloning and sequencing the genes responsible for genetic diseases and the use of Polymerase Chain Reaction (PCR) allow to test genetic diseases with a few quantity of DNA. Amniotic cells are easily sampled by using amniocentesis. When abnormal ultrasound allows to suspect a genetic disease, PCR on DNA from amniotic cells is a very efficient test to confirm or exclude the presence of the disease. Microsatellites sequences can be used on amniotic cells as a rapid test for chromosomal aneuploidies.

Amniocentesis↗
PubMed2005

[Helicobacter pylori--clinical manifestations, diagnosis and therapy].

During the past 20 years the role of Helicobacter pylori have been topic of intensive research. Studies have established that H. pylori can cause acute and chronic gastritis, duodenitis, gastric peptic ulcers and duodenal ulcers non-ulcer dyspepsia and Weird diseases and syndroms. H. pylori has been identified as a risk factor for gastric cancer and MALT-lymphoma. Nearly more than 90% of patients with duodenal ulcus, more than 70% of those with gastric ulcer and more than 80% patients with the gastric cancer have H. pylori infection. The discovery of the infective nature of peptic diseases and involvement of of H. pylori in theirs aetiology has begin to change our views on haw to approach diagnosis and therapeutic treatment in the practice. For this aim have been developed several methods which can be used to diagnose of H. pylori: invasive as endoscopy and non-invasive such as urea-breath-test, detection of antigens in stool, detection of specific antibodies in patients sera by means of serological tests--ELISA and Immunblott, molecular tests PCR and fluorescence-in situ- hybridisation for the detection of H. pylori and its resistance for clarithromycine and metronidazole. There are several effective treatments which can cure gastric and duodenal ulcers as well as prevent theirs recurrences.

Gastrointestinal Diseases↗
PubMed1993

Testing HIV molecular biology in in silico physiologies.

The natural and medical sciences have strongly benefitted from technological advances that help to create and store more raw information than can be effectively processed. In particular, this rapid growth has created a strong need for a flexible and far-reaching approach to cross-database simulation. The paper uses a highly simplified example, called the 'TinyMouse' simulator, to explain the design and functioning of interactive cross-database simulators that can be applied to prototype experiments with animal models of human disease, such as the hu-SCID mouse model for the Acquired Immune Deficiency Syndrome (AIDS). Work in progress is discussed to extend 'TinyMouse' into 'CyberMouse', an informational organism that synthesizes factual databases of the murine neuroendocrine-immune system.

Animals↗