Molecular profiling of the colon cancer in South-Eastern Romania: Results from the MERCUR study
Colorectal cancer is a heterogeneous disease with multiple epigenetic alterations and different molecular features. The molecular classification is based on 2 major distinct pathways: microsatellite stable pathway and the microsatellite instability pathway. Molecular profiling of colorectal cancer p...
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| Veröffentlicht in: | Medicine (Baltimore) 2021-01, Vol.100 (1), p.e24062-e24062 |
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| creator | Popescu, Razvan Catalin Tocia, Cristina Brînzan, Costel Cozaru, Georgeta Camelia Deacu, Mariana Dumitru, Andrei Leopa, Nicoleta Mitroi, Anca Florentina Nicolau, Anca Dumitru, Eugen |
| description | Colorectal cancer is a heterogeneous disease with multiple epigenetic alterations and different molecular features. The molecular classification is based on 2 major distinct pathways: microsatellite stable pathway and the microsatellite instability pathway. Molecular profiling of colorectal cancer provides important information regarding treatment and prognosis. Aim of the study was to assess the frequency of microsatellite instability in colon cancer and the clinicopathological characteristics of the tumors with high level of microsatellite instability (MSI-H) in our region. The secondary outcome was to assess the frequency of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations in colon cancer.The study included 129 patients with colon cancer fit for surgery. Demographic data, clinical and pathological data, immunohistochemistry staining pattern (4 mismatch repair proteins were investigated), and BRAF gene mutations were assessed. According to microsatellite instability status by polymerase chain reaction, patients were divided into 3 groups: microsatellite stable (MSS) = 108 patients, high level of microsatellite instability (MSI-H) = 15 patients and low level of microsatellite instability (MSI-L) = 6 patients. Different clinicopathological comparisons between MSS and MSI-H patients, and between MSS and MSI-L patients were performed.Microsatellite instability was found in 16.3% patients: 11.6% had MSI-H and 4.7% had MSI-L. Significantly more patients in the MSI-H group than in the MSS group were female (P = .01) and had a family history of colon cancer (P |
| doi_str_mv | 10.1097/MD.0000000000024062 |
| format | Article |
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The molecular classification is based on 2 major distinct pathways: microsatellite stable pathway and the microsatellite instability pathway. Molecular profiling of colorectal cancer provides important information regarding treatment and prognosis. Aim of the study was to assess the frequency of microsatellite instability in colon cancer and the clinicopathological characteristics of the tumors with high level of microsatellite instability (MSI-H) in our region. The secondary outcome was to assess the frequency of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations in colon cancer.The study included 129 patients with colon cancer fit for surgery. Demographic data, clinical and pathological data, immunohistochemistry staining pattern (4 mismatch repair proteins were investigated), and BRAF gene mutations were assessed. According to microsatellite instability status by polymerase chain reaction, patients were divided into 3 groups: microsatellite stable (MSS) = 108 patients, high level of microsatellite instability (MSI-H) = 15 patients and low level of microsatellite instability (MSI-L) = 6 patients. Different clinicopathological comparisons between MSS and MSI-H patients, and between MSS and MSI-L patients were performed.Microsatellite instability was found in 16.3% patients: 11.6% had MSI-H and 4.7% had MSI-L. Significantly more patients in the MSI-H group than in the MSS group were female (P = .01) and had a family history of colon cancer (P < .001). MSI-H and MSI-L groups were associated with the ascending colon location of the tumors, were mostly type G3, T2, and stage I whereas MSS tumors were