Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. Here we present affected children of cons...
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| Veröffentlicht in: | The Turkish journal of pediatrics 2021-09, Vol.63 (5), p.893-902 |
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| container_title | The Turkish journal of pediatrics |
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| creator | Özyörük, Derya Cabı, Emel Ünal Taçyıldız, Nurdan Pınarlı, Ferda Erdoğan, Ayşe Oğuz Hanalioğlu, Şahin Erdem, Arzu Yazal Demir, Arzu Meltem |
| description | Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children.
Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation.
We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children. |
| doi_str_mv | 10.24953/turkjped.2021.05.017 |
| format | Article |
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Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation.
We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.</description><identifier>ISSN: 0041-4301</identifier><identifier>EISSN: 2791-6421</identifier><identifier>DOI: 10.24953/turkjped.2021.05.017</identifier><identifier>PMID: 34738371</identifier><language>eng</language><publisher>Turkey: Hacettepe University Faculty of Medicine</publisher><subject>Brain Neoplasms ; Cafe-au-Lait Spots - diagnosis ; Cafe-au-Lait Spots - genetics ; Child ; Colorectal Neoplasms ; DNA-Binding Proteins ; Humans ; Immunotherapy ; Mismatch Repair Endonuclease PMS2 - genetics ; Mutation ; Neoplastic Syndromes, Hereditary ; Tumors ; Yeast</subject><ispartof>The Turkish journal of pediatrics, 2021-09, Vol.63 (5), p.893-902</ispartof><rights>Copyright Hacettepe University Faculty of Medicine Sep/Oct 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c351t-ce573f4676df7efb649d96b9734c1be9668712ee8ff62d0d3aecf9e06e32844f3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34738371$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Özyörük, Derya</creatorcontrib><creatorcontrib>Cabı, Emel Ünal</creatorcontrib><creatorcontrib>Taçyıldız, Nurdan</creatorcontrib><creatorcontrib>Pınarlı, Ferda</creatorcontrib><creatorcontrib>Erdoğan, Ayşe Oğuz</creatorcontrib><creatorcontrib>Hanalioğlu, Şahin</creatorcontrib><creatorcontrib>Erdem, Arzu Yazal</creatorcontrib><creatorcontrib>Demir, Arzu Meltem</creatorcontrib><title>Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature</title><title>The Turkish journal of pediatrics</title><addtitle>Turk J Pediatr</addtitle><description>Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children.
Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation.
We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.</description><subject>Brain Neoplasms</subject><subject>Cafe-au-Lait Spots - diagnosis</subject><subject>Cafe-au-Lait Spots - genetics</subject><subject>Child</subject><subject>Colorectal Neoplasms</subject><subject>DNA-Binding Proteins</subject><subject>Humans</subject><subject>Immunotherapy</subject><subject>Mismatch Repair Endonuclease PMS2 - genetics</subject><subject>Mutation</subject><subject>Neoplastic Syndromes, Hereditary</subject><subject>Tumors</subject><subject>Yeast</subject><issn>0041-4301</issn><issn>2791-6421</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNo1kcuOEzEQRS0EYjIDnwAqiXUHv9pOL1F4zEgZITGwbjl2mTik240fjMK38AN8Bz9GzyOrWtS9t1T3EPKK0SWXXSvelpp-7Cd0S045W9J2SZl-QhZcd6xRkrOnZEGpZI0UlJ2R85z3lHJNO_2cnAmpxUpotiB_1ma0mMCMDmwccwmllhBHc4DrkAdT7A6-4GRCgvfogw042iPk4-hSHBBcRSgRdnGIv4_fY81wfXMJCoZazF0MhBHsLhxcwhFuQ9nB2vh_f8FU2JhQ4GaKJd8fT_gr4C1ED4dQMJn5PXxBnnlzyPjycV6Qbx8_fF1fNpvPn67W7zaNFS0rjcVWCy-VVs5r9FslO9epbaeFtGyLnVIrzTjiynvFHXXCoPUdUoWCr6T04oK8ecidUvxZMZd-H2uaO8g9V3O7rJVMzar2QWVTzDmh76cUBpOOPaP9PZP-xKS_Y9LTtp-ZzL7Xj-l1O8y7k-sEQfwHSw-NyQ</recordid><startdate>20210901</startdate><enddate>20210901</enddate><creator>Özyörük, Derya</creator><creator>Cabı, Emel