Diagnostic Molecular Pathology最新文献

{"title":"Diagnostic molecular pathology: AIMMing higher.","authors":"Mark H Stoler","doi":"10.1097/PDM.0000000000000040","DOIUrl":"https://doi.org/10.1097/PDM.0000000000000040","url":null,"abstract":"A lmost a quarter century ago (can it truly be that long?), Diagnostic Molecular Pathology (DMP) was created as the first forum for papers in diagnostic anatomic pathology that emphasized the use of molecular methods to enhance patient diagnosis and clinical management. I have had the privilege of serving as the Editorin-Chief of DMP for 14 of its 22 volumes. Over the last 15 years, but most especially in the last 5, the use of molecular methods in diagnostic anatomic pathology has witnessed remarkable growth and development. Today, molecular pathology laboratories are an integral part of most academic and many general practice departments. Coupled with the data derived from the human genome project and dramatic improvements in technology, the study of disease by means of molecular methods and the application of this knowledge for clinical diagnosis and prognostication are reshaping both biomedical research and general medical practice. This biomedical revolution is the field of molecular anatomic pathology and no one method dominates. Rather, all of the modern tools at the disposal of the pathologists, including tissue-based DNA and RNA extraction and amplification methods as well as morphology-based methods such as immunohistochemistry and in situ hybridization, routinely enhance the precision of our diagnostics and guide the selection of therapies for patient management. This dynamic evolution of molecular pathology continues to drive competition for the top-quality papers in our field. Indeed, molecular pathology topics are now the mainstream subject matter of virtually all pathology journals. Furthermore, the complementary nature of immunohistochemical and molecular methods in anatomic pathology diagnostics causes one to realize that emphasizing one class of methods to the potential exclusion of the other is no longer a good reflection of clinical practice. Thus, the time seems right to evolve and grow with the times to continue to bring our readers the very best and most relevant publications. How to do this was a bit complex and carefully considered. The strategy was to broaden the scope of articles and methods while also improving quality and importantly the frequency of publication to compete with journals publishing monthly in order to address the impact factor concerns of many of our authors. Working together with our publisher, the best overall solution became crystal clear. By merging the content of DMP with that of our sister journal, Applied Immunohistochemistry and Molecular Morphology (AIMM), the above goals could be achieved and expanded. The volume of manuscripts from both Journals will allow both expanded content and increased publication frequency while driving competitive quality and impact. Several months of behind-the-scenes work by the Publisher along with Dr Clive Taylor, the long-time Editor of AIMM and the Editor-in-Chief of the new improved AIMM, promises to provide the field with an outstanding platform for publicati","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 4","pages":"189"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0000000000000040","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31877675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comparison of methods for EGFR mutation testing in non-small cell lung cancer.","authors":"Elizabeth C Young,&nbsp;Martina M Owens,&nbsp;Idowu Adebiyi,&nbsp;Tina Bedenham,&nbsp;Rachel Butler,&nbsp;Jonathan Callaway,&nbsp;Treena Cranston,&nbsp;Charlene Crosby,&nbsp;Ian A Cree,&nbsp;Laura Dutton,&nbsp;Catherine Faulkes,&nbsp;Claire Faulkner,&nbsp;Emma Howard,&nbsp;Julia Knight,&nbsp;Yuanxue Huang,&nbsp;Louise Lavender,&nbsp;Lazarus P Lazarou,&nbsp;Hongxiang Liu,&nbsp;Debbie Mair,&nbsp;Antonio Milano,&nbsp;Stacey Sandell,&nbsp;Alison Skinner,&nbsp;Andrew Wallace,&nbsp;Maggie Williams,&nbsp;Vicky Spivey,&nbsp;John Goodall,&nbsp;Jonathan Frampton,&nbsp;Sian Ellard","doi":"10.1097/PDM.0b013e318294936c","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318294936c","url":null,"abstract":"<p><p>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.2235_2249del exon 19 deletion. The p.L858R mutation and deletions within exon 19 of the EGFR gene account for ∼90% of mutation-positive cases. The 11 laboratories used their standard testing method(s) and submitted 15 sets of results for the p.L858R samples and 10 for the exon 19 deletion. The p.Leu858Arg (p.L858R) mutation was detected at levels between 1% and 7.5% by Sanger sequencing, pyrosequencing, real-time polymerase chain reaction (PCR), amplification refractory mutation system, and capillary electrophoresis single-strand conformation analysis. The c.2235_2249del mutation was detected at 1% to 5% by fragment size analysis, Sanger sequencing or real-time PCR. A mutation was detected in 24/25 (96%) of the samples tested which contained 5% mutated DNA. The 1% sensitivity claimed for commercial real-time PCR-targeted EGFR tests was achieved and our results show greater sensitivity for the Sanger sequencing and pyrosequencing screening methods compared to the 10% to 20% detection levels cited on clinical diagnostic reports. We conclude that multiple methodologies are suitable for the detection of acquired EGFR mutations. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 4","pages":"190-5"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318294936c","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31835222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequent PIK3CA mutations in radial scars.","authors":"Katie L Wolters,&nbsp;Daphne Ang,&nbsp;Andrea Warrick,&nbsp;Carol Beadling,&nbsp;Christopher L Corless,&nbsp;Megan L Troxell","doi":"10.1097/PDM.0b013e318288b346","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318288b346","url":null,"abstract":"<p><p>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. Lesional tissue was macrodissected from unstained paraffin sections; genomic DNA was then extracted and screened for a panel of known hotspot mutations using polymerase chain reaction and mass spectroscopy analysis. Of the 22 radial scars, 14 (63.6%) had PIK3CA mutations (10 with H1047R mutations, 2 G1049R mutations, 1 E542K, 1 E545K). The remaining 8 lesions were wild type for all of the screened genes. Of the radial scars without epithelial atypia, 9/16 (56.3%) had PIK3CA mutations; furthermore, 5/6 (83.3%) radial scars with atypia had mutations detected. In this study, the frequency of PIK3CA mutations was notably higher than the 25% to 30% mutation frequency of invasive breast cancer. This finding raises interesting questions as to the role of PIK3CA mutations in breast cancer development. Additional larger studies are indicated to confirm and extend these observations in understanding the pathogenesis of radial scars and their relationship to breast cancer. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 4","pages":"210-4"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318288b346","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31834411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Diagnostics in Dermatology and Dermatopathology","authors":"Katherine Boyd, S. Shea","doi":"10.1097/PDM.0b013e318284df66","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318284df66","url":null,"abstract":"","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"31 10 1","pages":"188"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82749199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of 2 real-time PCR assays for in vitro diagnostic use in the rapid and multiplex detection of EGFR gene mutations in NSCLC.","authors":"Anthony T C Wong,&nbsp;Rene M Y To,&nbsp;Chris L P Wong,&nbsp;Wai-Kong Chan,&nbsp;Edmond S K Ma","doi":"10.1097/PDM.0b013e31827fedcc","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31827fedcc","url":null,"abstract":"<p><p>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. The overall concordance rate between cobas and therascreen assays with Sanger sequencing was 89% and 88%, respectively, and increased to 96% and 98%, respectively, if the mutations not covered were excluded. The cobas assay showed a superior coverage of exon 20 mutations, but L861Q was not targeted. The nature of specimen, DNA integrity, and tumor cell content are factors that affect the assay performance. DNA extracted from cell block and clot of pleural fluid gave rise to 1 invalid call and 1 false-negative result by the cobas assay and 1 missed T790M mutation and 1 false-negative result by the therascreen assay. Both assays are around 5 times more expensive compared with Sanger sequencing in terms of reagent cost. We conclude that both assays prove to be a rapid, simple, and validated method in detecting the most common and clinically significant EGFR gene mutations in non-small cell lung cancer. Although less convenient compared with real-time PCR assays, Sanger sequencing is cheaper in terms of reagent cost and allows the detection of rare or novel EGFR gene mutations. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 3","pages":"138-43"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31827fedcc","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31573531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A predictive factor of the quality of microarray comparative genomic hybridization analysis for formalin-fixed paraffin-embedded archival tissue.","authors":"Kenjiro Nakao,&nbsp;Masahiro Oikawa,&nbsp;Junichi Arai,&nbsp;Zhanna Mussazhanova,&nbsp;Hisayoshi Kondo,&nbsp;Kazuko Shichijo,&nbsp;Masahiro Nakashima,&nbsp;Tomayoshi Hayashi,&nbsp;Koh-Ichiro Yoshiura,&nbsp;Toshiko Hatachi,&nbsp;Takeshi Nagayasu","doi":"10.1097/PDM.0b013e31828191de","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31828191de","url":null,"abstract":"<p><p>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. Tumor DNA from matched frozen samples and from FFPE samples after whole-genome amplification were also analyzed in 2 and 4 case, respectively. The derivative log ratio spread (DLRSpread) was used to assess the overall quality of each aCGH result. The DLRSpread correlated significantly with the double-stranded DNA ratio of tumor DNA, storage time, and the degree of labeling with Cy5 (P<0.0001; correlation coefficients=-0.796, 0.551, -0.481, respectively). Stepwise multiple linear regression analysis revealed that the double-stranded DNA ratio of tumor DNA is the most significant predictive factor of DLRSpread (regression coefficient=-0.4798; P=<0.0001). The cytogenetic profiles of FFPE and matched frozen samples showed good concordance. Although the double-stranded DNA ratios were increased after whole-genome amplification, the DLRSpread was not improved. The double-stranded DNA ratio can be used to predict the performance of aCGH analysis for DNA from FFPE samples. Using this quality metric, valuable FFPE archival tissue samples can be utilized for aCGH analysis. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 3","pages":"174-80"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31828191de","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31574554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FLT3 mutations in myeloproliferative neoplasms: the Beaumont experience.","authors":"Lindsay Williams,&nbsp;Harlan H Kelley,&nbsp;Xiuling Meng,&nbsp;Anne Prada,&nbsp;Domnita Crisan","doi":"10.1097/PDM.0b013e31828564fe","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31828564fe","url":null,"abstract":"<p><p>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. Patient specimens were retrospectively identified on the basis of MPN or MDS/MPN diagnosis and JAK2 analysis from February 2006 to December 2011. FLT3 mutation analysis was performed on DNA extracted from 152 patients using polymerase chain reaction amplification and analysis of amplicons by gel electrophoresis for internal tandem duplication mutations and by restriction endonuclease digestion fragment analysis for the D835 point mutation. FLT3 mutation analysis was performed on 90 cases of JAK2-negative MPN or MDS/MPN and 62 cases of JAK2-positive MPN. One FLT3 internal tandem duplication mutation was identified in the JAK2-negative group (1.1%), and none were identified in the JAK2-positive group, confirming the absence of FLT3 mutations in JAK2-positive specimens. The FLT3-positive MPN patient was diagnosed with MPN, unclassifiable, and was later found to have myeloid sarcoma; thus, FLT3 mutation was not seen in the usual types of MPN in our series. Our result of 1.1% FLT3 mutations in JAK2-negative MPN and MDS/MPN cases is lower than the 9.2% previously reported. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 3","pages":"156-60"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31828564fe","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31574551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tandem duplication PCR: an ultrasensitive assay for the detection of internal tandem duplications of the FLT3 gene.","authors":"Ming-Tseh Lin,&nbsp;Li-Hui Tseng,&nbsp;Katie Beierl,&nbsp;Antony Hsieh,&nbsp;Michele Thiess,&nbsp;Nadine Chase,&nbsp;Amanda Stafford,&nbsp;Mark J Levis,&nbsp;James R Eshleman,&nbsp;Christopher D Gocke","doi":"10.1097/PDM.0b013e31828308a1","DOIUrl":"https://doi.org/10.1097/PDM.0b013e31828308a1","url":null,"abstract":"<p><p>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. The TD-PCR was initially designed to confirm ITD mutation of an amplicon, which was undetectable by capillary electrophoresis and was incidentally isolated by a molecular fraction collecting tool. Subsequently, TD-PCR detected ITD mutation in 2 of 77 patients previously reported as negative for ITD mutation by a standard PCR assay. TD-PCR can also potentially be applied to monitor minimal residual disease with high analytic sensitivity in a portion of ITD-positive acute myeloid leukemia patients. Further studies using TD-PCR to detect ITD mutants at diagnosis may clarify the clinical significance of those ITD mutants with extremely low allele burden. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 3","pages":"149-55"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e31828308a1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31574550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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.","authors":"Trine Tramm,&nbsp;Brita S Sørensen,&nbsp;Jens Overgaard,&nbsp;Jan Alsner","doi":"10.1097/PDM.0b013e318285651e","DOIUrl":"https://doi.org/10.1097/PDM.0b013e318285651e","url":null,"abstract":"<p><p>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. The aim of this study was to select robust reference genes showing stable expression over time in FFPE, controlling for various content of tumor tissue and decay of mRNA because of variable length of storage of the tissue. Sixteen reference genes were quantified by qRT-PCR in 40 FFPE breast tumor samples, stored for 1 to 29 years. Samples included 2 benign lesions and 38 carcinomas with varying tumor content. Stability of the reference genes were determined by the geNorm algorithm. mRNA was successfully extracted from all samples, and the 16 genes quantified in the majority of samples. Results showed 14% loss of amplifiable mRNA per year, corresponding to a half-life of 4.6 years. The 4 most stable expressed genes were CALM2, RPL37A, ACTB, and RPLP0. Several of the other examined genes showed considerably instability over time (GAPDH, PSMC4, OAZ1, IPO8). In conclusion, we identified 4 genes robustly expressed over time and independent of neoplastic tissue content in the FFPE block. Other widely used reference genes were concluded to be less suited for retrospective analysis of FFPE breast samples. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 3","pages":"181-7"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e318285651e","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31574555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant.","authors":"Peter Zauber,&nbsp;Stephen P Marotta,&nbsp;Marlene Sabbath-Solitare","doi":"10.1097/PDM.0b013e3182830889","DOIUrl":"https://doi.org/10.1097/PDM.0b013e3182830889","url":null,"abstract":"<p><p>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. </p>","PeriodicalId":11235,"journal":{"name":"Diagnostic Molecular Pathology","volume":"22 3","pages":"161-3"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/PDM.0b013e3182830889","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31574552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}