Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population
Abstract Background The prevalence of Lynch syndrome and the use of universal tumor screening to identify Lynch syndrome among unselected patients with upper urinary tract urothelial carcinoma, which is associated with Lynch syndrome, have not been closely investigated yet. Methods A total of 166 tu...
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| Veröffentlicht in: | Japanese journal of clinical oncology 2020-01, Vol.50 (1), p.80-88 |
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| creator | Ito, Tetsuya Kono, Koji Eguchi, Hidetaka Okazaki, Yasushi Yamamoto, Gou Tachikawa, Tetsuhiko Akagi, Kiwamu Okada, Yohei Kawakami, Satoru Morozumi, Makoto Tamaru, Jun-ichi Ishida, Hideyuki |
| description | Abstract
Background
The prevalence of Lynch syndrome and the use of universal tumor screening to identify Lynch syndrome among unselected patients with upper urinary tract urothelial carcinoma, which is associated with Lynch syndrome, have not been closely investigated yet.
Methods
A total of 166 tumors from 164 upper urinary tract urothelial carcinoma patients were tested for microsatellite instability and expression of mismatch repair proteins (MLH1, MHS2, MSH6 and PMS2) by immunohistochemistry. Genetic testing was performed for patients suspected of having Lynch syndrome. Clinicopathological factors, including familial and personal cancer history associated with mismatch repair deficiency, were evaluated.
Results
The frequency of high-level microsatellite instability and loss of at least one mismatch repair protein was 2.4% (4/164); the microsatellite instability and immunohistochemistry results showed complete concordance. Of these four patients, three were genetically proven to have Lynch syndrome, while the remaining one was highly suggestive for Lynch syndrome based on their personal cancer history. Univariate analysis showed that age |
| doi_str_mv | 10.1093/jjco/hyz140 |
| format | Article |
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Background
The prevalence of Lynch syndrome and the use of universal tumor screening to identify Lynch syndrome among unselected patients with upper urinary tract urothelial carcinoma, which is associated with Lynch syndrome, have not been closely investigated yet.
Methods
A total of 166 tumors from 164 upper urinary tract urothelial carcinoma patients were tested for microsatellite instability and expression of mismatch repair proteins (MLH1, MHS2, MSH6 and PMS2) by immunohistochemistry. Genetic testing was performed for patients suspected of having Lynch syndrome. Clinicopathological factors, including familial and personal cancer history associated with mismatch repair deficiency, were evaluated.
Results
The frequency of high-level microsatellite instability and loss of at least one mismatch repair protein was 2.4% (4/164); the microsatellite instability and immunohistochemistry results showed complete concordance. Of these four patients, three were genetically proven to have Lynch syndrome, while the remaining one was highly suggestive for Lynch syndrome based on their personal cancer history. Univariate analysis showed that age<70 years (P = 0.04), ureter as the tumor location (P = 0.052), previous history/synchronous diagnosis of colorectal cancer (P < 0.01) and fulfillment of the criteria per the revised Bethesda guideline (P < 0.01) tended to be or were significantly associated with high-level microsatellite instability/mismatch repair loss.
Conclusions
The prevalence of Lynch syndrome among unselected upper urinary tract urothelial carcinoma patients was at least 1.8% in our study population. The screening efficacies of the microsatellite instability test and immunohistochemistry appear equivalent. Universal tumor screening may be a valid approach; however, selective screening methods that consider factors associated with mismatch repair loss/high-level microsatellite instability tumors require further investigation.