Ünal</creator><creator>Taçyıldız, Nurdan</creator><creator>Pınarlı, Ferda</creator><creator>Erdoğan, Ayşe Oğuz</creator><creator>Hanalioğlu, Şahin</creator><creator>Erdem, Arzu Yazal</creator><creator>Demir, Arzu Meltem</creator><general>Hacettepe University Faculty of Medicine</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>3V.</scope><scope>4T-</scope><scope>4U-</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>EDSIH</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope></search><sort><creationdate>20210901</creationdate><title>Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature</title><author>Özyörük, Derya ; Cabı, Emel Ünal ; Taçyıldız, Nurdan ; Pınarlı, Ferda ; Erdoğan, Ayşe Oğuz ; Hanalioğlu, Şahin ; Erdem, Arzu Yazal ; Demir, Arzu Meltem</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c351t-ce573f4676df7efb649d96b9734c1be9668712ee8ff62d0d3aecf9e06e32844f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Brain Neoplasms</topic><topic>Cafe-au-Lait Spots - diagnosis</topic><topic>Cafe-au-Lait Spots - genetics</topic><topic>Child</topic><topic>Colorectal Neoplasms</topic><topic>DNA-Binding Proteins</topic><topic>Humans</topic><topic>Immunotherapy</topic><topic>Mismatch Repair Endonuclease PMS2 - genetics</topic><topic>Mutation</topic><topic>Neoplastic Syndromes, Hereditary</topic><topic>Tumors</topic><topic>Yeast</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Özyörük, Derya</creatorcontrib><creatorcontrib>Cabı, Emel Ünal</creatorcontrib><creatorcontrib>Taçyıldız, Nurdan</creatorcontrib><creatorcontrib>Pınarlı, Ferda</creatorcontrib><creatorcontrib>Erdoğan, Ayşe Oğuz</creatorcontrib><creatorcontrib>Hanalioğlu, Şahin</creatorcontrib><creatorcontrib>Erdem, Arzu Yazal</creatorcontrib><creatorcontrib>Demir, Arzu Meltem</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Docstoc</collection><collection>University Readers</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Turkey Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><jtitle>The Turkish journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Özyörük, Derya</au><au>Cabı, Emel Ünal</au><au>Taçyıldız, Nurdan</au><au>Pınarlı, Ferda</au><au>Erdoğan, Ayşe Oğuz</au><au>Hanalioğlu, Şahin</au><au>Erdem, Arzu Yazal</au><au>Demir, Arzu Meltem</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature</atitle><jtitle>The Turkish journal of pediatrics</jtitle><addtitle>Turk J Pediatr</addtitle><date>2021-09-01</date><risdate>2021</risdate><volume>63</volume><issue>5</issue><spage>893</spage><epage>902</epage><pages>893-902</pages><issn>0041-4301</issn><eissn>2791-6421</eissn><abstract>Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children.
Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation.
We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.</abstract><cop>Turkey</cop><pub>Hacettepe University Faculty of Medicine</pub><pmid>34738371</pmid><doi>10.24953/turkjped.2021.05.017</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Brain Neoplasms Cafe-au-Lait Spots - diagnosis Cafe-au-Lait Spots - genetics Child Colorectal Neoplasms DNA-Binding Proteins Humans Immunotherapy Mismatch Repair Endonuclease PMS2 - genetics Mutation Neoplastic Syndromes, Hereditary Tumors Yeast |
| title | Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature |
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