mostly G2, pT3, and stage III. Overall, BRAF mutations were identified in 18/129 patients (13.9%). BRAF mutant tumors were predominantly associated with MSI-H and MSI-L tumors. Immunohistochemistry had a sensitivity of 76% and a specificity of 89% in detecting MSI tumors and an accuracy of 87.6%.The frequency of microsatellite instability in our study was 16.3%. MSI-H is a distinct molecular phenotype of colon cancer with particular features: female gender, family history of colorectal cancer, a predilection for the ascending colon, poorly differentiated, predominantly T2, and stage I. The frequency of BRAF mutations was 13.9% and mutations were more often present in the MSI tumors.</description><identifier>ISSN: 0025-7974</identifier><identifier>EISSN: 1536-5964</identifier><identifier>DOI: 10.1097/MD.0000000000024062</identifier><identifier>PMID: 33429770</identifier><language>eng</language><publisher>United States: Lippincott Williams & Wilkins</publisher><subject>Aged ; Colonic Neoplasms - epidemiology ; Colonic Neoplasms - genetics ; Female ; Humans ; Male ; Middle Aged ; Molecular Diagnostic Techniques - methods ; Molecular Diagnostic Techniques - statistics & numerical data ; Mutation - genetics ; Observational Study ; Proto-Oncogene Proteins B-raf - analysis ; Proto-Oncogene Proteins B-raf - genetics ; Romania - epidemiology ; Statistics, Nonparametric</subject><ispartof>Medicine (Baltimore), 2021-01, Vol.100 (1), p.e24062-e24062</ispartof><rights>Lippincott Williams & Wilkins</rights><rights>Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.</rights><rights>Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3556-cacdce0ffccabbe738128ad0df761a9a92064870f610e8e7de22f70a8167526e3</cites><orcidid>0000-0002-4857-0630</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/PMC7793453/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793453/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33429770$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Popescu, Razvan Catalin</creatorcontrib><creatorcontrib>Tocia, Cristina</creatorcontrib><creatorcontrib>Brînzan, Costel</creatorcontrib><creatorcontrib>Cozaru, Georgeta Camelia</creatorcontrib><creatorcontrib>Deacu, Mariana</creatorcontrib><creatorcontrib>Dumitru, Andrei</creatorcontrib><creatorcontrib>Leopa, Nicoleta</creatorcontrib><creatorcontrib>Mitroi, Anca Florentina</creatorcontrib><creatorcontrib>Nicolau, Anca</creatorcontrib><creatorcontrib>Dumitru, Eugen</creatorcontrib><title>Molecular profiling of the colon cancer in South-Eastern Romania: Results from the MERCUR study</title><title>Medicine (Baltimore)</title><addtitle>Medicine (Baltimore)</addtitle><description>Colorectal cancer is a heterogeneous disease with multiple epigenetic alterations and different molecular features. The molecular classification is based on 2 major distinct pathways: microsatellite stable pathway and the microsatellite instability pathway. Molecular profiling of colorectal cancer provides important information regarding treatment and prognosis. Aim of the study was to assess the frequency of microsatellite instability in colon cancer and the clinicopathological characteristics of the tumors with high level of microsatellite instability (MSI-H) in our region. The secondary outcome was to assess the frequency of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations in colon cancer.The study included 129 patients with colon cancer fit for surgery. Demographic data, clinical and pathological data, immunohistochemistry staining pattern (4 mismatch repair proteins were investigated), and BRAF gene mutations were assessed. According to microsatellite instability status by polymerase chain reaction, patients were divided into 3 groups: microsatellite stable (MSS) = 108 patients, high level of microsatellite instability (MSI-H) = 15 patients and low level of microsatellite instability (MSI-L) = 6 patients. Different clinicopathological comparisons between MSS and MSI-H patients, and between MSS and MSI-L patients were performed.Microsatellite instability was found in 16.3% patients: 11.6% had MSI-H and 4.7% had MSI-L. Significantly