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Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B

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https://www.readbyqxmd.com/read/24569787/squamous-cell-carcinoma-arising-in-association-with-verruca-vulgares-and-hpv-2-a-clinicopathologic-study-with-p16-and-p53-immunohistochemical-studies-and-human-papillomavirus-in-situ-hybridization-studies
#1
Steven M Ruhoy, Donald G Guinee, Gerard Nuovo
BACKGROUND: We observed cutaneous squamous cell carcinomas of the skin (SCCS) with histologic features suggesting they are arising in association with verruca vulgares (SCC-VV). We analyzed SCC-VV to determine what types of human papillomaviruses (HPVs) could be detected by in situ hybridization. We also analyzed demographic and clinical features and performed immunohistochemical studies for p53, p16, and Ki-67. MATERIALS AND METHODS: Five cases of SCC-VV were chosen and compared with 5 cases each of cutaneous squamous cell carcinoma with bowenoid features (SCC-BD), and cutaneous squamous cell carcinoma with keratoacanthomatous features (SCC-KA)...
February 24, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24569785/a-study-of-alveolar-rhabdomyosarcoma-copy-number-alterations-by-single-nucleotide-polymorphism-analysis
#2
Miriam Lynn, Naisha Shah, Judith Conroy, Sean Ennis, Thomas Morris, David Betts, Maureen O'Sullivan
Rhabdomyosarcoma, the most common pediatric soft tissue malignancy arises in 2 major histologic forms: embryonal and alveolar. Classically, the alveolar subtype is characterized by a chromosomal translocation t(2;13)(q35;q14) or t(1;13)(p36;q14) fusing the PAX3 or PAX7 gene, respectively, to the FOXO1 gene, although fusion-negative cases of alveolar rhabdomyosarcoma (ARMS) occur; these share considerably more with the genomic profiles and biological behavior of embryonal rhabdomyosarcoma than with fusion-positive ARMS...
February 24, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24569784/performance-evaluation-comparison-of-3-commercially-available-pcr-based-kras-mutation-testing-platforms
#3
Julia A Adams, Kristin M Post, Sarah A Bilbo, Xiaoyan Wang, Joyashree D Sen, Anita J Cornwell, Amanda J Malek, Liang Cheng
The identification of KRAS mutations in patients with certain types of cancer, including colonic adenocarcinoma and non-small cell lung carcinoma, has become increasingly important as these patients are contraindicated from receiving epidermal growth factor receptor-targeted therapies. Several polymerase chain reaction (PCR)-based tests are commercially available for KRAS mutation testing including Applied Biosystems KRAS Mutation Analysis on the ABI3130xl, Qiagen therascreen KRAS RGQ PCR on the Rotor-Gene Q MDx, and Qiagen KRAS Pyro on the PyroMark Q24; however, these tests have not been compared side by side...
February 24, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24569783/novel-mutations-in-neuroendocrine-carcinoma-of-the-breast-possible-therapeutic-targets
#4
Daphne Ang, Morgan Ballard, Carol Beadling, Andrea Warrick, Amy Schilling, Rebecca O'Gara, Marina Pukay, Tanaya L Neff, Robert B West, Christopher L Corless, Megan L Troxell
Primary neuroendocrine carcinoma of the breast is a rare variant, accounting for only 2% to 5% of diagnosed breast cancers, and may have relatively aggressive behavior. Mutational profiling of invasive ductal breast cancers has yielded potential targets for directed cancer therapy, yet most studies have not included neuroendocrine carcinomas. In a tissue microarray screen, we found a 2.4% prevalence (9/372) of neuroendocrine breast carcinoma, including several with lobular morphology. We then screened primary or metastatic neuroendocrine breast carcinomas (excluding papillary and mucinous) for mutations in common cancer genes using polymerase chain reaction-mass spectroscopy (643 hotspot mutations across 53 genes), or semiconductor-based next-generation sequencing analysis (37 genes)...
February 24, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24569782/low-frequency-of-egfr-mutations-in-pleural-mesothelioma-patients-cologne-germany
#5
Verena Schildgen, Olga Pabst, Ramona-Liza Tillmann, Jessica Lüsebrink, Oliver Schildgen, Corinna Ludwig, Michael Brockmann, Erich Stoelben
EGFR mutations were previously found in patients suffering from peritoneal mesothelioma but have not yet been described in pleural mesothelioma. The aim of the present study was the identification of EGFR mutations in patients suffering from pleural mesothelioma. Pleural mesothelioma tissue from 31 patients was used to analyze possible mutations in the EGFR gene comprising the exons 18-21 with the codons 719, 768, 790, 858+861, 731+734, 785, 797+801, 831, and 868 with pyrosequencing. The results indicate that 31 pleural mesothelioma patients show a wild-type EGFR gene when analyzing the codons D19, 768, 790, 858+861, 731+734, 785, 797+801, 831, and 868, whereas 2 patients have a mutation in the EGFR gene in codon 719...
