842 results match your criteria Diagnostic Molecular Pathology [Journal]


Diagnostic molecular pathology: AIMMing higher.

Authors:
Mark H Stoler

Diagn Mol Pathol 2013 Dec;22(4):189

Editor-in-Chief of Diagnostic Molecular Pathology.

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http://dx.doi.org/10.1097/PDM.0000000000000040DOI Listing
December 2013
4 Reads

A comparison of methods for EGFR mutation testing in non-small cell lung cancer.

Diagn Mol Pathol 2013 Dec;22(4):190-5

*Molecular Genetics Department, Royal Devon and Exeter NHS Trust, Exeter †Molecular Genetics, Institute of Medical Genetics, Cardiff and Vale NHS Trust, Cardiff, Wales ‡Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford §Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Wiltshire ∥Bristol Genetics Laboratory, Southmead Hospital, Bristol ¶Department of Pathology, Warwick Medical School, University Hospitals Coventry and Warwickshire, Coventry #Regional Molecular Genetics Service, Genetic Medicine (6th Floor), St Mary's Hospital, Manchester **Molecular Diagnostics, Royal Surrey County Hospital ‡‡Molecular Diagnostics, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Surrey ††Molecular Malignancy Laboratory, Department of Histopathology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust ∥∥Horizon Discovery Ltd., Waterbeach, Cambridge §§Sheffield Diagnostic Genetics Service, Sheffield, UK.

EGFR mutation testing of tumor samples is routinely performed to predict sensitivity to treatment with tyrosine kinase inhibitors for patients with non-small cell lung cancer. At least 9 different methodologies are employed in UK laboratories, and the aim of this study was to compare the sensitivity of different methods for the detection of EGFR mutations. Participating laboratories were sent coded samples with varying mutation loads (from 0% to 15%) to be tested for the p. Read More

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http://pdfs.journals.lww.com/molecularpathology/2013/12000/A
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http://dx.doi.org/10.1097/PDM.0b013e318294936cDOI Listing
December 2013
44 Reads

EGFR autophosphorylation but not protein score correlates with histologic and molecular subtypes in lung adenocarcinoma.

Diagn Mol Pathol 2013 Dec;22(4):204-9

*Department of Pulmonology †2nd Department of Pathology, Semmelweis University ‡National Korányi Institute of Pulmonology ∥HAS-SU Molecular Oncology Research Group, Budapest, Hungary §Department of Pathology, Medical University of Graz, Graz, Austria.

Established clinicopathologic characteristics of non-small cell lung cancer patients define a subgroup responding better to EGFR-TK inhibitors: adenocarcinoma histology, ethnicity, sex, smoking status, presence of activating EGFR mutation, and/or K-RAS wild type. However, EGFR mutation does not automatically lead to increased activity of the protein influenced by several factors. As adenocarcinoma can be further divided into histologic subclasses, we compared adenocarcinomas without lepidic growth pattern (NLAC) to those characterized by pure or predominant lepidic growth (LAC) for EGFR protein expression and autophosphorylation activity (Y1173), as determined by immunohistochemistry. Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182936957DOI Listing
December 2013
12 Reads

Influence of parasite density and sample storage time on the reliability of Entamoeba histolytica-specific PCR from formalin-fixed and paraffin-embedded tissues.

Diagn Mol Pathol 2013 Dec;22(4):236-44

*Department of Tropical Medicine, Bernhard Nocht Institute, German Armed Forces Hospital of Hamburg ‡Bernhard Nocht Institute for Tropical Medicine, Hamburg †Institute for Medical Microbiology, Virology and Hygiene, University Hospital Rostock, Rostock, Germany.

We report on the reliability of polymerase chain reaction (PCR) for the detection of Entamoeba histolytica from formalin-fixed, paraffin-embedded tissue in comparison with microscopy and have determined predictors that may influence PCR results. E. histolytica-specific and Entamoeba dispar-specific real-time PCR and microscopy from adjacent histologic sections were performed using a collection of formalin-fixed, paraffin-embedded tissue specimens obtained from patients with invasive amebiasis. Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182936936DOI Listing
December 2013
13 Reads

A comparative study of standard cytogenetic evaluation and molecular karyotyping for products of conception.

Diagn Mol Pathol 2013 Dec;22(4):228-35

Pathology Queensland, Brisbane, Qld, Australia.

