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https://www.readbyqxmd.com/read/29776633/molecular-diagnostics-in-colorectal-carcinoma-advances-and-applications-for-2018
#1
REVIEW
Amarpreet Bhalla, Muhammad Zulfiqar, Martin H Bluth
The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptase polymerase chain reaction assay and KRAS and BRAF mutation analysis...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29758216/molecular-background-of-colorectal-tumors-from-patients-with-lynch-syndrome-associated-with-germline-variants-in-pms2
#2
S W Ten Broeke, T C van Bavel, A M L Jansen, E Gómez-García, F J Hes, L P van Hest, T G W Letteboer, M J W Olderode-Berends, D Ruano, L Spruijt, M Suerink, C M Tops, R van Eijk, H Morreau, T van Wezel, M Nielsen
BACKGROUND & AIMS: Germline variants in the mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk of developing colorectal cancers (CRCs) that differ from sporadic CRCs in genetic and histologic features. It has been a challenge to study CRCs associated with PMS2 variants (PMS2-associated CRCs) because these develop less frequently and in patients of older ages than colorectal tumors with variants in the other mismatch repair genes...
May 11, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29755653/tumornext-lynch-mmr-a-comprehensive-next-generation-sequencing-assay-for-the-detection-of-germline-and-somatic-mutations-in-genes-associated-with-mismatch-repair-deficiency-and-lynch-syndrome
#3
Phillip N Gray, Pei Tsai, Daniel Chen, Sitao Wu, Jayne Hoo, Wenbo Mu, Bing Li, Huy Vuong, Hsiao-Mei Lu, Navanjot Batth, Sara Willett, Lisa Uyeda, Swati Shah, Chia-Ling Gau, Monalyn Umali, Carin Espenschied, Mike Janicek, Sandra Brown, David Margileth, Lavinia Dobrea, Lawrence Wagman, Huma Rana, Michael J Hall, Theodora Ross, Jonathan Terdiman, Carey Cullinane, Savita Ries, Ellen Totten, Aaron M Elliott
The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29750335/universal-screening-of-both-endometrial-and-colon-cancers-increases-the-detection-of-lynch-syndrome
#4
Tomer Adar, Linda H Rodgers, Kristen M Shannon, Makoto Yoshida, Tianle Ma, Anthony Mattia, Gregory Y Lauwers, Anthony J Iafrate, Nicole M Hartford, Esther Oliva, Daniel C Chung
BACKGROUND: Lynch syndrome (LS) is the most common hereditary cause of colorectal cancer (CRC) and endometrial cancer (EC). Screening of all CRCs for LS is currently recommended, but screening of ECs is inconsistent. The objective of this study was to determine the added value of screening both CRC and EC tumors in the same population. METHODS: A prospective, immunohistochemistry (IHC)-based screening program for all patients with newly diagnosed CRCs and ECs was initiated in 2011 and 2013, respectively, at 2 centers (primary and tertiary)...
May 11, 2018: Cancer
https://www.readbyqxmd.com/read/29747443/microsatellite-instability-occurs-rarely-in-patients-with-cholangiocarcinoma-a-retrospective-study-from-a-german-tertiary-care-hospital
#5
Ria Winkelmann, Markus Schneider, Sylvia Hartmann, Andreas A Schnitzbauer, Stefan Zeuzem, Jan Peveling-Oberhag, Martin Leo Hansmann, Dirk Walter
Immune-modulating therapy is a promising therapy for patients with cholangiocarcinoma (CCA). Microsatellite instability (MSI) might be a favorable predictor for treatment response, but comprehensive data on the prevalence of MSI in CCA are missing. The aim of the current study was to determine the prevalence of MSI in a German tertiary care hospital. Formalin-fixed paraffin-embedded tissue samples, obtained in the study period from 2007 to 2015 from patients with CCA undergoing surgical resection with curative intention at Johann Wolfgang Goethe University hospital, were examined...
May 9, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29747023/assessment-of-dna-repair-susceptibility-genes-identified-by-whole-exome-sequencing-in-head-and-neck-cancer
#6
Raima Das, Sharbadeb Kundu, Shaheen Laskar, Yashmin Choudhury, Sankar Kumar Ghosh
Head and neck cancer (HNC), the sixth most common cancer globally, stands second in India. In Northeast (NE) India, it is the sixth most common cause of death in males and seventh in females. Prolonged tobacco and alcohol consumption constitute the major etiological factors for HNC development, which induce DNA damage. Therefore, DNA repair pathway is a crucial system in maintaining genomic integrity and preventing carcinogenesis. The present work was aimed to predict the consequence of significant germline variants of the DNA repair genes in disease predisposition...