February 24, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487317/increase-egfr-mutations-detection-rate-in-lung-adenocarcinoma-by-real-time-pcr-screening-followed-by-direct-sequencing
#6
Tze-Kiong Er, Chin-Wen Lin, Ta-Chih Liu, Chih-Chieh Chen, Li-Hsuan Wang, Li-Ling Hsieh, Wen-Chan Tsai
BACKGROUND: Recently, a number of small-molecule tyrosine kinase inhibitors (TKIs) have been developed to target the ATP-binding cleft of the epidermal growth factor receptor (EGFR). The presence of EGFR mutations in non-small cell lung cancer (NSCLC) correlates with the responsiveness to TKIs. Therefore, the identification of EGFR mutations before the administration of TKIs of NSCLC has become important. The aim of the present study was to investigate the occurrence of EGFR mutations in the southern Taiwanese population with NSCLC using a combination of real-time polymerase chain reaction (PCR) kit and direct sequencing...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487315/detection-of-mdm2-cdk4-amplification-in-lipomatous-soft-tissue-tumors-from-formalin-fixed-paraffin-embedded-tissue-comparison-of-multiplex-ligation-dependent-probe-amplification-mlpa-and-fluorescence-in-situ-hybridization-fish
#7
David Creytens, Joost van Gorp, Liesbeth Ferdinande, Ernst-Jan Speel, Louis Libbrecht
In this study, the detection of MDM2 and CDK4 amplification was evaluated in lipomatous soft tissue tumors using multiplex ligation-dependent probe amplification (MLPA), a PCR-based technique, in comparison with fluorescence in situ hybridization (FISH). These 2 techniques were evaluated in a series of 77 formalin-fixed, paraffin-embedded lipomatous tumors (27 benign adipose tumors, 28 atypical lipomatous tumors/well-differentiated liposarcomas, 18 dedifferentiated liposarcomas, and 4 pleomorphic liposarcomas)...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487312/detection-of-eml4-alk-fusion-gene-in-chinese-non-small-cell-lung-cancer-by-using-a-sensitive-quantitative-real-time-reverse-transcriptase-pcr-technique
#8
Sha Fu, Fang Wang, Qiong Shao, Xu Zhang, Li-Ping Duan, Xiao Zhang, Li Zhang, Jian-Yong Shao
Anaplastic lymphoma kinase (ALK) rearrangement is present in approximately 5% of lung adenocarcinoma. Clinical trials on ALK inhibitor phase I to III have shown an interesting disease control rate and acceptable tolerability in ALK rearrangement patients. In clinical application, the precise diagnostic strategy for identifying ALK rearrangements remains to be determined. In this study, ALK rearrangement was screened by using quantitative real-time reverse transcriptase polymerase chain reaction (qRT-PCR), direct sequencing, 2 fluorescence in situ hybridization (FISH) assays, and immunohistochemistry in 173 lung adenocarcinomas...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487311/detection-of-egfr-tk-domain-activating-mutations-in-nsclc-with-generic-pcr-based-methods
#9
Rajendra B Shahi, Sylvia De Brakeleer, Jacques De Grève, Caroline Geers, Peter In't Veld, Erik Teugels
Somatic mutations in the epidermal growth factor receptor-tyrosine kinase (EGFR-TK) domain of non-small cell lung cancer (NSCLC) influence the responsiveness of these tumors to EGFR-TK inhibitors, indicating their usefulness as a predictive molecular marker. However, for mutation analysis, the amount of clinical material available from NSCLC patients is often very limited, suboptimally preserved, and composed of both normal and tumor cells. As a consequence, the total amount of recovered DNA is frequently very limited, with mutant alleles being often strongly underrepresented, and thus requiring highly sensitive methods for the detection of mutations...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487310/correlation-of-flt3-mutations-with-expression-of-cd7-in-acute-myeloid-leukemia
#10
Junaid Baqai, Domnita Crisan
FLT3 mutations are common in acute myeloid leukemia (AML), particularly in cases with normal karyotype. Internal tandem duplication (ITD) and also point mutations affecting aspartic acid 835 (D835) are reported. A previous study demonstrated aberrant expression of CD7 on blasts in de novo AML cases with FLT3/ITD mutations. Our study goals are to expand the evaluation of this association to a larger group of patients; to evaluate the association of aberrant CD7 expression in AMLs with D835 mutation, not previously done; to evaluate if aberrant CD7 expression may serve as a surrogate marker for predicting FLT3 mutational status; to evaluate if combined FLT3 with NPM1 mutational status has a better correlation with CD7 expression...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487309/analytical-performance-of-a-formalin-fixed-paraffin-embedded-tissue-based-634-probe-prognostic-assay-for-predicting-outcome-of-patients-with-stage-ii-colon-cancer
#11
Victoria Plamadeala, Shuguang Huang, Suzanne M McCreary, Nicholas J Reitze, Amy L Ewing, Michael J Gabrin, Ana E Bennett, Jude M Mulligan, Claire L Wilson, Dakun Wang
A formalin-fixed paraffin-embedded tissue-based prognostic assay to assess the risk for recurrence in stage II colon cancer has recently been clinically validated. This study describes the analytical performance and quality control measures of the assay. The reportable range was determined to be [-1.129, 1.414] in risk score units. The accuracy was evaluated with a split sample comparison within the production lab and between the production lab and a reference lab. The concordance between the replicates within the production lab was 79% (95% confidence interval, 64%-91%)...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24487308/correlation-of-the-rac1-rhoa-pathway-with-ezrin-expression-in-osteosarcoma
#12
Caterina Chiappetta, Martina Leopizzi, Fabiana Censi, Chiara Puggioni, Vincenzo Petrozza, Carlo D Rocca, Claudio Di Cristofano
Osteosarcoma is the most common malignant tumor of the bone. The major cause of death in osteosarcoma is the increase in metastatic potential, and the ezrin expression has been correlated with the metastasis development. Ezrin interacts with RhoGDI by dissociating it from RhoGTPases, which allow GTPases to load with GTP, activate RhoA to increase cell migration, and invasion. RhoGTPases have been found to contribute to pathologic processes including cancer cell migration, invasion, and metastasis and overexpression of either the GTPase itself or some elements of Rho signaling that have been detected in many human tumors, including Rac1 and RhoA...
