Tumor development in Japanese patients with Lynch syndrome
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. This is a retrospective review of 55 LS patients treated at Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital. The...
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| Veröffentlicht in: | PloS one 2018-04, Vol.13 (4), p.e0195572-e0195572 |
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| creator | Saita, Chiaki Yamaguchi, Tatsuro Horiguchi, Shin-Ichiro Yamada, Rin Takao, Misato Iijima, Takeru Wakaume, Rika Aruga, Tomoyuki Tabata, Taku Koizumi, Koichi |
| description | 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.
This is a retrospective review of 55 LS patients treated at Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital.
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. Of the 55 LS patients with developing malignant tumors, 45 (93.8%) developed an LS-related tumor as the first malignant tumor. Colorectal cancer (CRC) developed in 47 patients (85.4%), followed by endometrial cancer (n = 13, 56.5%) in females and gastric cancer (n = 10, 18.1%). In 6 gastric cancer patients, Helicobacter pylori was detected in resected specimens. Twenty-nine patients (52.7%) developed CRC and extra-colonic tumors; of these, 15 patients (48.3%) had mutations in MLH1, 10 (58.8%) in MSH2, and 4 (57.1%) in MSH6. At the age of 50, the cumulative incidence was 50.9% [95% confidence interval (CI), 36.9-63.3%] for CRC, 17.4% (95% CI, 5.2-35.6%) for endometrial cancer, and 5.5% (95% CI, 1.4-13.8%) for gastric cancer. Eight gastric cancer, one breast cancer patient, five bladder cancer patients, and one prostate cancer patient demonstrated loss of expression of the mismatch repair (MMR) protein; patients with thyroid cancer, spindle cell sarcoma, and giant cell tumors did not demonstrate this.
Gastric cancer incidence was high in Japanese patients with LS and associated with H. pylori infection. MMR protein deficiency caused the development of malignant tumors in LS patients. |
| doi_str_mv | 10.1371/journal.pone.0195572 |
| format | Article |
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This is a retrospective review of 55 LS patients treated at Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital.
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. Of the 55 LS patients with developing malignant tumors, 45 (93.8%) developed an LS-related tumor as the first malignant tumor. Colorectal cancer (CRC) developed in 47 patients (85.4%), followed by endometrial cancer (n = 13, 56.5%) in females and gastric cancer (n = 10, 18.1%). In 6 gastric cancer patients, Helicobacter pylori was detected in resected specimens. Twenty-nine patients (52.7%) developed CRC and extra-colonic tumors; of these, 15 patients (48.3%) had mutations in MLH1, 10 (58.8%) in MSH2, and 4 (57.1%) in MSH6. At the age of 50, the cumulative incidence was 50.9% [95% confidence interval (CI), 36.9-63.3%] for CRC, 17.4% (95% CI, 5.2-35.6%) for endometrial cancer, and 5.5% (95% CI, 1.4-13.8%) for gastric cancer. Eight gastric cancer, one breast cancer patient, five bladder cancer patients, and one prostate cancer patient demonstrated loss of expression of the mismatch repair (MMR) protein; patients with thyroid cancer, spindle cell sarcoma, and giant cell tumors did not demonstrate this.