April 26, 2018: DNA Repair
https://www.readbyqxmd.com/read/29744602/current-clinical-topics-of-lynch-syndrome
#7
REVIEW
Kohji Tanakaya
Lynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250-1000 in the general population. This autosomal dominant disease is caused by a germline variant in one of the four mismatch repair genes, MSH2, MLH1, MSH6, PMS2, or the EPCAM gene. LS develops at early ages in colorectal cancer (CRC), endometrial cancer, and various other associated tumors. Accurate diagnosis of LS and utilization of various risk-reduction strategies such as surveillance, prophylactic surgery, and chemoprevention could improve clinical outcomes...
May 9, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29728922/uterine-endometrial-carcinoma-with-dna-mismatch-repair-deficiency-magnetic-resonance-imaging-findings-and-clinical-features
#8
Kiyoyuki Minamiguchi, Junko Takahama, Tomoko Uchiyama, Ryosuke Taiji, Natsuhiko Saito, Hiroshi Okada, Nagaaki Marugami, Yasuhito Tanase, Ryuji Kawaguchi, Chiho Ohbayashi, Hiroshi Kobayashi, Toshiko Hirai, Kimihiko Kichikawa
PURPOSE: The purpose of this study was to identify the magnetic resonance imaging (MRI) features of uterine endometrial carcinoma (EC) with DNA mismatch repair (MMR) deficiency. MATERIALS AND METHODS: This was a retrospective study approved by our institutional review board. The study included 118 patients pathologically diagnosed as having EC in our institution from April 2014 to December 2016. Of 118 patients, 8 were excluded because of insufficient data. Immunohistochemical analysis of MMR was performed retrospectively to observe the expressions of MLH1, MSH2, MSH6, and PMS2...
May 4, 2018: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/29725427/mismatch-repair-deficient-status-associates-with-favorable-prognosis-of-eastern-chinese-population-with-sporadic-colorectal-cancer
#9
Qing Gong, Huan-Hu Zhang, Sheng-Bo Sun, Wen-Min Ge, Yue Li, Yong-Cun Zhu, Le-Ping Li
The present study aimed to investigate the expression level of DNA mismatch repair gene (MMR) in in sporadic colorectal cancer (SCRC) in eastern China, and to investigate the association between MMR status and prognosis of patients with SCRC. Patient archives from the Department of Gastrointestinal Surgery of Weihai Municipal Hospital (Weihai, China) were retrospectively collected between January 2011 and January 2012. Of the 221 consecutive patients identified, 192 patients who met the criterion were deemed eligible for inclusion...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29723603/histology-of-colorectal-adenocarcinoma-with-double-somatic-mismatch-repair-mutations-is-indistinguishable-from-those-caused-by-lynch-syndrome
#10
Jessica A Hemminger, Rachel Pearlman, Sigurdis Haraldsdottir, Deborah Knight, Jon Gunnlaugur Jonasson, Colin C Pritchard, Heather Hampel, Wendy L Frankel
Lynch syndrome (LS) is the most common form of hereditary colon cancer (CRC). Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2 (EPCAM), MSH6, and PMS2, followed by a second hit to the remaining allele leads to cancer development. Universal tumor screening for LS is routinely performed on CRC, and screening has identified patients with unexplained MMR deficiency that lack MLH1 methylation and a germline mutation. Tumor sequencing has since identified double somatic (DS) mutations in the MMR gene corresponding with the absent protein in 69% of these patients...