more patients in the MSI-H group than in the MSS group were female (P = .01) and had a family history of colon cancer (P < .001). MSI-H and MSI-L groups were associated with the ascending colon location of the tumors, were mostly type G3, T2, and stage I whereas MSS tumors were mostly G2, pT3, and stage III. Overall, BRAF mutations were identified in 18/129 patients (13.9%). BRAF mutant tumors were predominantly associated with MSI-H and MSI-L tumors. Immunohistochemistry had a sensitivity of 76% and a specificity of 89% in detecting MSI tumors and an accuracy of 87.6%.The frequency of microsatellite instability in our study was 16.3%. MSI-H is a distinct molecular phenotype of colon cancer with particular features: female gender, family history of colorectal cancer, a predilection for the ascending colon, poorly differentiated, predominantly T2, and stage I. The frequency of BRAF mutations was 13.9% and mutations were more often present in the MSI tumors.</description><subject>Aged</subject><subject>Colonic Neoplasms - epidemiology</subject><subject>Colonic Neoplasms - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Diagnostic Techniques - methods</subject><subject>Molecular Diagnostic Techniques - statistics & numerical data</subject><subject>Mutation - genetics</subject><subject>Observational Study</subject><subject>Proto-Oncogene Proteins B-raf - analysis</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Romania - epidemiology</subject><subject>Statistics, Nonparametric</subject><issn>0025-7974</issn><issn>1536-5964</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkUtv1DAUhS0EokPhFyAhL9mkXD9iJyyQ0HR4SB0hDXRteZzrJuDYg51Q9d8TOqU8vLF0fM53r3wIec7gjEGrX23Pz-DP4RIUf0BWrBaqqlslH5LVotaVbrU8IU9K-QrAhObyMTkRQvJWa1gRs00B3Rxspoec_BCGeEWTp1OP1KWQInU2Osx0iPRzmqe-2tgyYY50l0YbB_ua7rDMYSrU5zTe5rab3fpyR8s0dzdPySNvQ8Fnd_cpuXy3-bL-UF18ev9x_faicqKuVeWs6xyC987Z_R61aBhvbAed14rZ1rYclGw0eMUAG9Qdcu412IYpXXOF4pS8OXIP837EhRWnbIM55GG0-cYkO5h_X-LQm6v0w2jdClmLBfDyDpDT9xnLZMahOAzBRkxzMVxqzRUXHBarOFpdTqVk9PdjGJhf1Zjtufm_miX14u8N7zO_u1gM8mi4TmH54fItzNeYTY82TP0tr9YtrzhwBgwaqBZFKvETvJGaUg</recordid><startdate>20210108</startdate><enddate>20210108</enddate><creator>Popescu, Razvan Catalin</creator><creator>Tocia, Cristina</creator><creator>Brînzan, Costel</creator><creator>Cozaru, Georgeta Camelia</creator><creator>Deacu, Mariana</creator><creator>Dumitru, Andrei</creator><creator>Leopa, Nicoleta</creator><creator>Mitroi, Anca Florentina</creator><creator>Nicolau, Anca</creator><creator>Dumitru, Eugen</creator><general>Lippincott Williams & Wilkins</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><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-4857-0630</orcidid></search><sort><creationdate>20210108</creationdate><title>Molecular profiling of the colon cancer in South-Eastern Romania: Results from the MERCUR study</title><author>Popescu, Razvan Catalin ; Tocia, Cristina ; Brînzan, Costel ; Cozaru, Georgeta Camelia ; Deacu, Mariana ; Dumitru, Andrei ; Leopa, Nicoleta ; Mitroi, Anca Florentina ; Nicolau, Anca ; Dumitru, Eugen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3556-cacdce0ffccabbe738128ad0df761a9a92064870f610e8e7de22f70a8167526e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Aged</topic><topic>Colonic Neoplasms - epidemiology</topic><topic>Colonic Neoplasms - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Diagnostic Techniques - methods</topic><topic>Molecular Diagnostic Techniques - statistics & numerical data</topic><topic>Mutation - genetics</topic><topic>Observational Study</topic><topic>Proto-Oncogene Proteins B-raf - analysis</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Romania - epidemiology</topic><topic>Statistics, Nonparametric</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Popescu, Razvan Catalin</creatorcontrib><creatorcontrib>Tocia, Cristina</creatorcontrib><creatorcontrib>Brînzan, Costel</creatorcontrib><creatorcontrib>Cozaru, Georgeta Camelia</creatorcontrib><creatorcontrib>Deacu, Mariana</creatorcontrib><creatorcontrib>Dumitru, Andrei</creatorcontrib><creatorcontrib>Leopa, Nicoleta</creatorcontrib><creatorcontrib>Mitroi, Anca