Gastric cancer incidence was high in Japanese patients with LS and associated with H. pylori infection. MMR protein deficiency caused the development of malignant tumors in LS patients.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0195572</identifier><identifier>PMID: 29672549</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Age of Onset ; Aged ; Bladder ; Bladder cancer ; Brain research ; Breast cancer ; Cancer ; Care and treatment ; Cloning ; Colorectal cancer ; Colorectal carcinoma ; Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis - pathology ; Colorectal Neoplasms, Hereditary Nonpolyposis - physiopathology ; Confidence intervals ; Development and progression ; Endometrial cancer ; Endometrium ; Female ; Females ; Gastric cancer ; Gastroenterology ; Genes ; Genetic disorders ; Helicobacter Infections - epidemiology ; Helicobacter Infections - genetics ; Helicobacter Infections - pathology ; Helicobacter Infections - physiopathology ; Helicobacter pylori ; Hospitals ; Humans ; Immunohistochemistry ; Incidence ; Infectious diseases ; Japan ; Male ; Medicine and Health Sciences ; Middle Aged ; Mismatch repair ; MLH1 protein ; MMR protein ; MSH2 protein ; MSH6 protein ; Mutation ; Neoplasms - epidemiology ; Neoplasms - genetics ; Neoplasms - pathology ; Neoplasms - physiopathology ; Patients ; Prostate cancer ; Protein deficiency ; Retrospective Studies ; Risk factors ; Sarcoma ; Stomach cancer ; Surgery ; Thyroid ; Thyroid cancer ; Tumors ; Uterine cancer ; Young Adult</subject><ispartof>PloS one, 2018-04, Vol.13 (4), p.e0195572-e0195572</ispartof><rights>COPYRIGHT 2018 Public Library of Science</rights><rights>2018 Saita et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2018 Saita et al 2018 Saita et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-7564036b733381541ed9ac4574559603a8659449b5c8e8f9df932aa3ae05218d3</citedby><cites>FETCH-LOGICAL-c692t-7564036b733381541ed9ac4574559603a8659449b5c8e8f9df932aa3ae05218d3</cites><orcidid>0000-0001-8454-1995</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908237/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908237/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53769,53771,79346,79347</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29672549$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Nagasaka, Takeshi</contributor><creatorcontrib>Saita, Chiaki</creatorcontrib><creatorcontrib>Yamaguchi, Tatsuro</creatorcontrib><creatorcontrib>Horiguchi, Shin-Ichiro</creatorcontrib><creatorcontrib>Yamada, Rin</creatorcontrib><creatorcontrib>Takao, Misato</creatorcontrib><creatorcontrib>Iijima, Takeru</creatorcontrib><creatorcontrib>Wakaume, Rika</creatorcontrib><creatorcontrib>Aruga, Tomoyuki</creatorcontrib><creatorcontrib>Tabata, Taku</creatorcontrib><creatorcontrib>Koizumi, Koichi</creatorcontrib><title>Tumor development in Japanese patients with Lynch syndrome</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>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.
This is a retrospective review of 55 LS patients treated at Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital.
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. Of the 55 LS patients with developing malignant tumors, 45 (93.8%) developed an LS-related tumor as the first malignant tumor. Colorectal cancer (CRC) developed in 47 patients (85.4%), followed by endometrial cancer (n = 13, 56.5%) in females and gastric cancer (n = 10, 18.1%). In 6 gastric cancer patients, Helicobacter pylori was detected in resected specimens. Twenty-nine patients (52.7%) developed CRC and extra-colonic tumors; of these, 15 patients (48.3%) had mutations in MLH1, 10 (58.8%) in MSH2, and 4 (57.1%) in MSH6. At the age of 50, the cumulative incidence was 50.9% [95% confidence interval (CI), 36.9-63.3%] for CRC, 17.4% (95% CI, 5.2-35.6%) for endometrial cancer, and 5.5% (95% CI, 1.4-13.8%) for gastric cancer. Eight gastric cancer, one breast cancer patient, five bladder cancer patients, and one prostate cancer patient demonstrated loss of expression of the mismatch repair (MMR) protein; patients with thyroid cancer, spindle cell sarcoma, and giant cell tumors did not demonstrate this.
Gastric cancer incidence was high in Japanese patients with LS and associated with H. pylori infection. MMR protein deficiency caused the development of malignant tumors in LS patients.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Bladder</subject><subject>Bladder cancer</subject><subject>Brain research</subject><subject>Breast cancer</subject><subject>Cancer</subject><subject>Care and treatment</subject><subject>Cloning</subject><subject>Colorectal cancer</subject><subject>Colorectal carcinoma</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - pathology</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - physiopathology</subject><subject>Confidence intervals</subject><subject>Development and progression</subject><subject>Endometrial cancer</subject><subject>Endometrium</subject><subject>Female</subject><subject>Females</subject><subject>Gastric cancer</subject><subject>Gastroenterology</subject><subject>Genes</subject><subject>Genetic disorders</subject><subject>Helicobacter