We conducted universal tumor screening among 164 unselected upper urinary tract urothelial carcinoma patients. The prevalence of Lynch syndrome was estimated to be at least 1.8%.</description><identifier>ISSN: 1465-3621</identifier><identifier>EISSN: 1465-3621</identifier><identifier>DOI: 10.1093/jjco/hyz140</identifier><identifier>PMID: 31665498</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Brain Neoplasms ; Carcinoma, Transitional Cell - genetics ; Colorectal Neoplasms - genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis - complications ; Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; DNA Mismatch Repair - genetics ; Early Detection of Cancer - methods ; Female ; Genetic Testing ; Humans ; Immunohistochemistry ; Japan - epidemiology ; Male ; Microsatellite Instability ; Microsatellite Repeats - genetics ; Middle Aged ; MutL Protein Homolog 1 - genetics ; Neoplastic Syndromes, Hereditary ; Prevalence ; Urinary Tract - pathology ; Urologic Neoplasms - complications ; Urologic Neoplasms - epidemiology ; Urologic Neoplasms - genetics</subject><ispartof>Japanese journal of clinical oncology, 2020-01, Vol.50 (1), p.80-88</ispartof><rights>The Author(s) 2019. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permission@oup.com. 2019</rights><rights>The Author(s) 2019. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permission@oup.com.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c311t-851c635a5cfd6ff9e62a0d4e9e76450c7707d8289047597161c7974d863a5f383</citedby><cites>FETCH-LOGICAL-c311t-851c635a5cfd6ff9e62a0d4e9e76450c7707d8289047597161c7974d863a5f383</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1578,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31665498$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ito, Tetsuya</creatorcontrib><creatorcontrib>Kono, Koji</creatorcontrib><creatorcontrib>Eguchi, Hidetaka</creatorcontrib><creatorcontrib>Okazaki, Yasushi</creatorcontrib><creatorcontrib>Yamamoto, Gou</creatorcontrib><creatorcontrib>Tachikawa, Tetsuhiko</creatorcontrib><creatorcontrib>Akagi, Kiwamu</creatorcontrib><creatorcontrib>Okada, Yohei</creatorcontrib><creatorcontrib>Kawakami, Satoru</creatorcontrib><creatorcontrib>Morozumi, Makoto</creatorcontrib><creatorcontrib>Tamaru, Jun-ichi</creatorcontrib><creatorcontrib>Ishida, Hideyuki</creatorcontrib><title>Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population</title><title>Japanese journal of clinical oncology</title><addtitle>Jpn J Clin Oncol</addtitle><description>Abstract
Background
The prevalence of Lynch syndrome and the use of universal tumor screening to identify Lynch syndrome among unselected patients with upper urinary tract urothelial carcinoma, which is associated with Lynch syndrome, have not been closely investigated yet.
Methods
A total of 166 tumors from 164 upper urinary tract urothelial carcinoma patients were tested for microsatellite instability and expression of mismatch repair proteins (MLH1, MHS2, MSH6 and PMS2) by immunohistochemistry. Genetic testing was performed for patients suspected of having Lynch syndrome. Clinicopathological factors, including familial and personal cancer history associated with mismatch repair deficiency, were evaluated.
Results
The frequency of high-level microsatellite instability and loss of at least one mismatch repair protein was 2.4% (4/164); the microsatellite instability and immunohistochemistry results showed complete concordance. Of these four patients, three were genetically proven to have Lynch syndrome, while the remaining one was highly suggestive for Lynch syndrome based on their personal cancer history. Univariate analysis showed that age<70 years (P = 0.04), ureter as the tumor location (P = 0.052), previous history/synchronous diagnosis of colorectal cancer (P < 0.01) and fulfillment of the criteria per the revised Bethesda guideline (P < 0.01) tended to be or were significantly associated with high-level microsatellite instability/mismatch repair loss.
Conclusions
The prevalence of Lynch syndrome among unselected upper urinary tract urothelial carcinoma patients was at least 1.8% in our study population. The screening efficacies of the microsatellite instability test and immunohistochemistry appear equivalent. Universal tumor screening may be a valid approach; however, selective screening methods that consider factors associated with mismatch repair loss/high-level microsatellite instability tumors require further investigation.
