High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53
Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the...
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| Veröffentlicht in: | Cancers 2020-03, Vol.12 (3), p.621 |
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| creator | Brondani, Vania Balderrama Montenegro, Luciana Lacombe, Amanda Meneses Ferreira Magalhães, Breno Marchiori Nishi, Mirian Yumie Funari, Mariana Ferreira de Assis Narcizo, Amanda de Moraes Cardoso, Lais Cavalca Siqueira, Sheila Aparecida Coelho Zerbini, Maria Claudia Nogueira Denes, Francisco Tibor Latronico, Ana Claudia Mendonca, Berenice Bilharinho Almeida, Madson Queiroz Lerario, Antonio Marcondes Soares, Ibere Cauduro Fragoso, Maria Candida Barisson Villares |
| description | Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the prevalence of alterations in DNA mismatch repair (MMR) genes in Lynch syndrome among pediatric patients with adrenocortical neoplasia from southern Brazil, where the prevalence of a specific
germline mutation (p.Arg337His) is quite high. Thirty-six pediatric patients were retrospectively evaluated. Immunohistochemistry (IHC) for the MMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumors were tested. In all of them, the expression of all evaluated MMR proteins was well-preserved. For NGS, 35 patients with pediatric tumor were tested. Three patients (8.57%) with the
p.Arg337His germline mutation presented pathogenic and likely pathogenic variants in the
genes (two in
and one in
). The prevalence of altered
genes among pediatric patients was elevated (8.57%) and higher than in colorectal and endometrial cancer cohorts. Pediatric patients with adrenocortical tumors should, thus, be strongly considered as at genetic risk for Lynch syndrome. |
| doi_str_mv | 10.3390/cancers12030621 |
| format | Article |
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germline mutation (p.Arg337His) is quite high. Thirty-six pediatric patients were retrospectively evaluated. Immunohistochemistry (IHC) for the MMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumors were tested. In all of them, the expression of all evaluated MMR proteins was well-preserved. For NGS, 35 patients with pediatric tumor were tested. Three patients (8.57%) with the
p.Arg337His germline mutation presented pathogenic and likely pathogenic variants in the
genes (two in
and one in
). The prevalence of altered
genes among pediatric patients was elevated (8.57%) and higher than in colorectal and endometrial cancer cohorts. Pediatric patients with adrenocortical tumors should, thus, be strongly considered as at genetic risk for Lynch syndrome.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers12030621</identifier><identifier>PMID: 32156018</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Cancer ; Chemotherapy ; Deoxyribonucleic acid ; DNA ; DNA methylation ; DNA repair ; Endometrium ; Genes ; Genomes ; Immunohistochemistry ; Mismatch repair ; MLH1 protein ; MSH2 protein ; MSH6 protein ; Mutation ; Next-generation sequencing ; p53 Protein ; Patients ; Pediatrics ; Protein expression ; Tumorigenesis ; Tumors</subject><ispartof>Cancers, 2020-03, Vol.12 (3), p.621</ispartof><rights>2020. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 by the authors. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c421t-87d9c4f3fd31e1f6d328073cdaa17f7b2be641b1d76926d427bd8fb585b628a63</citedby><cites>FETCH-LOGICAL-c421t-87d9c4f3fd31e1f6d328073cdaa17f7b2be641b1d76926d427bd8fb585b628a63</cites><orcidid>0000-0001-6383-4668 ; 0000-0001-6603-3188 ; 0000-0002-7408-9816</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/PMC7139318/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139318/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32156018$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brondani, Vania Balderrama</creatorcontrib><creatorcontrib>Montenegro, Luciana</creatorcontrib><creatorcontrib>Lacombe, Amanda Meneses Ferreira</creatorcontrib><creatorcontrib>Magalhães, Breno Marchiori</creatorcontrib><creatorcontrib>Nishi, Mirian Yumie</creatorcontrib><creatorcontrib>Funari, Mariana Ferreira de Assis</creatorcontrib><creatorcontrib>Narcizo, Amanda de Moraes</creatorcontrib><creatorcontrib>Cardoso, Lais Cavalca</creatorcontrib><creatorcontrib>Siqueira, Sheila Aparecida Coelho</creatorcontrib><creatorcontrib>Zerbini, Maria Claudia Nogueira</creatorcontrib><creatorcontrib>Denes, Francisco Tibor</creatorcontrib><creatorcontrib>Latronico, Ana Claudia</creatorcontrib><creatorcontrib>Mendonca, Berenice Bilharinho</creatorcontrib><creatorcontrib>Almeida, Madson Queiroz</creatorcontrib><creatorcontrib>Lerario, Antonio Marcondes</creatorcontrib><creatorcontrib>Soares, Ibere Cauduro</creatorcontrib><creatorcontrib>Fragoso, Maria Candida Barisson Villares</creatorcontrib><title>High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53</title><title>Cancers</title><addtitle>Cancers (Basel)</addtitle><description>Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the prevalence of alterations in DNA mismatch repair (MMR) genes in Lynch syndrome among pediatric patients with adrenocortical neoplasia from southern Brazil, where the prevalence of a specific