Genetic analysis of fetal tissue provides valuable information regarding the underlying causes of miscarriage. However, current analysis techniques are limited and expensive. This trial compared a molecular multiplex, bead-based suspension array, KaryoLite Bacs on Beads, with conventional tissue culture and G-banded karyotype techniques. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31829265abDOI Listing
December 2013
9 Reads

Development and clinical validation of a multiplex real-time PCR assay for herpes simplex and varicella zoster virus.

Diagn Mol Pathol 2013 Dec;22(4):245-8

Departments of *Laboratory Medicine ‡Dermatology, Changi General Hospital †Department of STI Control, National Skin Centre, Singapore, Singapore.

Herpes simplex virus (HSV) and varicella zoster virus (VZV) are related members of the Herpesviridae family and are well-documented human pathogens causing a spectrum of diseases, from mucocutaneous disease to infections of the central nervous system. This study was carried out to evaluate and validate the performance of a multiplex real-time polymerase chain reaction (PCR) assay in detecting and differentiating HSV1, HSV2, and VZV from clinical samples. Consensus PCR primers for HSV were designed from the UL30 component of the DNA polymerase gene of HSV, with 2 separate hydrolysis probes designed to differentiate HSV1 and HSV2. Read More

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http://pdfs.journals.lww.com/molecularpathology/2013/12000/D
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http://dx.doi.org/10.1097/PDM.0b013e3182914291DOI Listing
December 2013
21 Reads

Methylation profile analysis of DNA repair genes in hepatocellular carcinoma with MS-MLPA.

Diagn Mol Pathol 2013 Dec;22(4):222-7

Department of Medical Genetics, Pathology, and General Surgery, Faculty of Medicine, Baskent University, Ankara, Turkey.

Hepatocellular carcinoma (HCC) is one of the rare tumors with well-defined risk factors. The multifactorial etiology of HCC can be explained by its complex molecular pathogenesis. In the current study, the methylation status of 7 genes involved in DNA repair mechanisms, namely MLH1, PMS2, MSH6, MSH2, MGMT, MSH3, and MLH3, was investigated in tumor samples from HCC patients, using the methylation-specific-multiplex ligated probe amplification method and the results were correlated with available clinical findings. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31828ed856DOI Listing
December 2013
5 Reads

An analytical method for the quantification of hERG1 channel gene expression in human colorectal cancer.

Diagn Mol Pathol 2013 Dec;22(4):215-21

*Department of Experimental and Clinical Medicine, University of Florence, Viale GB Morgagni †Istituto Toscano Tumori, Firenze ‡Clinical Trials Coordinating Center, Istituto Toscano Tumori/Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy.

Cancer molecular investigation revealed a huge molecular heterogeneity between different types of cancers as well as among cancer patients affected by the same cancer type. This implies the necessity of a personalized approach for cancer diagnosis and therapy, on the basis of the development of standardized protocols to facilitate the application of molecular techniques in the clinical decision-making process. Ion channels encoding genes are acquiring increasing relevance in oncological translational studies, representing new candidates for molecular diagnostic and therapeutic purposes. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31828e55c7DOI Listing
December 2013
5 Reads

Pyrosequencing for EGFR mutation detection: diagnostic accuracy and clinical implications.

Diagn Mol Pathol 2013 Dec;22(4):196-203

*Department of Surgical and Morphological Sciences, Anatomic Pathology Unit, University of Insubria, Varese, Italy †Oncology Unit, Ospedale di Circolo, Varese, Italy.

EGFR-activating mutations predict responsiveness to EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC) patients. Mutation screening is crucial to support therapeutic decisions and is commonly conducted using dideoxy sequencing, although its sensitivity is suboptimal in clinical settings. To evaluate the diagnostic performance of pyrosequencing and dideoxy sequencing, we examined EGFR mutation status in a retrospective cohort of 53 patients with NSCLCs clinically selected for TKI therapy and whose clinical outcome was available. Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182893f55DOI Listing
December 2013
23 Reads

Frequent PIK3CA mutations in radial scars.

Diagn Mol Pathol 2013 Dec;22(4):210-4

*Department of Pathology †Knight Cancer Institute, Oregon Health & Science University, Portland, OR.

Radial scars are breast lesions of uncertain pathogenesis that are associated with a 2-fold increased risk of breast cancer compared with that in controls. Activating point mutations in PIK3CA are found in 25% to 30% of invasive breast cancers; however, they have not previously been investigated in radial scars. We sought to evaluate radial scars for known activating point mutations commonly seen in invasive breast cancer. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318288b346DOI Listing
December 2013
6 Reads

Optimal reference genes for normalization of qRT-PCR data from archival formalin-fixed, paraffin-embedded breast tumors controlling for tumor cell content and decay of mRNA.