We conducted universal tumor screening among 164 unselected upper urinary tract urothelial carcinoma patients. The prevalence of Lynch syndrome was estimated to be at least 1.8%.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Brain Neoplasms</subject><subject>Carcinoma, Transitional Cell - genetics</subject><subject>Colorectal Neoplasms - genetics</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - complications</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>DNA Mismatch Repair - genetics</subject><subject>Early Detection of Cancer - methods</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Japan - epidemiology</subject><subject>Male</subject><subject>Microsatellite Instability</subject><subject>Microsatellite Repeats - genetics</subject><subject>Middle Aged</subject><subject>MutL Protein Homolog 1 - genetics</subject><subject>Neoplastic Syndromes, Hereditary</subject><subject>Prevalence</subject><subject>Urinary Tract - pathology</subject><subject>Urologic Neoplasms - complications</subject><subject>Urologic Neoplasms - epidemiology</subject><subject>Urologic Neoplasms - genetics</subject><issn>1465-3621</issn><issn>1465-3621</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kDtPwzAQgC0EouUxsSNPCAmF2nX8yIgqnqoEA8yR61xoqsQ2dlIUfj2pWhAT093w6dPdh9AZJdeUZGyyWhk3WfZfNCV7aExTwRMmpnT_zz5CRzGuCCFcpfIQjRgVgqeZGqP1S4C1rsEawK7E896aJY69LYJrAOvG2XfsdVuBbSP-rNol7ryHgLtQWR163AZtWmx0MJV1jcaVxRo_aa8tRMBLF33V6jpZ6AgF9s539SBz9gQdlLqOcLqbx-jt7vZ19pDMn-8fZzfzxDBK20RxagTjmpuyEGWZgZhqUqSQgRQpJ0ZKIgs1VRlJJc8kFdTITKaFEkzzkil2jC63Xh_cRwexzZsqGqjr4T7XxXzKKJE0U4oM6NUWNcHFGKDMfaia4cecknwTOt-EzrehB_p8J-4WDRS_7E_ZAbjYAq7z_5q-ATMeiPQ</recordid><startdate>20200124</startdate><enddate>20200124</enddate><creator>Ito, Tetsuya</creator><creator>Kono, Koji</creator><creator>Eguchi, Hidetaka</creator><creator>Okazaki, Yasushi</creator><creator>Yamamoto, Gou</creator><creator>Tachikawa, Tetsuhiko</creator><creator>Akagi, Kiwamu</creator><creator>Okada, Yohei</creator><creator>Kawakami, Satoru</creator><creator>Morozumi, Makoto</creator><creator>Tamaru, Jun-ichi</creator><creator>Ishida, Hideyuki</creator><general>Oxford University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20200124</creationdate><title>Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population</title><author>Ito, Tetsuya ; Kono, Koji ; Eguchi, Hidetaka ; Okazaki, Yasushi ; Yamamoto, Gou ; Tachikawa, Tetsuhiko ; Akagi, Kiwamu ; Okada, Yohei ; Kawakami, Satoru ; Morozumi, Makoto ; Tamaru, Jun-ichi ; Ishida, Hideyuki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c311t-851c635a5cfd6ff9e62a0d4e9e76450c7707d8289047597161c7974d863a5f383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Brain Neoplasms</topic><topic>Carcinoma, Transitional Cell - genetics</topic><topic>Colorectal Neoplasms - genetics</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - complications</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>DNA Mismatch Repair - genetics</topic><topic>Early Detection of Cancer - methods</topic><topic>Female</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Japan - epidemiology</topic><topic>Male</topic><topic>Microsatellite Instability</topic><topic>Microsatellite Repeats - genetics</topic><topic>Middle Aged</topic><topic>MutL Protein Homolog 1 - genetics</topic><topic>Neoplastic Syndromes, Hereditary</topic><topic>Prevalence</topic><topic>Urinary Tract - pathology</topic><topic>Urologic Neoplasms - complications</topic><topic>Urologic Neoplasms - epidemiology</topic><topic>Urologic Neoplasms - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ito, Tetsuya</creatorcontrib><creatorcontrib>Kono, Koji</creatorcontrib><creatorcontrib>Eguchi, Hidetaka</creatorcontrib><creatorcontrib>Okazaki, Yasushi</creatorcontrib><creatorcontrib>Yamamoto, Gou</creatorcontrib><creatorcontrib>Tachikawa, Tetsuhiko</creatorcontrib><creatorcontrib>Akagi, Kiwamu</creatorcontrib><creatorcontrib>Okada, Yohei</creatorcontrib><creatorcontrib>Kawakami, Satoru</creatorcontrib><creatorcontrib>Morozumi, Makoto</creatorcontrib><creatorcontrib>Tamaru, Jun-ichi</creatorcontrib><creatorcontrib>Ishida, Hideyuki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Japanese