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

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https://www.readbyqxmd.com/read/24326462/clinicopathologic-findings-and-braf-mutation-in-cutaneous-melanoma-in-young-adults
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/24193005/methylation-profile-analysis-of-dna-repair-genes-in-hepatocellular-carcinoma-with-ms-mlpa
#9
Ozge Ozer, Banu Bilezikci, Sema Aktas, Feride I Sahin
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...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193004/an-analytical-method-for-the-quantification-of-herg1-channel-gene-expression-in-human-colorectal-cancer
#10
Angelo Fortunato, Luca Gasparoli, Sara Falsini, Luca Boni, Boni Luca, Annarosa Arcangeli
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...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193003/pyrosequencing-for-egfr-mutation-detection-diagnostic-accuracy-and-clinical-implications
#11
COMPARATIVE STUDY
Nora Sahnane, Rossana Gueli, Maria G Tibiletti, Barbara Bernasconi, Michele Stefanoli, Francesca Franzi, Graziella Pinotti, Carlo Capella, Daniela Furlan
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...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/24193002/frequent-pik3ca-mutations-in-radial-scars
#12
Katie L Wolters, Daphne Ang, Andrea Warrick, Carol Beadling, Christopher L Corless, Megan L Troxell
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. Sixteen surgical cases containing 22 radial scars were identified from pathology archives...
December 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846446/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
#13
Trine Tramm, Brita S Sørensen, Jens Overgaard, Jan Alsner
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...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846445/a-predictive-factor-of-the-quality-of-microarray-comparative-genomic-hybridization-analysis-for-formalin-fixed-paraffin-embedded-archival-tissue
#14
Kenjiro Nakao, Masahiro Oikawa, Junichi Arai, Zhanna Mussazhanova, Hisayoshi Kondo, Kazuko Shichijo, Masahiro Nakashima, Tomayoshi Hayashi, Koh-Ichiro Yoshiura, Toshiko Hatachi, Takeshi Nagayasu
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...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846444/the-effect-of-aging-of-formalin-fixed-paraffin-embedded-tissues-on-the-in-situ-hybridization-and-immunohistochemistry-signals-in-cervical-lesions
#15
Allison J Nuovo, Michela Garofalo, Alexandria Mikhail, Alcina F Nicol, Cecilia Vianna-Andrade, Gerard J Nuovo
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%)...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846443/detailed-molecular-genetics-of-the-apc-e1317q-mutation-in-tumor-tissue-suggest-it-may-not-be-pathologically-significant
#16
Peter Zauber, Stephen P Marotta, Marlene Sabbath-Solitare
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. For 1 patient, we show linkage to a specific APC allele. We further show that loss of heterozygosity of the APC gene in tumors from carriers of the APC*E1317Q mutation may involve the mutated allele, not just the wild-type allele, suggesting the APC*E1317Q missense mutation may not be pathologically significant in the development of colorectal tumors...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846442/flt3-mutations-in-myeloproliferative-neoplasms-the-beaumont-experience
#17
Lindsay Williams, Harlan H Kelley, Xiuling Meng, Anne Prada, Domnita Crisan
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. The goal of our study is to evaluate the mutational status of the FLT3 gene in patients with an MPN or MDS/MPN, in correlation with the JAK2 mutational status...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846441/tandem-duplication-pcr-an-ultrasensitive-assay-for-the-detection-of-internal-tandem-duplications-of-the-flt3-gene
#18
Ming-Tseh Lin, Li-Hui Tseng, Katie Beierl, Antony Hsieh, Michele Thiess, Nadine Chase, Amanda Stafford, Mark J Levis, James R Eshleman, Christopher D Gocke
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 0.1% ITD-positive leukemia cells and showed that minor mutants with an allele burden of <1% can be clinically significant. In this study, we report on tandem duplication PCR (TD-PCR), a modified inverse PCR assay, and demonstrate a limit of detection of a few molecules of ITD mutants...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846440/evaluation-of-a-beadxpress-assay-for-a-151-mutation-and-variant-cftr-screening-panel-after-11-000-samples-implications-for-practice
#19
Jay Stoerker, Thomas G Goodman, Heather M Walline, Jeffrey Sugalski, Carol A Holland
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. The validation proved the test to be 100% sensitive for the mutations tested and >99% specific. A total of 391 mutations in 11,186 samples tested were confirmed by repeat analysis and sequencing, resulting in an overall confirmed positive rate of 3...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
https://www.readbyqxmd.com/read/23846439/evaluation-of-2-real-time-pcr-assays-for-in-vitro-diagnostic-use-in-the-rapid-and-multiplex-detection-of-egfr-gene-mutations-in-nsclc
#20
COMPARATIVE STUDY
Anthony T C Wong, Rene M Y To, Chris L P Wong, Wai-Kong Chan, Edmond S K Ma
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...
September 2013: Diagnostic Molecular Pathology: the American Journal of Surgical Pathology, Part B
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