Diagn Mol Pathol 2013 Sep;22(3):181-7

Department of Experimental Clinical Oncology, Aarhus University Hospital, DK-8000 Aarhus C, Denmark.

Reliable determination of gene-expression levels from qRT-PCR requires accurate normalization of target genes to reference genes in order to remove nonbiological variation. Reference genes are ideally constitutively expressed in every cell, but many genes used for normalization has been shown to vary with tissue type, cellular proliferation, cancer progression, and degradation of nucleic acids. Gene-expression analysis is increasingly performed on degraded mRNA from formalin-fixed, paraffin-embedded tissue (FFPE), giving the option of examining retrospective cohorts. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318285651eDOI Listing
September 2013
7 Reads

A predictive factor of the quality of microarray comparative genomic hybridization analysis for formalin-fixed paraffin-embedded archival tissue.

Diagn Mol Pathol 2013 Sep;22(3):174-80

Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Utilizing formalin-fixed paraffin-embedded (FFPE) archival tissue, the most common form of tissue preservation in routine practice, for cytogenetic analysis using microarray comparative genomic hybridization (aCGH) remains challenging. We searched for a predictive factor of the performance of FFPE DNA in aCGH analysis. DNA was extracted from 63 FFPE archival tissue samples of various tissue types (31 breast cancers, 24 lung cancers, and 8 thyroid tumors), followed by aCGH analysis using high-density oligonucleotide microarrays. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31828191deDOI Listing
September 2013
11 Reads

The effect of aging of formalin-fixed paraffin-embedded tissues on the in situ hybridization and immunohistochemistry signals in cervical lesions.

Diagn Mol Pathol 2013 Sep;22(3):164-73

The Ohio State University Medical Center, The Ohio State University.

Formalin-fixed, paraffin-embedded tissues are widely used in biomedical research but little is known about the effect of the age of the block or unstained slides on the in situ hybridization or immunohistochemistry signal. We compared the in situ-based and immunohistochemistry-based signals for cervical intraepithelial neoplasia samples that ranged from 0 to 15 years of age. There was a progressive and statistically significant decrease in the strength of the p16 signal when comparing tissues prepared from recent unstained slides (0 to 1 y old, mean score of 92%) to those of intermediate age (5 to 7 y old, mean score of 49%) to old unstained slides (cut 13 to 15 y ago, mean score of 10%). Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182823701DOI Listing
September 2013
15 Reads

Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant.

Diagn Mol Pathol 2013 Sep;22(3):161-3

Department of Medicine, Saint Barnabas Medical Center, Livingston, NJ 070399, USA.

APC*E1317Q is a low-penetrance variant of the APC gene suggested as a risk for the development of colorectal adenomas and carcinomas. There is very little in the literature describing the molecular details of APC*E1317Q in tumor tissue. We provide information about the molecular genetics of 3 patients with APC*E1317Q. Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182830889DOI Listing
September 2013
4 Reads

FLT3 mutations in myeloproliferative neoplasms: the Beaumont experience.

Diagn Mol Pathol 2013 Sep;22(3):156-60

Department of Clinical Pathology, William Beaumont Health System, Royal Oak, MI 48073, USA.

FLT3 is one of the most frequently mutated genes in acute myeloid leukemia. Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31828564feDOI Listing
September 2013
9 Reads

Tandem duplication PCR: an ultrasensitive assay for the detection of internal tandem duplications of the FLT3 gene.

Diagn Mol Pathol 2013 Sep;22(3):149-55

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Internal tandem duplication (ITD) mutations of the FLT3 gene have been associated with a poor prognosis in acute myeloid leukemia. Detection of ITD-positive minor clones at the initial diagnosis and during the minimal residual disease stage may be essential. We previously designed a delta-PCR strategy to improve the sensitivity to 0. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31828308a1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744591PMC
September 2013
21 Reads

Evaluation of a BeadXpress assay for a 151-mutation and variant CFTR screening panel after 11,000 samples: implications for practice.

Diagn Mol Pathol 2013 Sep;22(3):144-8

aMDx Laboratory Sciences, Ann Arbor, MI 48103, USA.