germline mutation (p.Arg337His) is quite high. Thirty-six pediatric patients were retrospectively evaluated. Immunohistochemistry (IHC) for the MMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumors were tested. In all of them, the expression of all evaluated MMR proteins was well-preserved. For NGS, 35 patients with pediatric tumor were tested. Three patients (8.57%) with the
p.Arg337His germline mutation presented pathogenic and likely pathogenic variants in the
genes (two in
and one in
). The prevalence of altered
genes among pediatric patients was elevated (8.57%) and higher than in colorectal and endometrial cancer cohorts. Pediatric patients with adrenocortical tumors should, thus, be strongly considered as at genetic risk for Lynch syndrome.</description><subject>Cancer</subject><subject>Chemotherapy</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA methylation</subject><subject>DNA repair</subject><subject>Endometrium</subject><subject>Genes</subject><subject>Genomes</subject><subject>Immunohistochemistry</subject><subject>Mismatch repair</subject><subject>MLH1 protein</subject><subject>MSH2 protein</subject><subject>MSH6 protein</subject><subject>Mutation</subject><subject>Next-generation sequencing</subject><subject>p53 Protein</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Protein 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Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53</title><author>Brondani, Vania Balderrama ; Montenegro, Luciana ; Lacombe, Amanda Meneses Ferreira ; Magalhães, Breno Marchiori ; Nishi, Mirian Yumie ; Funari, Mariana Ferreira de Assis ; Narcizo, Amanda de Moraes ; Cardoso, Lais Cavalca ; Siqueira, Sheila Aparecida Coelho ; Zerbini, Maria Claudia Nogueira ; Denes, Francisco Tibor ; Latronico, Ana Claudia ; Mendonca, Berenice Bilharinho ; Almeida, Madson Queiroz ; Lerario, Antonio Marcondes ; Soares, Ibere Cauduro ; Fragoso, Maria Candida Barisson Villares</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c421t-87d9c4f3fd31e1f6d328073cdaa17f7b2be641b1d76926d427bd8fb585b628a63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Cancer</topic><topic>Chemotherapy</topic><topic>Deoxyribonucleic 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Tibor</au><au>Latronico, Ana Claudia</au><au>Mendonca, Berenice Bilharinho</au><au>Almeida, Madson Queiroz</au><au>Lerario, Antonio Marcondes</au><au>Soares, Ibere Cauduro</au><au>Fragoso, Maria Candida Barisson Villares</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53</atitle><jtitle>Cancers</jtitle><addtitle>Cancers (Basel)</addtitle><date>2020-03-07</date><risdate>2020</risdate><volume>12</volume><issue>3</issue><spage>621</spage><pages>621-</pages><issn>2072-6694</issn><eissn>2072-6694</eissn><abstract>Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the prevalence of alterations in DNA mismatch repair (MMR) genes in Lynch syndrome among pediatric patients with adrenocortical neoplasia from southern Brazil, where the prevalence of a specific
germline mutation (p.Arg337His) is quite high. Thirty-six pediatric patients were retrospectively evaluated. Immunohistochemistry (IHC) for the MMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumors were tested. In all of them, the expression of all evaluated MMR proteins was well-preserved. For NGS, 35 patients with pediatric tumor were tested. Three patients (8.57%) with the
p.Arg337His germline mutation presented pathogenic and likely pathogenic variants in the
genes (two in
and one in
). The prevalence of altered
genes among pediatric patients was elevated (8.57%) and higher than in colorectal and endometrial cancer cohorts. Pediatric patients with adrenocortical tumors should, thus, be strongly considered as at genetic risk for Lynch syndrome.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>32156018</pmid><doi>10.3390/cancers12030621</doi><orcidid>https://orcid.org/0000-0001-6383-4668</orcidid><orcidid>https://orcid.org/0000-0001-6603-3188</orcidid><orcidid>https://orcid.org/0000-0002-7408-9816</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2072-6694 |
| ispartof | Cancers, 2020-03, Vol.12 (3), p.621 |
| issn | 2072-6694 2072-6694 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7139318 |
| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central |
| subjects | Cancer Chemotherapy Deoxyribonucleic acid DNA DNA methylation DNA repair Endometrium Genes Genomes Immunohistochemistry Mismatch repair MLH1 protein MSH2 protein MSH6 protein Mutation Next-generation sequencing p53 Protein Patients Pediatrics Protein expression Tumorigenesis Tumors |
| title | High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-20T06%3A39%3A03IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=High%20Prevalence%20of%20Alterations%20in%20DNA%20Mismatch%20Repair%20Genes%20of%20Lynch%20Syndrome%20in%20Pediatric%20Patients%20with%20Adrenocortical%20Tumors%20Carrying%20a%20Germline%20Mutation%20on%20TP53&rft.jtitle=Cancers&rft.au=Brondani,%20Vania%20Balderrama&rft.date=2020-03-07&rft.volume=12&rft.issue=3&rft.spage=621&rft.pages=621-&rft.issn=2072-6694&rft.eissn=2072-6694&rft_id=info:doi/10.3390/cancers12030621&rft_dat=%3Cproquest_pubme%3E2376345936%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2376345936&rft_id=info:pmid/32156018&rfr_iscdi=true |