April 30, 2018: Human Pathology
https://www.readbyqxmd.com/read/29718441/prevalence-and-molecular-characteristics-of-dna-mismatch-repair-protein-deficient-sebaceous-neoplasms-and-keratoacanthomas-in-a-japanese-hospital-based-population
#11
Kouki Kuwabara, Okihide Suzuki, Noriyasu Chika, Kensuke Kumamoto, Toshiharu Minabe, Tomoo Fukuda, Eiichi Arai, Jun-Ichi Tamaru, Kiwamu Akagi, Hidetaka Eguchi, Yasushi Okazaki, Hideyuki Ishida
Background: Muir-Torre syndrome (MTS) is currently considered as a clinical variant of Lynch syndrome (LS). The clinical significance of the screening of patients with MTS-associated cutaneous tumors for the identification of LS has not yet been established. In addition, the prevalence and molecular characteristics of mismatch repair (MMR) protein deficiency in such tumors has scarcely been investigated in the Japanese population. Methods: Immunohistochemistry (IHC) for MMR proteins (MLH1, MSH2, MSH6 and PMS2) was performed in formalin-fixed paraffin-embedded sections prepared from 16 sebaceous neoplasms (SNs) resected from 13 patients and 32 keratoacanthomas (KAs) resected from 31 patients at our institution between January 2005 and March 2014...
April 28, 2018: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29717530/the-utility-of-immunohistochemistry-for-mismatch-repair-proteins-on-colorectal-polyps-in-the-familial-cancer-clinic
#12
Eryn Dow, Daniel D Buchanan, Ingrid M Winship
BACKGROUND: Immunohistochemistry for loss of expression of one or more of the mismatch repair proteins is performed on colorectal cancer tissue as a screening test for Lynch syndrome; however, its role in premalignant polyps remains controversial. AIM: To determine the effectiveness of mismatch repair immunohistochemistry performed on premalignant colorectal polyps in identifying Lynch syndrome, focusing on clinical utility and value. METHODS: A retrospective audit was conducted of mismatch repair immunohistochemistry performed on non-malignant polyps in patients who attended the Family Cancer Clinic at the Royal Melbourne Hospital...
May 1, 2018: Internal Medicine Journal
https://www.readbyqxmd.com/read/29710374/peri-tumoural-granulomatous-reaction-in-endometrial-carcinoma-association-with-dna-mismatch-repair-protein-deficiency-particularly-loss-of-pms2-expression
#13
Colin Jr Stewart, Amy Pearn, Nicholas Pachter, Adeline Tan
AIMS: The observation of peri-tumoural granulomatous reactions (PGRs) in two endometrial carcinomas (ECs) with a PMS2-deficient/ MLH1-intact expression pattern led us to investigate whether PGRs in EC were specifically associated with DNA mismatch repair (MMR) protein deficiency, particularly PMS2 loss. METHODS AND RESULTS: Hysterectomy specimens from 22 MMR protein-intact and 54 MMR protein-deficient ECs were reviewed with specific attention to the presence of a PGR and a tumour-associated lymphoid reaction (including tumour-infiltrating lymphocytes (TILs) and stromal lymphoid infiltrates)...
April 30, 2018: Histopathology
https://www.readbyqxmd.com/read/29706640/rna-analysis-of-cancer-predisposing-genes-in-formalin-fixed-paraffin-embedded-tissue-determines-aberrant-splicing
#14
Anne Ml Jansen, Heleen M van der Klift, Marieke Ae Roos, Jaap Dh van Eendenburg, Carli Mj Tops, Juul T Wijnen, Frederik J Hes, Hans Morreau, Tom van Wezel
High-throughput sequencing efforts in molecular tumour diagnostics detect increasing numbers of novel variants, including variants predicted to affect splicing. In silico prediction tools can reliably predict the effect of variant disrupting canonical splice sites; however, experimental validation is required to confirm aberrant splicing. Here, we present RNA analysis performed for 13 canonical splice site variants predicted or known to result in splicing in the cancer predisposition genes MLH1, MSH2, MSH6, APC and BRCA1...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29690800/characterization-of-a-rare-variant-c-2635-2a-g-of-the-msh2-gene-in-a-family-with-lynch-syndrome
#15
Filomena Cariola, Vittoria Disciglio, Anna M Valentini, Claudio Lotesoriere, Candida Fasano, Giovanna Forte, Luciana Russo, Antonio Di Carlo, Floranna Guglielmi, Andrea Manghisi, Ivan Lolli, Maria L Caruso, Cristiano Simone
INTRODUCTION: Lynch syndrome is caused by germline mutations in one of the mismatch repair genes ( MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the identification of predisposing genes allows for accurate risk assessment and tailored screening protocols. CASE DESCRIPTION: Here, we report a family case with three family members manifesting the Lynch syndrome phenotype, all of which harbor the rare variant c...