We created a 151-mutation and variant screening panel for cystic fibrosis transmembrane regulator (CFTR) using the Illumina Inc. BeadXpress platform (San Diego, CA). The laboratory developed test was validated using a third-party blinding of a set of 450 samples split with an authority laboratory that provides a large panel CFTR screening and 50 diverse controls admixed randomly. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318286b4c0DOI Listing
September 2013
6 Reads

Evaluation of 2 real-time PCR assays for in vitro diagnostic use in the rapid and multiplex detection of EGFR gene mutations in NSCLC.

Diagn Mol Pathol 2013 Sep;22(3):138-43

Department of Pathology, Division of Molecular Pathology, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong.

Activating mutations of the epidermal growth factor receptor (EGFR) gene in non-small cell lung cancer predict for a favorable clinical response to tyrosine kinase inhibitor therapy. Although Sanger sequencing is a conventional method to detect EGFR gene mutations, multiplex real-time allele-specific polymerase chain reaction (PCR) systems are increasingly used in the routine molecular diagnostic setting. We aim to evaluate 2 proprietary real-time PCR assays (cobas and therascreen) against Sanger sequencing in the detection of EGFR gene mutations. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827fedccDOI Listing
September 2013
17 Reads

Prognostic and putative predictive biomarkers of gastric cancer for personalized medicine.

Diagn Mol Pathol 2013 Sep;22(3):127-37

Departments of Pathology, Christian-Albrechts-University, Kiel.

We investigated various phenotypic and genotypic biomarkers of gastric cancer (GC) testing the following hypotheses: are these biomarkers suitable for the identification of GC subtypes, are they of prognostic significance, and should any of these biomarkers be considered to tailor patient treatment in the future. The study cohort consisted of 482 patients. pTNM-stage was based on surgical pathologic examination. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318284188eDOI Listing
September 2013
26 Reads
15 Citations
2.275 Impact Factor

Genetic diagnosis in recently transfused patients.

Diagn Mol Pathol 2013 Jun;22(2):123-6

Laboratory of Genetic Identification, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

Analysis of recently transfused patients is usually postponed to avoid spurious results because of contamination with donor's cells. However, little is known about the extent of this influence in routine molecular diagnostic tests. To elucidate this question, we tested a mix of blood samples from 2 α-1-antitrypsin-deficient patients diagnosed as Pi*Z homozygous with 1 normal donor at 1:1, 1:10, 1:20, and 1:30 proportions. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827630b8DOI Listing
June 2013
5 Reads

Gallbladder carcinoma: high rate of mitochondrial D-loop mutations.

Diagn Mol Pathol 2013 Jun;22(2):119-22

Department of Biochemistry, VBS Purvanchal University, Jaunpur, India.

The molecular mechanisms leading to gallbladder carcinoma (GBC) are poorly understood. Different molecular disorders, including nuclear and mitochondrial genomic alteration, are associated with different cancers. The frequency of mitochondrial genome mutation has remained completely unexplored. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827a0d5aDOI Listing
June 2013
6 Reads

High incidence of MYCN amplification in a Moroccan series of neuroblastic tumors: comparison to current biological data.

Diagn Mol Pathol 2013 Jun;22(2):112-8

Laboratory of Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II Aïn Chock University, Casablanca, Morocco.

MYCN protooncogene status was assessed for the first time in Morocco in peripheral neuroblastic tumors, including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Correlations with age at diagnosis, stage, mitosis-karyorrhexis index, differentiation, and Shimada histology were evaluated. Thirty-six formalin-fixed, paraffin-embedded peripheral neuroblastic tumor tissue specimens collected between 2007 and 2010 from the Pathology Department were assessed for MYCN amplification using fluorescence in situ hybridization. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318277448eDOI Listing
June 2013
11 Reads

Xp11.2 translocation renal cell carcinoma with PSF-TFE3 rearrangement.

Diagn Mol Pathol 2013 Jun;22(2):107-11

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.

Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) is a subtype of RCC characterized by translocations involving a breakpoint at the TFE3 gene (Xp11. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318278962eDOI Listing
June 2013
7 Reads

EGFR promoter methylation detection in cervical cancer by a hybridization-fluorescence polarization assay.

Diagn Mol Pathol 2013 Jun;22(2):102-6

Department of Gynecology and Obstetrics, Xijing Hospital, Xi'an, China.