journal of clinical oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ito, Tetsuya</au><au>Kono, Koji</au><au>Eguchi, Hidetaka</au><au>Okazaki, Yasushi</au><au>Yamamoto, Gou</au><au>Tachikawa, Tetsuhiko</au><au>Akagi, Kiwamu</au><au>Okada, Yohei</au><au>Kawakami, Satoru</au><au>Morozumi, Makoto</au><au>Tamaru, Jun-ichi</au><au>Ishida, Hideyuki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population</atitle><jtitle>Japanese journal of clinical oncology</jtitle><addtitle>Jpn J Clin Oncol</addtitle><date>2020-01-24</date><risdate>2020</risdate><volume>50</volume><issue>1</issue><spage>80</spage><epage>88</epage><pages>80-88</pages><issn>1465-3621</issn><eissn>1465-3621</eissn><abstract>Abstract
Background
The prevalence of Lynch syndrome and the use of universal tumor screening to identify Lynch syndrome among unselected patients with upper urinary tract urothelial carcinoma, which is associated with Lynch syndrome, have not been closely investigated yet.
Methods
A total of 166 tumors from 164 upper urinary tract urothelial carcinoma patients were tested for microsatellite instability and expression of mismatch repair proteins (MLH1, MHS2, MSH6 and PMS2) by immunohistochemistry. Genetic testing was performed for patients suspected of having Lynch syndrome. Clinicopathological factors, including familial and personal cancer history associated with mismatch repair deficiency, were evaluated.
Results
The frequency of high-level microsatellite instability and loss of at least one mismatch repair protein was 2.4% (4/164); the microsatellite instability and immunohistochemistry results showed complete concordance. Of these four patients, three were genetically proven to have Lynch syndrome, while the remaining one was highly suggestive for Lynch syndrome based on their personal cancer history. Univariate analysis showed that age<70 years (P = 0.04), ureter as the tumor location (P = 0.052), previous history/synchronous diagnosis of colorectal cancer (P < 0.01) and fulfillment of the criteria per the revised Bethesda guideline (P < 0.01) tended to be or were significantly associated with high-level microsatellite instability/mismatch repair loss.
Conclusions
The prevalence of Lynch syndrome among unselected upper urinary tract urothelial carcinoma patients was at least 1.8% in our study population. The screening efficacies of the microsatellite instability test and immunohistochemistry appear equivalent. Universal tumor screening may be a valid approach; however, selective screening methods that consider factors associated with mismatch repair loss/high-level microsatellite instability tumors require further investigation.
We conducted universal tumor screening among 164 unselected upper urinary tract urothelial carcinoma patients. The prevalence of Lynch syndrome was estimated to be at least 1.8%.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>31665498</pmid><doi>10.1093/jjco/hyz140</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adult Aged Aged, 80 and over Brain Neoplasms Carcinoma, Transitional Cell - genetics Colorectal Neoplasms - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - complications Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mismatch Repair - genetics Early Detection of Cancer - methods Female Genetic Testing Humans Immunohistochemistry Japan - epidemiology Male Microsatellite Instability Microsatellite Repeats - genetics Middle Aged MutL Protein Homolog 1 - genetics Neoplastic Syndromes, Hereditary Prevalence Urinary Tract - pathology Urologic Neoplasms - complications Urologic Neoplasms - epidemiology Urologic Neoplasms - genetics |
| title | Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population |
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