April 1, 2018: International Journal of Biological Markers
https://www.readbyqxmd.com/read/29672549/tumor-development-in-japanese-patients-with-lynch-syndrome
#16
Chiaki Saita, Tatsuro Yamaguchi, Shin-Ichiro Horiguchi, Rin Yamada, Misato Takao, Takeru Iijima, Rika Wakaume, Tomoyuki Aruga, Taku Tabata, Koichi Koizumi
BACKGROUND: Lynch syndrome (LS) patients have a high risk of developing various tumors. This study aimed to clarify the characteristics of tumors developing in LS patients. METHODS: This is a retrospective review of 55 LS patients treated at Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital. RESULTS: The median age at the diagnosis of the first malignant tumor and first LS-related tumor was 44 (range, 19-65) and 44 (range, 24-66) years, respectively...
2018: PloS One
https://www.readbyqxmd.com/read/29672360/cutaneous-metastasis-of-adenocarcinoma-of-the-ampulla-of-vater
#17
Angel Fernandez-Flores, David S Cassarino
Cutaneous metastases from an adenocarcinoma of the Ampulla of Vater are very rare, with only a few cases previously reported. We present here an additional case in a 57-year-old woman who complained of a painful growth on her frontal scalp that she had noticed 4 months earlier. Her medical history included an ampullary adenocarcinoma, which was diagnosed 4 years ago, excised through a Whipple procedure, and treated using chemotherapy and radiotherapy. The scalp biopsy showed a dermal and epidermotropic well-differentiated glandular neoplasm with abundant neutrophils within the luminae of the tumoral glands...
April 17, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29669169/genetic-testing-for-hereditary-prostate-cancer-current-status-and-limitations
#18
REVIEW
Jun Tu Zhen, Jamil Syed, Kevin Anh Nguyen, Michael S Leapman, Neeraj Agarwal, Karina Brierley, Xavier Llor, Erin Hofstatter, Brian Shuch
A significant proportion of prostate cancer diagnoses may be associated with a strong hereditary component. Men who have multiple single-gene polymorphisms and a family history of prostate cancer have a significantly greater risk of developing prostate cancer. Numerous single-gene alterations have been confirmed to increase the risk of prostate cancer. These include breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively), mutL homolog 1 (MLH1), mutS homologs 2 and 6 (MSH2 and MSH6, respectively), postmeiotic segregation increased 2 (PMS2), homeobox B13 (HOXB13), checkpoint kinase 2 (CHEK2), nibrin (NBN), BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and ataxia telangiectasia mutated (ATM)...
April 18, 2018: Cancer
https://www.readbyqxmd.com/read/29656794/immunohistochemistry-for-mismatch-repair-protein-deficiency-in-endometrioid-endometrial-carcinoma-yields-equivalent-results-when-performed-on-endometrial-biopsy-curettage-or-hysterectomy-specimens
#19
David B Chapel, S Diane Yamada, Matthew Cowan, Ricardo R Lastra
OBJECTIVE: Universal screening of endometrial cancer (EC) for Lynch syndrome (LS) has been increasingly implemented in the past five to ten years. Most pathologists initiate screening with immunohistochemistry (IHC) for mismatch repair proteins (MMRPs), using either pre-surgical samplings (endometrial biopsy or curettage, EMB/C) or hysterectomy specimens. We report a systematic assessment of the equivalence of IHC for LS screening on EMB/C versus hysterectomy specimens. METHODS: We identified 99 patients diagnosed with endometrioid EC and performed IHC for MMRPs MLH1, MSH2, MSH6, and PMS2 on their diagnostic EMB/C and paired hysterectomy specimen...
April 13, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29616133/mismatch-repair-single-nucleotide-polymorphisms-and-thyroid-cancer-susceptibility
#20
Luís S Santos, Susana N Silva, Octávia M Gil, Teresa C Ferreira, Edward Limbert, José Rueff
Thyroid cancer (TC) is the most common endocrine malignancy and its incidence continues to rise worldwide. Ionizing radiation exposure is the best established etiological factor. Heritability is high; however, despite valuable contribution from recent genome-wide association studies, the current understanding of genetic susceptibility to TC remains limited. Several studies suggest that altered function or expression of the DNA mismatch repair (MMR) system may contribute to TC pathogenesis. Therefore, the present study aimed to evaluate the potential role of a panel of MMR single nucleotide polymorphisms (SNPs) on the individual susceptibility to well-differentiated TC (DTC)...
May 2018: Oncology Letters
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