The methylation status of the epidermal growth factor receptor (EGFR) promoter is of potential predictive value for benefitting from EGFR inhibition therapy. Stratified therapy assignment for cervical cancer patients based on the EGFR promoter methylation status requires a simple detection method in the daily practice of diagnosis. A novel assay detecting the EGFR promoter methylation status in cervical cancer tissue samples using a hybridization-fluorescence polarization (FP) technique was developed. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827744adDOI Listing
June 2013
5 Reads

Atypical Epstein-Barr viral genomic structure in lymphoma tissue and lymphoid cell lines.

Diagn Mol Pathol 2013 Jun;22(2):91-101

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, USA.

Epstein-Barr virus (EBV) DNA is found within the malignant cells of some subtypes of lymphoma, and viral presence is being exploited for improved diagnosis, monitoring, and management of affected patients. Recent work suggests that viral genomic polymorphism, such as partial deletion of the viral genome, could interfere with virus detection in tumor tissues. To test for atypical forms of the EBV genome, 98 lymphomas and 6 infected cell lines were studied using a battery of 6 quantitative polymerase chain reaction assays targeting disparate sections of EBV DNA. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318273fb43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655080PMC
June 2013
6 Reads

Effect of HPV assay choice on perceived prevalence in a population-based sample.

Diagn Mol Pathol 2013 Jun;22(2):85-90

Scottish HPV Reference Laboratory, Royal Infirmary of Edinburgh, UK.

Human papillomavirus (HPV) immunization programs clearly have considerable potential to reduce HPV-associated disease; they are also resource-intense; so, it is essential that their effectiveness is determined accurately and in a timely way. Measuring circulating HPV types in a population can provide an early measure of vaccine impact. We assessed the impact of HPV assay on the observed population prevalence of HPV in women who provided samples as part of a National HPV Immunisation Surveillance Exercise. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827f3f7eDOI Listing
June 2013
90 Reads

High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma.

Diagn Mol Pathol 2013 Jun;22(2):76-84

The National Children's Research Centre, Dublin, Ireland.

Ewing sarcoma family tumors are aggressive sarcomas of childhood and adolescence with continuing poor outcomes. Decades of research on the characteristics of the often solitary-known oncogenic-genomic aberration in Ewing sarcoma family tumors, namely a TET-ETS fusion, have provided little advancement in the understanding of the molecular pathogenesis of Ewing sarcoma or treatment thereof. In this study, the high-resolution single-nucleotide polymorphism technology was used to identify additional/secondary copy-number alterations (CNAs) in Ewing sarcoma that might elucidate the aggressive biology of this sarcoma. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827a47f9DOI Listing
June 2013
39 Reads

Evaluation of 2-year experience with EGFR mutation analysis of small diagnostic samples.

Diagn Mol Pathol 2013 Jun;22(2):70-5

Department of Cancer Genetics, National Cancer Institute, Faculty of Medicine, Comenius University, Bratislava, Slovakia.

Mutation analysis of the epidermal growth factor receptor (EGFR) gene is an essential part of the diagnostic algorithm in patients with metastatic or recurrent non-small cell lung cancer (NSCLC). Small biopsies or cytology specimens represent >80% of the available diagnostic material. EGFR mutation analyses were realized on 835 samples (675 cytology specimens, 151 formalin-fixed paraffin-embedded blocks, 5 tumors, and 4 pleural effusions). Read More

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http://dx.doi.org/10.1097/PDM.0b013e31827e6984DOI Listing
June 2013
8 Reads

Analytical validation of a practical molecular assay prognostic of survival in nonsquamous non-small cell lung cancer.

Diagn Mol Pathol 2013 Jun;22(2):65-9

Thoracic Oncology Program, Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.

A molecular assay prognostic of survival in resected nonsquamous non-small cell lung cancer designed to meet the need for improved risk stratification in early-stage disease has recently been described. This assay measures the expression levels of 14 genes using RNA extracted from formalin-fixed, paraffin-embedded (FFPE) tissues. The assay underwent blinded clinical validation in 2 large international cohorts involving approximately 1500 patients; the analytical precision and reproducibility of this assay, however, have not yet been reported. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318273fb61DOI Listing
June 2013
21 Reads

Molecularly enriched pathways and differentially expressed genes distinguishing cutaneous squamous cell carcinoma from pseudoepitheliomatous hyperplasia.

Diagn Mol Pathol 2013 Mar;22(1):41-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

Introduction: Cutaneous squamous cell carcinoma (SCC) is one of the most commonly diagnosed nonmelanoma skin cancers. Occasionally, the diagnosis can be challenging as there are many simulating preneoplastic and reactive squamous lesions. One of the most difficult lesions to differentiate from SCC is pseudoepitheliomatous hyperplasia (PEH). Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182707894DOI Listing
March 2013
10 Reads

A novel COLD-PCR/FMCA assay enhances the detection of low-abundance IDH1 mutations in gliomas.

