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Wendy L Frankel - One of the best experts on this subject based on the ideXlab platform.
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discordant Mismatch Repair Protein immunoreactivity in lynch syndrome associated neoplasms a recommendation for screening synchronous metachronous neoplasms
American Journal of Clinical Pathology, 2016Co-Authors: Rachel Roth, Sigurdis Haraldsdottir, Heather Hampel, Christina A Arnold, Wendy L FrankelAbstract:Objectives: Lynch syndrome (LS) predisposes individuals to developing synchronous and metachronous LS-associated neoplasms (LSANs). Mismatch Repair Protein (MMRP) immunohistochemistry (IHC) is widely used to identify LS, but its utility in patients with synchronous/metachronous lesions has not been studied. We studied MMRP IHC in patients with LS with more than one LSAN to provide screening recommendations in patients with synchronous/metachronous neoplasms. Methods: All patients with LS diagnosed at The Ohio State University Wexner Medical Center from 2009 through 2014 with more than one LSAN and available tumor tissue for immunostaining were identified. Tumors were stained for MLH1, MSH2, MSH6, and PMS-2 Proteins, and immunoreactivity was scored as intact or lost. Results: Thirteen patients with LS with 29 synchronous and/or metachronous primary LSANs were identified. Neoplasms involved large and small intestine (n = 19), ampulla (n = 1), endometrium (n = 1), and skin (sebaceous neoplasms, n = 8). Nine (69%) of 13 patients showed concordant MMRP results in all tumors, and four (31%) showed discordant MMRP results. Conclusions: LS diagnosis could have been missed in 31% of the study cases if only the LSAN exhibiting intact MMRP expression was screened. Accordingly, our findings support the recommendation to perform LS screening in all primary, synchronous, and metachronous intestinal and endometrial cancers if a previous tumor screened intact.
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Discordant Mismatch Repair Protein Immunoreactivity in Lynch Syndrome-Associated Neoplasms: A Recommendation for Screening Synchronous/Metachronous Neoplasms.
American Journal of Clinical Pathology, 2016Co-Authors: Rachel Roth, Sigurdis Haraldsdottir, Heather Hampel, Christina A Arnold, Wendy L FrankelAbstract:Objectives: Lynch syndrome (LS) predisposes individuals to developing synchronous and metachronous LS-associated neoplasms (LSANs). Mismatch Repair Protein (MMRP) immunohistochemistry (IHC) is widely used to identify LS, but its utility in patients with synchronous/metachronous lesions has not been studied. We studied MMRP IHC in patients with LS with more than one LSAN to provide screening recommendations in patients with synchronous/metachronous neoplasms. Methods: All patients with LS diagnosed at The Ohio State University Wexner Medical Center from 2009 through 2014 with more than one LSAN and available tumor tissue for immunostaining were identified. Tumors were stained for MLH1, MSH2, MSH6, and PMS-2 Proteins, and immunoreactivity was scored as intact or lost. Results: Thirteen patients with LS with 29 synchronous and/or metachronous primary LSANs were identified. Neoplasms involved large and small intestine (n = 19), ampulla (n = 1), endometrium (n = 1), and skin (sebaceous neoplasms, n = 8). Nine (69%) of 13 patients showed concordant MMRP results in all tumors, and four (31%) showed discordant MMRP results. Conclusions: LS diagnosis could have been missed in 31% of the study cases if only the LSAN exhibiting intact MMRP expression was screened. Accordingly, our findings support the recommendation to perform LS screening in all primary, synchronous, and metachronous intestinal and endometrial cancers if a previous tumor screened intact.
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prospective evaluation of dna Mismatch Repair Protein expression in primary endometrial cancer
Gynecologic Oncology, 2009Co-Authors: Floor J Backes, Adrian A Suarez, Heather Hampel, Wendy L Frankel, Marino E Leon, Iouri Ivanov, Jeffrey M Fowler, Larry J Copeland, David M Omalley, David E CohnAbstract:Abstract Objectives Immunohistochemical (IHC) stains for Mismatch Repair (MMR) Proteins help screen for Lynch syndrome and identify microsatellite unstable colorectal carcinomas, providing prognostic information. It has been suggested that colorectal and endometrial carcinomas should be screened routinely for a MMR defect, but data are lacking on the practical application of this policy. We report our experience with the prospective evaluation of MMR Protein expression in endometrial cancer. Methods All cases of primary endometrial cancer at a single institution regardless of age, family history or histologic features were prospectively stained for the MMR Proteins MLH1, MSH2, MSH6 and PMS2. Clinical and pathologic correlates were collected from the medical record. Results A total of 140 endometrial cancer cases were studied. Over 90% of cases were of endometrioid histology. 119 patients had stage I/II disease, and 21 stage III/IV. Nineteen percent of patients were Conclusions Prospective staining for MMR Proteins is feasible and allows for primary triage for the evaluation of Lynch syndrome in women with endometrial cancer. However, acceptance of genetic consultation and testing is surprisingly low and deserves further investigation.