Florentina</creatorcontrib><creatorcontrib>Nicolau, Anca</creatorcontrib><creatorcontrib>Dumitru, Eugen</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Medicine (Baltimore)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Popescu, Razvan Catalin</au><au>Tocia, Cristina</au><au>Brînzan, Costel</au><au>Cozaru, Georgeta Camelia</au><au>Deacu, Mariana</au><au>Dumitru, Andrei</au><au>Leopa, Nicoleta</au><au>Mitroi, Anca Florentina</au><au>Nicolau, Anca</au><au>Dumitru, Eugen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular profiling of the colon cancer in South-Eastern Romania: Results from the MERCUR study</atitle><jtitle>Medicine (Baltimore)</jtitle><addtitle>Medicine (Baltimore)</addtitle><date>2021-01-08</date><risdate>2021</risdate><volume>100</volume><issue>1</issue><spage>e24062</spage><epage>e24062</epage><pages>e24062-e24062</pages><issn>0025-7974</issn><eissn>1536-5964</eissn><abstract>Colorectal cancer is a heterogeneous disease with multiple epigenetic alterations and different molecular features. The molecular classification is based on 2 major distinct pathways: microsatellite stable pathway and the microsatellite instability pathway. Molecular profiling of colorectal cancer provides important information regarding treatment and prognosis. Aim of the study was to assess the frequency of microsatellite instability in colon cancer and the clinicopathological characteristics of the tumors with high level of microsatellite instability (MSI-H) in our region. The secondary outcome was to assess the frequency of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations in colon cancer.The study included 129 patients with colon cancer fit for surgery. Demographic data, clinical and pathological data, immunohistochemistry staining pattern (4 mismatch repair proteins were investigated), and BRAF gene mutations were assessed. According to microsatellite instability status by polymerase chain reaction, patients were divided into 3 groups: microsatellite stable (MSS) = 108 patients, high level of microsatellite instability (MSI-H) = 15 patients and low level of microsatellite instability (MSI-L) = 6 patients. Different clinicopathological comparisons between MSS and MSI-H patients, and between MSS and MSI-L patients were performed.Microsatellite instability was found in 16.3% patients: 11.6% had MSI-H and 4.7% had MSI-L. Significantly more patients in the MSI-H group than in the MSS group were female (P = .01) and had a family history of colon cancer (P < .001). MSI-H and MSI-L groups were associated with the ascending colon location of the tumors, were mostly type G3, T2, and stage I whereas MSS tumors were mostly G2, pT3, and stage III. Overall, BRAF mutations were identified in 18/129 patients (13.9%). BRAF mutant tumors were predominantly associated with MSI-H and MSI-L tumors. Immunohistochemistry had a sensitivity of 76% and a specificity of 89% in detecting MSI tumors and an accuracy of 87.6%.The frequency of microsatellite instability in our study was 16.3%. MSI-H is a distinct molecular phenotype of colon cancer with particular features: female gender, family history of colorectal cancer, a predilection for the ascending colon, poorly differentiated, predominantly T2, and stage I. The frequency of BRAF mutations was 13.9% and mutations were more often present in the MSI tumors.</abstract><cop>United States</cop><pub>Lippincott Williams & Wilkins</pub><pmid>33429770</pmid><doi>10.1097/MD.0000000000024062</doi><orcidid>https://orcid.org/0000-0002-4857-0630</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Aged Colonic Neoplasms - epidemiology Colonic Neoplasms - genetics Female Humans Male Middle Aged Molecular Diagnostic Techniques - methods Molecular Diagnostic Techniques - statistics & numerical data Mutation - genetics Observational Study Proto-Oncogene Proteins B-raf - analysis Proto-Oncogene Proteins B-raf - genetics Romania - epidemiology Statistics, Nonparametric |
| title | Molecular profiling of the colon cancer in South-Eastern Romania: Results from the MERCUR study |
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