Diagn Mol Pathol 2013 Mar;22(1):28-34

Division of Molecular Anatomic Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA.

Point mutations in isocitrate dehydrogenase 1 (IDH1) have been identified in many gliomas. The detection of IDH1 mutations becomes challenging on suboptimal glioma biopsies when a limited number of tumor cells is available for analysis. Coamplification at lower denaturing-polymerase chain reaction (COLD-PCR) is a PCR technique that deliberately lowers the denaturing cycle temperature to selectively favor amplification of mutant alleles, allowing for the sensitive detection of low-abundance mutations. Read More

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https://insights.ovid.com/crossref?an=00019606-201303000-000
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http://dx.doi.org/10.1097/PDM.0b013e31826c7ff8DOI Listing
March 2013
10 Reads

BRAF V600E Mutations in Endometrial Adenocarcinoma.

Diagn Mol Pathol 2013 Mar;22(1):35-40

Department of Pathology & Laboratory Medicine, Women & Infants Hospital of Rhode Island, Providence, RI 02905, USA.

The BRAF V600E somatic mutation is recognized as an oncogenic driver of many human cancers involving the MAPK/ERK pathway. Colorectal and lung cancers associated with the BRAF V600E mutation often demonstrated mucinous morphology. This study hypothesized that the BRAF V600E mutation may be associated with mucinous morphology in endometrial cancer and aimed to investigate its prevalence in mucinous (endometrial) carcinoma (MC) and endometrioid adenocarcinoma with significant mucinous differentiations (ECMD) (>10% neoplastic cells). Read More

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http://dx.doi.org/10.1097/PDM.0b013e31826c7fe0DOI Listing
March 2013
7 Reads

Expression analysis on archival material revisited: isolation and quantification of RNA extracted from FFPE samples.

Diagn Mol Pathol 2013 Mar;22(1):59-64

CORE-Antwerp, Laboratory for Cancer Research and Clinical Oncology, University of Antwerp, Antwerp, Belgium.

Background: Formalin-fixed paraffin-embedded (FFPE) tissue is the most readily available source of RNA for the gene expression studies. The main disadvantage is the poor quality of isolated RNA. Our group recently compared 5 commercially available RNA isolation kits and concluded that the RNeasy FFPE kit from Qiagen was the most appropriate one. Read More

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https://insights.ovid.com/crossref?an=00019606-201303000-000
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http://dx.doi.org/10.1097/PDM.0b013e318269de3bDOI Listing
March 2013
10 Reads

Deparaffinization and lysis by hydrothermal pressure (pressure cooking) coupled with chaotropic salt column purification: a rapid and efficient method of DNA extraction from formalin-fixed paraffin-embedded tissue.

Diagn Mol Pathol 2013 Mar;22(1):52-8

Department of Pathology, Health Science Center, Peking University, Beijing, China.

We report a hydrothermal pressure method (pressure cooking) for simultaneous deparaffinization and lysis of formalin-fixed paraffin-embedded tissue followed by conventional chaotropic salt column purification to obtain high-quality DNA. Using this method, the release of DNA occurred within the first minute of treatment, reaching the maximum at 5 minutes. An optimal treatment window was between 5 and 30 minutes. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318263f092DOI Listing
March 2013
4 Reads

Identification of uncommon PIK3CA mutations in lung cancer by using pyrosequencing.

Diagn Mol Pathol 2013 Mar;22(1):22-7

Institut für Pathologie, Kliniken der Stadt Köln gGmbH, Köln, Germany.

Introduction: Phospatidylinositol-3-kinases (PI3K) play an important role in various cell processes. Oncogenic mutations in the PIK3CA gene, which codes for the catalytic subunit, have been identified in various malignancies and activate the PI3K/AKT/mTOR pathway, which is a critical driver of tumorigenesis.

Methods: We tested 41 tumor samples with known KRAS, BRAF, and EGFR mutation status for the occurrence of mutations in the PIK3CA gene, using a pyrosequencing assay. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31825f5f93DOI Listing
March 2013
5 Reads

CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.

Diagn Mol Pathol 2013 Mar;22(1):48-51

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.