January 30, 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24326462/clinicopathologic-findings-and-braf-mutation-in-cutaneous-melanoma-in-young-adults
#13
Bruna Estrozi, Juliana Machado, Rubens Rodriguez, Carlos E Bacchi
Cutaneous melanoma in young patients is rare with increasing incidence. It is not clear whether the etiology and clinical outcome are similar to cutaneous melanoma in the elderly. Mutations in BRAF gene in patients with cutaneous melanoma, in general, range in frequency from 20% to 80%; however, the status and clinical significance of BRAF mutations in the young population have not been evaluated. We investigated 132 cases of primary cutaneous melanoma in patients aged between 18 and 30 years with emphasis on clinical characteristics, pathologic features, and molecular evaluation of mutation in the BRAF gene (BRAF)...
January 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24326461/analysis-of-pik3ca-mutations-in-breast-cancer-subtypes
#14
Ruza Arsenic, Annika Lehmann, Jan Budczies, Ines Koch, Judith Prinzler, Anke Kleine-Tebbe, Christiane Schewe, Sibylle Loibl, Manfred Dietel, Carsten Denkert
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA) is a central element of a signaling pathway involved in cell proliferation, survival, and growth. Certain mutations in this pathway result in enhanced PI3K signaling, which is associated with oncogenic cellular transformation and cancer. The aims of this study were to characterize different types of PIK3CA mutations in exons 9 and 20 in a series of primary breast carcinomas and to correlate the results with clinicopathologic parameters and survival...
January 2014: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24247232/diagnostic-molecular-pathology-aimming-higher
#15
EDITORIAL
Mark H Stoler
No abstract text is available yet for this article.
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193010/a-comparison-of-methods-for-egfr-mutation-testing-in-non-small-cell-lung-cancer
#16
MULTICENTER STUDY
Elizabeth C Young, Martina M Owens, Idowu Adebiyi, Tina Bedenham, Rachel Butler, Jonathan Callaway, Treena Cranston, Charlene Crosby, Ian A Cree, Laura Dutton, Catherine Faulkes, Claire Faulkner, Emma Howard, Julia Knight, Yuanxue Huang, Louise Lavender, Lazarus P Lazarou, Hongxiang Liu, Debbie Mair, Antonio Milano, Stacey Sandell, Alison Skinner, Andrew Wallace, Maggie Williams, Vicky Spivey, John Goodall, Jonathan Frampton, Sian Ellard
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.Leu858Arg (p.L858R) missense mutation and c...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193009/egfr-autophosphorylation-but-not-protein-score-correlates-with-histologic-and-molecular-subtypes-in-lung-adenocarcinoma
#17
Judit Moldvay, Tamás Barbai, Krisztina Bogos, Violetta Piurko, János Fillinger, Helmut H Popper, József Tímár
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...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193008/influence-of-parasite-density-and-sample-storage-time-on-the-reliability-of-entamoeba-histolytica-specific-pcr-from-formalin-fixed-and-paraffin-embedded-tissues
#18
COMPARATIVE STUDY
Hagen Frickmann, Klara Tenner-Racz, Petra Eggert, Norbert G Schwarz, Sven Poppert, Egbert Tannich, Ralf M Hagen
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. Specimens had been collected during the previous 4 decades...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193007/a-comparative-study-of-standard-cytogenetic-evaluation-and-molecular-karyotyping-for-products-of-conception
#19
COMPARATIVE STUDY
Leanne Baxter, Nandini Adayapalam
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. A 92% overall success rate was achieved. This method detected a cryptic deletion of a 7q subtelomeric region, a case of 25% mosaic trisomy 14, and 2 unbalanced subtelomeric rearrangements due to familial balanced translocations...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193006/development-and-clinical-validation-of-a-multiplex-real-time-pcr-assay-for-herpes-simplex-and-varicella-zoster-virus
#20
Thean Yen Tan, Hao Zou, Danny Chee Tiong Ong, Khor Jia Ker, Martin Tze Wei Chio, Rachael Yu Lin Teo, Mark Jean Aan Koh
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...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
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