Teri A. Longacre - One of the best experts on this subject based on the ideXlab platform.
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risk of secondary malignancy including breast in patients with Mismatch Repair Protein deficiency
The American Journal of Surgical Pathology, 2014Co-Authors: Michael R Clay, Kimberly H Allison, Ann K Folkins, Teri A. LongacreAbstract:Lynch syndrome (LS) is an autosomal dominant inherited disease that is associated with an increased risk for colorectal and endometrial cancer due to germline mutations in Mismatch-Repair (MMR) genes. Whereas primary tumors in this syndrome are widely recognized, the relative risk(s) of secondary ma
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a two antibody Mismatch Repair Protein immunohistochemistry screening approach for colorectal carcinomas skin sebaceous tumors and gynecologic tract carcinomas
Modern Pathology, 2011Co-Authors: Amirkaveh Mojtahed, Iris Schrijver, James M. Ford, Teri A. LongacreAbstract:A two-antibody Mismatch Repair Protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas
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A two-antibody Mismatch Repair Protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas.
Modern Pathology, 2011Co-Authors: Amirkaveh Mojtahed, Iris Schrijver, James M. Ford, Teri A. LongacreAbstract:Mismatch Repair Protein immunohistochemistry is a widely used method for detecting patients at risk for Lynch syndrome. Recent data suggest that a two-antibody panel approach using PMS2 and MSH6 is an effective screening protocol for colorectal carcinoma, but there are limited data concerning this approach for extraintestinal tumors. The purpose of this study was to review the utility of a two-antibody panel approach in colorectal carcinoma and extraintestinal tumors. We evaluated Mismatch Repair Protein expression in two cohorts: (1) a retrospective analysis of intestinal and extraintestinal tumors (n=334) tested for Mismatch Repair Protein immunohistochemistry and (2) a prospectively accrued series of intestinal, gynecologic tract, and skin sebaceous neoplasms (n=98). A total of 432 cases were analyzed, including 323 colorectal, 50 gynecologic tract, 49 skin sebaceous, and 10 other neoplasms. Overall, 102/432 tumors (24%) demonstrated loss of at least one Mismatch Repair Protein. Concurrent loss of MLH1 and PMS2 was the most common pattern of abnormal expression (50/432, 12%) followed by concurrent loss of MSH2 and MSH6 (33/432, 8%). Of 55 cases with abnormal PMS2 expression, 5 (9%) demonstrated isolated loss of PMS2 expression. Of 47 cases with abnormal MSH6 expression, 14 (30%) demonstrated isolated loss of MSH6 expression. Isolated loss of MLH1 or MSH2 was not observed. Colorectal carcinomas more frequently demonstrated abnormal expression of PMS2 (39/59, 66%). Skin sebaceous neoplasms more frequently demonstrated abnormal expression of MSH6 (18/24, 75%, respectively). A total of 65 tumors with abnormal Mismatch Repair Protein expression were tested for microsatellite instability (MSI): 47 (72%) MSI high, 9 (14%) MSI low, and 9 (14%) microsatellite stable (MSS). Abnormal MSH6 expression accounted for 14/18 (78%) cases that were MSS or MSI low. Our findings confirm the utility of a two-antibody approach using PMS2 and MSH6 in colorectal carcinoma and indicate that this approach is effective in extraintestinal neoplasms associated with Lynch syndrome.
Dongsi Lu - One of the best experts on this subject based on the ideXlab platform.
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sebaceous neoplasms with Mismatch Repair Protein expressions and the frequency of co existing visceral tumors
Journal of The American Academy of Dermatology, 2012Co-Authors: Limin Yu, Anne C Lind, Dongsi LuAbstract:Background Visceral malignancy has been associated with sebaceous neoplasms in patients with Muir-Torre syndrome. However, no large studies have been done to evaluate the frequency of visceral tumors in patients with sebaceous neoplasms and Mismatch Repair (MMR) Protein expression of the sebaceous tumors. Objective We sought to determine the frequency of visceral tumors in patients with sebaceous neoplasms, MMR Protein expression of the sebaceous tumors, and the related surveillance practices of physicians. Methods We identified 85 patients with sebaceous neoplasms. Relevant clinical information was obtained via chart review and database searches. MMR Protein expression was examined by immunohistochemistry. Results Nineteen of the 85 patients had a total of 22 visceral malignancies, of which 41% were genitourinary in origin. Ten of the 17 patients (59%) with visceral malignancy had loss of MMR expression in their sebaceous neoplasms or somatic MMR mutation. Thirty patients had other findings such as colonic adenomas and polyps. Of the 23 patients who had a family history of visceral malignancy, 9 had a personal history of visceral malignancy. Limitations Only one sebaceous tumor from each patient (except one) was tested for MMR, which might reduce the sensitivity. Conclusion Our findings demonstrate an increased frequency of internal malignancy in patients with sebaceous neoplasms compared with the general population, and highlight the heterogeneous nature of the visceral tumors. A majority of the sebaceous tumors show loss of MMR expression. The study reminds us to strive toward a consistent and comprehensive approach to screening for internal malignancy when a patient is given a diagnosis of a sebaceous neoplasm.