More than 90% of congenital adrenal hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3. The major part of disease-causing mutations in CYP21A2 alleles are CYP21A1P-derived sequence transferred to the active gene by macroconversion or microconversion events. Read More

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https://insights.ovid.com/crossref?an=00019606-201303000-000
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http://dx.doi.org/10.1097/PDM.0b013e31825df903DOI Listing
March 2013
6 Reads

Detection of minor clones with internal tandem duplication mutations of FLT3 gene in acute myeloid leukemia using delta-PCR.

Diagn Mol Pathol 2013 Mar;22(1):1-9

Department of Pathology, Johns Hopkins University School of Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.

Internal tandem duplication (ITD) mutations of the FLT3 gene have been associated with inferior prognosis of acute myeloid leukemia. Detection of minor clones or minimal residual clones with ITD mutations is desirable, but is challenging when the mutant signal determined by polymerase chain reaction (PCR) and capillary electrophoresis is weak. In this study, we applied delta-PCR, which is a triple-primer strategy, to ensure PCR specificity and improve the sensitivity to 0. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31825d81f4DOI Listing
March 2013
12 Reads

Modified array-based comparative genomic hybridization detects cryptic and variant PML-RARA rearrangements in acute promyelocytic leukemia lacking classic translocations.

Diagn Mol Pathol 2013 Mar;22(1):10-21

Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

Acute promyelocytic leukemia (APL) is typically defined at the molecular level by a reciprocal translocation of the promyelocytic leukemia (PML) and retinoic acid receptor α (RARA) genes. An accurate diagnosis of APL is critical for appropriate choice of therapy and prognostic assessment. Cryptic and variant rearrangements in APL are discoverable by a variety of molecular methods including fluorescence in situ hybridization (FISH), reverse transcriptase polymerase chain reaction, or gene sequencing. Read More

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http://pdfs.journals.lww.com/molecularpathology/2013/03000/M
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http://dx.doi.org/10.1097/PDM.0b013e31825b8326DOI Listing
March 2013
25 Reads

Biphasic papillary and lobular breast carcinoma with PIK3CA and IDH1 mutations.

Diagn Mol Pathol 2012 Dec;21(4):221-4

Department of Pathology, Oregon Health & Science University, Portland, USA.

Morphologic "special types" of breast carcinomas have been recognized for many years, and their molecular and genetic properties have not been specifically studied until recently. Lobular carcinoma lacks functional E-cadherin expression but shares molecular similarities with low-grade invasive ductal carcinomas. Papillary carcinoma is relatively rare, and molecular features are just being elucidated. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31826ddbd1DOI Listing
December 2012
3 Reads

Pyrosequencing of IDH1 and IDH2 mutations in brain tumors and non-neoplastic conditions.

Diagn Mol Pathol 2012 Dec;21(4):214-20

Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, USA.

The molecular profiling of brain tumors, including testing for MGMT promoter methylation and chromosome 1p/19q deletion, can provide both diagnostic and prognostic information that may guide treatment. Isocitrate dehydrogenase (IDH) mutation testing is a recent addition to this armamentarium of molecular pathology tools that similarly provides both diagnostic (eg, glioma vs. gliosis) and prognostic information. Read More

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http://pdfs.journals.lww.com/molecularpathology/2012/12000/P
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http://dx.doi.org/10.1097/PDM.0b013e31825d802bDOI Listing
December 2012
3 Reads

Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics.

Diagn Mol Pathol 2012 Dec;21(4):189-206

MRC-Holland, Amsterdam, The Netherlands.

The increasing knowledge about genetic alterations and molecular biomarkers in cancer initiation and progression opens new possibilities for the treatment of various types of cancer. This requires the inclusion of sensitive, and preferably multiplex, methods for the detection of molecular genetic alterations in the toolbox of classic pathology. Multiplex ligation-dependent probe amplification (MLPA) is a multiplex polymerase chain reaction-based method that can detect changes in the gene copy number status, DNA methylation, and point mutations simultaneously. Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182595516DOI Listing
December 2012
3 Reads

Reduction in WT1 gene expression during early treatment predicts the outcome in patients with acute myeloid leukemia.

Diagn Mol Pathol 2012 Dec;21(4):225-33

Department of Medical Biosciences, Umeå University, Sweden.

Wilms tumor gene 1 (WT1) expression has been suggested as an applicable minimal residual disease marker in acute myeloid leukemia (AML). We evaluated the use of this marker in 43 adult AML patients. Quantitative assessment of WT1 gene transcripts was performed using real-time quantitative-polymerase chain reaction assay. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318257ddb9DOI Listing
December 2012
5 Reads

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.