Infections - epidemiology</subject><subject>Helicobacter Infections - genetics</subject><subject>Helicobacter Infections - pathology</subject><subject>Helicobacter Infections - physiopathology</subject><subject>Helicobacter pylori</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Incidence</subject><subject>Infectious diseases</subject><subject>Japan</subject><subject>Male</subject><subject>Medicine and Health Sciences</subject><subject>Middle Aged</subject><subject>Mismatch repair</subject><subject>MLH1 protein</subject><subject>MMR protein</subject><subject>MSH2 protein</subject><subject>MSH6 protein</subject><subject>Mutation</subject><subject>Neoplasms - epidemiology</subject><subject>Neoplasms - genetics</subject><subject>Neoplasms - pathology</subject><subject>Neoplasms - physiopathology</subject><subject>Patients</subject><subject>Prostate cancer</subject><subject>Protein deficiency</subject><subject>Retrospective Studies</subject><subject>Risk factors</subject><subject>Sarcoma</subject><subject>Stomach cancer</subject><subject>Surgery</subject><subject>Thyroid</subject><subject>Thyroid cancer</subject><subject>Tumors</subject><subject>Uterine cancer</subject><subject>Young Adult</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNkl1v0zAUhiMEYmPwDxBEQkJw0WL7xF9cIE0TH0WVJsHg1nIdp3WVxMFOBv33uGs2NWgXyBe2jp_zHp_jN8ueYzTHwPG7rR9Cq-t551s7R1hSysmD7BRLIDNGEDw8Op9kT2LcIkRBMPY4OyGScUILeZq9vxoaH_LSXtvad41t-9y1-Vfd6dZGm3e6dykW89-u3-TLXWs2edy1ZfCNfZo9qnQd7bNxP8t-fPp4dfFltrz8vLg4X84Mk6SfccoKBGzFAUBgWmBbSm0KygtKJUOgBaOyKOSKGmFFJcsqvVpr0BZRgkUJZ9nLg25X-6jGtqMiiHAGwDBLxOJAlF5vVRdco8NOee3UTcCHtdKhd6a2StDKaokxZ4UoGFABtCS8ooAM8MquktaHsdqwamxpUvdB1xPR6U3rNmrtrxWVSBDgSeDNKBD8r8HGXjUuGlvXaaJ-uHm3kByBxAl99Q96f3cjtdapAddWPtU1e1F1ToEC7MFEze-h0ipt40zySOVSfJLwdpKQmN7-6dd6iFEtvn_7f_by55R9fcRurK77TfT10DvfxilYHEATfIzBVndDxkjtLX47DbW3uBotntJeHH_QXdKtp-EvfNfzXQ</recordid><startdate>20180419</startdate><enddate>20180419</enddate><creator>Saita, 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development in Japanese patients with Lynch syndrome</title><author>Saita, Chiaki ; Yamaguchi, Tatsuro ; Horiguchi, Shin-Ichiro ; Yamada, Rin ; Takao, Misato ; Iijima, Takeru ; Wakaume, Rika ; Aruga, Tomoyuki ; Tabata, Taku ; Koizumi, Koichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-7564036b733381541ed9ac4574559603a8659449b5c8e8f9df932aa3ae05218d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Bladder</topic><topic>Bladder cancer</topic><topic>Brain research</topic><topic>Breast cancer</topic><topic>Cancer</topic><topic>Care and treatment</topic><topic>Cloning</topic><topic>Colorectal cancer</topic><topic>Colorectal carcinoma</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - pathology</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - physiopathology</topic><topic>Confidence intervals</topic><topic>Development and progression</topic><topic>Endometrial cancer</topic><topic>Endometrium</topic><topic>Female</topic><topic>Females</topic><topic>Gastric cancer</topic><topic>Gastroenterology</topic><topic>Genes</topic><topic>Genetic disorders</topic><topic>Helicobacter Infections - epidemiology</topic><topic>Helicobacter Infections - genetics</topic><topic>Helicobacter Infections - pathology</topic><topic>Helicobacter Infections - physiopathology</topic><topic>Helicobacter pylori</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Incidence</topic><topic>Infectious diseases</topic><topic>Japan</topic><topic>Male</topic><topic>Medicine and Health Sciences</topic><topic>Middle Aged</topic><topic>Mismatch repair</topic><topic>MLH1 protein</topic><topic>MMR protein</topic><topic>MSH2 protein</topic><topic>MSH6 protein</topic><topic>Mutation</topic><topic>Neoplasms - epidemiology</topic><topic>Neoplasms - genetics</topic><topic>Neoplasms - pathology</topic><topic>Neoplasms - physiopathology</topic><topic>Patients</topic><topic>Prostate cancer</topic><topic>Protein deficiency</topic><topic>Retrospective Studies</topic><topic>Risk factors</topic><topic>Sarcoma</topic><topic>Stomach cancer</topic><topic>Surgery</topic><topic>Thyroid</topic><topic>Thyroid cancer</topic><topic>Tumors</topic><topic>Uterine cancer</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saita, Chiaki</creatorcontrib><creatorcontrib>Yamaguchi, Tatsuro</creatorcontrib><creatorcontrib>Horiguchi, Shin-Ichiro</creatorcontrib><creatorcontrib>Yamada, Rin</creatorcontrib><creatorcontrib>Takao, Misato</creatorcontrib><creatorcontrib>Iijima, Takeru</creatorcontrib><creatorcontrib>Wakaume, 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Rin</au><au>Takao, Misato</au><au>Iijima, Takeru</au><au>Wakaume, Rika</au><au>Aruga, Tomoyuki</au><au>Tabata, Taku</au><au>Koizumi, Koichi</au><au>Nagasaka, Takeshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tumor development in Japanese patients with Lynch syndrome</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2018-04-19</date><risdate>2018</risdate><volume>13</volume><issue>4</issue><spage>e0195572</spage><epage>e0195572</epage><pages>e0195572-e0195572</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>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.