Heather Hampel - One of the best experts on this subject based on the ideXlab platform.
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discordant Mismatch Repair Protein immunoreactivity in lynch syndrome associated neoplasms a recommendation for screening synchronous metachronous neoplasms
American Journal of Clinical Pathology, 2016Co-Authors: Rachel Roth, Sigurdis Haraldsdottir, Heather Hampel, Christina A Arnold, Wendy L FrankelAbstract:Objectives: Lynch syndrome (LS) predisposes individuals to developing synchronous and metachronous LS-associated neoplasms (LSANs). Mismatch Repair Protein (MMRP) immunohistochemistry (IHC) is widely used to identify LS, but its utility in patients with synchronous/metachronous lesions has not been studied. We studied MMRP IHC in patients with LS with more than one LSAN to provide screening recommendations in patients with synchronous/metachronous neoplasms. Methods: All patients with LS diagnosed at The Ohio State University Wexner Medical Center from 2009 through 2014 with more than one LSAN and available tumor tissue for immunostaining were identified. Tumors were stained for MLH1, MSH2, MSH6, and PMS-2 Proteins, and immunoreactivity was scored as intact or lost. Results: Thirteen patients with LS with 29 synchronous and/or metachronous primary LSANs were identified. Neoplasms involved large and small intestine (n = 19), ampulla (n = 1), endometrium (n = 1), and skin (sebaceous neoplasms, n = 8). Nine (69%) of 13 patients showed concordant MMRP results in all tumors, and four (31%) showed discordant MMRP results. Conclusions: LS diagnosis could have been missed in 31% of the study cases if only the LSAN exhibiting intact MMRP expression was screened. Accordingly, our findings support the recommendation to perform LS screening in all primary, synchronous, and metachronous intestinal and endometrial cancers if a previous tumor screened intact.
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Discordant Mismatch Repair Protein Immunoreactivity in Lynch Syndrome-Associated Neoplasms: A Recommendation for Screening Synchronous/Metachronous Neoplasms.
American Journal of Clinical Pathology, 2016Co-Authors: Rachel Roth, Sigurdis Haraldsdottir, Heather Hampel, Christina A Arnold, Wendy L FrankelAbstract:Objectives: Lynch syndrome (LS) predisposes individuals to developing synchronous and metachronous LS-associated neoplasms (LSANs). Mismatch Repair Protein (MMRP) immunohistochemistry (IHC) is widely used to identify LS, but its utility in patients with synchronous/metachronous lesions has not been studied. We studied MMRP IHC in patients with LS with more than one LSAN to provide screening recommendations in patients with synchronous/metachronous neoplasms. Methods: All patients with LS diagnosed at The Ohio State University Wexner Medical Center from 2009 through 2014 with more than one LSAN and available tumor tissue for immunostaining were identified. Tumors were stained for MLH1, MSH2, MSH6, and PMS-2 Proteins, and immunoreactivity was scored as intact or lost. Results: Thirteen patients with LS with 29 synchronous and/or metachronous primary LSANs were identified. Neoplasms involved large and small intestine (n = 19), ampulla (n = 1), endometrium (n = 1), and skin (sebaceous neoplasms, n = 8). Nine (69%) of 13 patients showed concordant MMRP results in all tumors, and four (31%) showed discordant MMRP results. Conclusions: LS diagnosis could have been missed in 31% of the study cases if only the LSAN exhibiting intact MMRP expression was screened. Accordingly, our findings support the recommendation to perform LS screening in all primary, synchronous, and metachronous intestinal and endometrial cancers if a previous tumor screened intact.