Diagn Mol Pathol 2012 Dec;21(4):241-5

National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene. It is a rare monogenic disease characterized by progressive cerebellar ataxia, oculomotor apraxia, axonal sensorimotor neuropathy, and an elevated serum α-fetoprotein level. To date, >100 AOA2 patients have been described and 75 different mutations in the SETX gene have been identified. Read More

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http://dx.doi.org/10.1097/PDM.0b013e318257ad9aDOI Listing
December 2012
14 Reads

CDKN2A (p16) promoter hypermethylation influences the outcome in young lung cancer patients.

Diagn Mol Pathol 2012 Dec;21(4):207-13

Department of Pathology, Rush University Medical Center, Chicago, IL, USA.

Purpose: Non-small cell lung cancer (NSCLC) occurs most frequently in individuals older than 60 years of age. Currently, no biological indicators associated with NSCLC in younger patients (30 to 60 y) have been identified. To explore epigenetic influences, promoter methylation of selected tumor suppressor genes was analyzed in early-stage NSCLC patients ranging in age from 30 to 87 years at diagnosis. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31825554b2DOI Listing
December 2012
3 Reads

Frequencies of BCL2 and BCL6 translocations in representative Chinese follicular lymphoma patients: morphologic, immunohistochemical, and FISH analyses.

Diagn Mol Pathol 2012 Dec;21(4):234-40

Department of Pathology, Tianjin Medical University Cancer Institute, Tianjin, China.

The most common genetic aberration in follicular lymphoma (FL) is the t(14;18)(q32;q21) translocation that juxtaposes the antiapoptotic BCL2 gene with the promoter of the immunoglobulin heavy-chain (IgH) gene, which is the molecular hallmark of FL, whereas a subset of cases harbor translocations involving the BCL6 gene locus. To date, there has been no integrated analysis based on grade, phenotype, and genotype from large numbers of FL cases in a representative Chinese population. In this study, we graded 98 FL cases; fluorescence in situ hybridization was used to determine the BCL2 and BCL6 translocation statuses, and these were compared with morphologic and immunohistochemical parameters. Read More

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PDM.0b013e3182585c3cDOI Listing
December 2012
8 Reads

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.

Diagn Mol Pathol 2012 Sep;21(3):184-7

Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is one of the most common fatty acid oxidation defects that cause sudden unexpected deaths in infants. The death attributed to VLCAD deficiency can be prevented by early diagnosis with expanded newborn screening using tandem mass spectrometry. A favorable outcome can be achieved with early diagnosis and prompt treatment. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31825554d0DOI Listing
September 2012
13 Reads

Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms.

Diagn Mol Pathol 2012 Sep;21(3):176-83

Department of Pathology, University of Michigan, Ann Arbor, Michigan 48109-2200, USA.

Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). One of the criteria in the 2008 World Health Organization Classification divides MPN into different categories based on the presence of an underlying genetic abnormality, however the WHO does not currently address the classification of myeloproliferative neoplasms that have more than one genetic abnormality. The coexistence of a JAK2(V617F) mutation and BCR-ABL1 is rare, and to our knowledge, less than 25 cases have been reported in the literature. Read More

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PDM.0b013e318246975eDOI Listing
September 2012
10 Reads

Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR.

Diagn Mol Pathol 2012 Sep;21(3):172-5

Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future. The SMA carrier analysis developed at the Institute of Medical Genetics, Catholic University (Rome), on the Applied Biosystems real-time PCR instruments by Dr Danilo Tiziano and his group, provides a robust workflow to evaluate SMA carrier status. Read More

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http://dx.doi.org/10.1097/PDM.0b013e31824696b6DOI Listing
September 2012
14 Reads

Potential association between ANXA4 polymorphisms and aspirin-exacerbated respiratory disease.

Diagn Mol Pathol 2012 Sep;21(3):164-71

Department of Life Science, Sogang University, Seoul, Republic of Korea.

Aspirin-exacerbated respiratory disease (AERD) is a clinical syndrome characterized by bronchoconstriction after ingestion of nonsteroidal anti-inflammatory drugs including aspirin. The Ca concentration in bronchial epithelial cells is an important factor for bronchoconstriction. Human annexin A4 (ANXA4) is predominantly expressed in the secretory epithelia in the lung, stomach, intestine, and kidney. Read More

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http://dx.doi.org/10.1097/PDM.0b013e3182461d0dDOI Listing
September 2012
10 Reads