This is a retrospective review of 55 LS patients treated at Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital.
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. Of the 55 LS patients with developing malignant tumors, 45 (93.8%) developed an LS-related tumor as the first malignant tumor. Colorectal cancer (CRC) developed in 47 patients (85.4%), followed by endometrial cancer (n = 13, 56.5%) in females and gastric cancer (n = 10, 18.1%). In 6 gastric cancer patients, Helicobacter pylori was detected in resected specimens. Twenty-nine patients (52.7%) developed CRC and extra-colonic tumors; of these, 15 patients (48.3%) had mutations in MLH1, 10 (58.8%) in MSH2, and 4 (57.1%) in MSH6. At the age of 50, the cumulative incidence was 50.9% [95% confidence interval (CI), 36.9-63.3%] for CRC, 17.4% (95% CI, 5.2-35.6%) for endometrial cancer, and 5.5% (95% CI, 1.4-13.8%) for gastric cancer. Eight gastric cancer, one breast cancer patient, five bladder cancer patients, and one prostate cancer patient demonstrated loss of expression of the mismatch repair (MMR) protein; patients with thyroid cancer, spindle cell sarcoma, and giant cell tumors did not demonstrate this.
Gastric cancer incidence was high in Japanese patients with LS and associated with H. pylori infection. MMR protein deficiency caused the development of malignant tumors in LS patients.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>29672549</pmid><doi>10.1371/journal.pone.0195572</doi><tpages>e0195572</tpages><orcidid>https://orcid.org/0000-0001-8454-1995</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2018-04, Vol.13 (4), p.e0195572-e0195572 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2027633616 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS) Journals Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Adult Age of Onset Aged Bladder Bladder cancer Brain research Breast cancer Cancer Care and treatment Cloning Colorectal cancer Colorectal carcinoma Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - pathology Colorectal Neoplasms, Hereditary Nonpolyposis - physiopathology Confidence intervals Development and progression Endometrial cancer Endometrium Female Females Gastric cancer Gastroenterology Genes Genetic disorders Helicobacter Infections - epidemiology Helicobacter Infections - genetics Helicobacter Infections - pathology Helicobacter Infections - physiopathology Helicobacter pylori Hospitals Humans Immunohistochemistry Incidence Infectious diseases Japan Male Medicine and Health Sciences Middle Aged Mismatch repair MLH1 protein MMR protein MSH2 protein MSH6 protein Mutation Neoplasms - epidemiology Neoplasms - genetics Neoplasms - pathology Neoplasms - physiopathology Patients Prostate cancer Protein deficiency Retrospective Studies Risk factors Sarcoma Stomach cancer Surgery Thyroid Thyroid cancer Tumors Uterine cancer Young Adult |
| title | Tumor development in Japanese patients with Lynch syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-26T08%3A27%3A45IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Tumor%20development%20in%20Japanese%20patients%20with%20Lynch%20syndrome&rft.jtitle=PloS%20one&rft.au=Saita,%20Chiaki&rft.date=2018-04-19&rft.volume=13&rft.issue=4&rft.spage=e0195572&rft.epage=e0195572&rft.pages=e0195572-e0195572&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0195572&rft_dat=%3Cgale_plos_%3EA535337633%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2027633616&rft_id=info:pmid/29672549&rft_galeid=A535337633&rft_doaj_id=oai_doaj_org_article_85fea91176484635835d27f530c37feb&rfr_iscdi=true |