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prospective evaluation of dna Mismatch Repair Protein expression in primary endometrial cancer
Gynecologic Oncology, 2009Co-Authors: Floor J Backes, Adrian A Suarez, Heather Hampel, Wendy L Frankel, Marino E Leon, Iouri Ivanov, Jeffrey M Fowler, Larry J Copeland, David M Omalley, David E CohnAbstract:Abstract Objectives Immunohistochemical (IHC) stains for Mismatch Repair (MMR) Proteins help screen for Lynch syndrome and identify microsatellite unstable colorectal carcinomas, providing prognostic information. It has been suggested that colorectal and endometrial carcinomas should be screened routinely for a MMR defect, but data are lacking on the practical application of this policy. We report our experience with the prospective evaluation of MMR Protein expression in endometrial cancer. Methods All cases of primary endometrial cancer at a single institution regardless of age, family history or histologic features were prospectively stained for the MMR Proteins MLH1, MSH2, MSH6 and PMS2. Clinical and pathologic correlates were collected from the medical record. Results A total of 140 endometrial cancer cases were studied. Over 90% of cases were of endometrioid histology. 119 patients had stage I/II disease, and 21 stage III/IV. Nineteen percent of patients were Conclusions Prospective staining for MMR Proteins is feasible and allows for primary triage for the evaluation of Lynch syndrome in women with endometrial cancer. However, acceptance of genetic consultation and testing is surprisingly low and deserves further investigation.
Rachel Roth - One of the best experts on this subject based on the ideXlab platform.
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discordant Mismatch Repair Protein immunoreactivity in lynch syndrome associated neoplasms a recommendation for screening synchronous metachronous neoplasms
American Journal of Clinical Pathology, 2016Co-Authors: Rachel Roth, Sigurdis Haraldsdottir, Heather Hampel, Christina A Arnold, Wendy L FrankelAbstract:Objectives: Lynch syndrome (LS) predisposes individuals to developing synchronous and metachronous LS-associated neoplasms (LSANs). Mismatch Repair Protein (MMRP) immunohistochemistry (IHC) is widely used to identify LS, but its utility in patients with synchronous/metachronous lesions has not been studied. We studied MMRP IHC in patients with LS with more than one LSAN to provide screening recommendations in patients with synchronous/metachronous neoplasms. Methods: All patients with LS diagnosed at The Ohio State University Wexner Medical Center from 2009 through 2014 with more than one LSAN and available tumor tissue for immunostaining were identified. Tumors were stained for MLH1, MSH2, MSH6, and PMS-2 Proteins, and immunoreactivity was scored as intact or lost. Results: Thirteen patients with LS with 29 synchronous and/or metachronous primary LSANs were identified. Neoplasms involved large and small intestine (n = 19), ampulla (n = 1), endometrium (n = 1), and skin (sebaceous neoplasms, n = 8). Nine (69%) of 13 patients showed concordant MMRP results in all tumors, and four (31%) showed discordant MMRP results. Conclusions: LS diagnosis could have been missed in 31% of the study cases if only the LSAN exhibiting intact MMRP expression was screened. Accordingly, our findings support the recommendation to perform LS screening in all primary, synchronous, and metachronous intestinal and endometrial cancers if a previous tumor screened intact.
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Discordant Mismatch Repair Protein Immunoreactivity in Lynch Syndrome-Associated Neoplasms: A Recommendation for Screening Synchronous/Metachronous Neoplasms.
American Journal of Clinical Pathology, 2016Co-Authors: Rachel Roth, Sigurdis Haraldsdottir, Heather Hampel, Christina A Arnold, Wendy L FrankelAbstract:Objectives: Lynch syndrome (LS) predisposes individuals to developing synchronous and metachronous LS-associated neoplasms (LSANs). Mismatch Repair Protein (MMRP) immunohistochemistry (IHC) is widely used to identify LS, but its utility in patients with synchronous/metachronous lesions has not been studied. We studied MMRP IHC in patients with LS with more than one LSAN to provide screening recommendations in patients with synchronous/metachronous neoplasms. Methods: All patients with LS diagnosed at The Ohio State University Wexner Medical Center from 2009 through 2014 with more than one LSAN and available tumor tissue for immunostaining were identified. Tumors were stained for MLH1, MSH2, MSH6, and PMS-2 Proteins, and immunoreactivity was scored as intact or lost. Results: Thirteen patients with LS with 29 synchronous and/or metachronous primary LSANs were identified. Neoplasms involved large and small intestine (n = 19), ampulla (n = 1), endometrium (n = 1), and skin (sebaceous neoplasms, n = 8). Nine (69%) of 13 patients showed concordant MMRP results in all tumors, and four (31%) showed discordant MMRP results. Conclusions: LS diagnosis could have been missed in 31% of the study cases if only the LSAN exhibiting intact MMRP expression was screened. Accordingly, our findings support the recommendation to perform LS screening in all primary, synchronous, and metachronous intestinal and endometrial cancers if a previous tumor screened intact.