Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas
Inherited mutations of the RET proto-oncogene are tumorigenic in patients with multiple endocrine neoplasia type 2 (MEN 2). However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patien...
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| Veröffentlicht in: | Cancer research (Chicago, Ill.) Ill.), 2000-11, Vol.60 (22), p.6223-6226 |
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| creator | HUANG, Steve C KOCH, Christian A ZHENGPING ZHUANG VORTMEYER, Alexander O PACK, Svetlana D LICHTENAUER, Urs D MANNAN, Poonam LUBENSKY, Irina A CHROUSOS, George P GAGEL, Robert F PACAK, Karel |
| description | Inherited mutations of the RET proto-oncogene are tumorigenic in patients with multiple endocrine neoplasia type 2 (MEN 2). However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patients with MEN 2 showed either duplication of the mutant RET allele in trisomy 10 or loss of the wild-type RET allele. Our results suggest a "second hit" causing a dominant effect of the mutant RET allele, through either duplication of the mutant allele or loss of the wild-type allele, as a possible mechanism for pheochromocytoma tumorigenesis in patients with MEN 2. |
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However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patients with MEN 2 showed either duplication of the mutant RET allele in trisomy 10 or loss of the wild-type RET allele. Our results suggest a "second hit" causing a dominant effect of the mutant RET allele, through either duplication of the mutant allele or loss of the wild-type allele, as a possible mechanism for pheochromocytoma tumorigenesis in patients with MEN 2.</description><identifier>ISSN: 0008-5472</identifier><identifier>EISSN: 1538-7445</identifier><identifier>PMID: 11103773</identifier><identifier>CODEN: CNREA8</identifier><language>eng</language><publisher>Philadelphia, PA: American Association for Cancer Research</publisher><subject>Adrenal Gland Neoplasms - genetics ; Alleles ; Biological and medical sciences ; chromosome 10 ; Chromosomes, Human, Pair 10 ; DNA, Neoplasm - blood ; DNA, Neoplasm - genetics ; Drosophila Proteins ; Endocrinopathies ; Gene Expression Regulation, Neoplastic ; General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes ; Germ-Line Mutation ; Humans ; In Situ Hybridization, Fluorescence ; Loss of Heterozygosity ; Medical sciences ; multiple endocrine neoplasia ; multiple endocrine neoplasia 2 ; Multiple Endocrine Neoplasia Type 2a - genetics ; Neurology ; pheochromocytoma ; Pheochromocytoma - genetics ; Proto-Oncogene Proteins - genetics ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases - genetics ; RET gene ; Trisomy ; Tumors of the nervous system. Phacomatoses</subject><ispartof>Cancer research (Chicago, Ill.), 2000-11, Vol.60 (22), p.6223-6226</ispartof><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=835513$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11103773$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HUANG, Steve C</creatorcontrib><creatorcontrib>KOCH, Christian A</creatorcontrib><creatorcontrib>ZHENGPING ZHUANG</creatorcontrib><creatorcontrib>VORTMEYER, Alexander O</creatorcontrib><creatorcontrib>PACK, Svetlana D</creatorcontrib><creatorcontrib>LICHTENAUER, Urs D</creatorcontrib><creatorcontrib>MANNAN, Poonam</creatorcontrib><creatorcontrib>LUBENSKY, Irina A</creatorcontrib><creatorcontrib>CHROUSOS, George P</creatorcontrib><creatorcontrib>GAGEL, Robert F</creatorcontrib><creatorcontrib>PACAK, Karel</creatorcontrib><title>Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas</title><title>Cancer research (Chicago, Ill.)</title><addtitle>Cancer Res</addtitle><description>Inherited mutations of the RET proto-oncogene are tumorigenic in patients with multiple endocrine neoplasia type 2 (MEN 2). However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patients with MEN 2 showed either duplication of the mutant RET allele in trisomy 10 or loss of the wild-type RET allele. Our results suggest a "second hit" causing a dominant effect of the mutant RET allele, through either duplication of the mutant allele or loss of the wild-type allele, as a possible mechanism for pheochromocytoma tumorigenesis in patients with MEN 2.</description><subject>Adrenal Gland Neoplasms - genetics</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>chromosome 10</subject><subject>Chromosomes, Human, Pair 10</subject><subject>DNA, Neoplasm - blood</subject><subject>DNA, Neoplasm - genetics</subject><subject>Drosophila Proteins</subject><subject>Endocrinopathies</subject><subject>Gene Expression Regulation, Neoplastic</subject><subject>General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Loss of Heterozygosity</subject><subject>Medical sciences</subject><subject>multiple endocrine neoplasia</subject><subject>multiple endocrine neoplasia 2</subject><subject>Multiple Endocrine Neoplasia Type 2a - genetics</subject><subject>Neurology</subject><subject>pheochromocytoma</subject><subject>Pheochromocytoma - genetics</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Proto-Oncogene Proteins c-ret</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>RET gene</subject><subject>Trisomy</subject><subject>Tumors of the nervous system. Phacomatoses</subject><issn>0008-5472</issn><issn>1538-7445</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0M9KxDAQBvAiiruuvoIEBG-FpEma9ijr-gcWBFnPJU2mNJI0tUmRvojPa9Vd8eZpvoEfH8McJUvCaZEKxvhxssQYFylnIlskZyG8zisnmJ8mC0IIpkLQZfJxO_bWKBmN75BvUGwBuTHKLqLnzQ5Ja8ECMh2KgwneTYhg5AdkfQgH_m6sTuPUwx_tRhtNP2fotFeD6QB14Hsrg5Ho22apDMErIyNo1LfgVTt459UUvZPhPDlppA1wsZ-r5OVus1s_pNun-8f1zTZtKcYx1bjmmWIF4bkATepGs6zAWNAMOAGNG8HzGmqm8wIUk6QsmCYlIyVRnGeipqvk-qe3H_zbCCFWzgQF1sr53DFUImM0FxT_C4koyVf9DC_3cKwd6KofjJPDVB1ePoOrPZBBSdsMslMm_LqCck4o_QTZz4wg</recordid><startdate>20001115</startdate><enddate>20001115</enddate><creator>HUANG, Steve C</creator><creator>KOCH, Christian A</creator><creator>ZHENGPING ZHUANG</creator><creator>VORTMEYER, Alexander O</creator><creator>PACK, Svetlana D</creator><creator>LICHTENAUER, Urs D</creator><creator>MANNAN, Poonam</creator><creator>LUBENSKY, Irina A</creator><creator>CHROUSOS, George P</creator><creator>GAGEL, Robert F</creator><creator>PACAK, Karel</creator><general>American Association for Cancer Research</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20001115</creationdate><title>Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas</title><author>HUANG, Steve C ; KOCH, Christian A ; ZHENGPING ZHUANG ; VORTMEYER, Alexander O ; PACK, Svetlana D ; LICHTENAUER, Urs D ; MANNAN, Poonam ; LUBENSKY, Irina A ; CHROUSOS, George P ; GAGEL, Robert F ; PACAK, Karel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h300t-d0b52c481567ed1bfd42800732e51ed0f756beb4d68ec4a1984d194191c5527b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adrenal Gland Neoplasms - genetics</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>chromosome 10</topic><topic>Chromosomes, Human, Pair 10</topic><topic>DNA, Neoplasm - blood</topic><topic>DNA, Neoplasm - genetics</topic><topic>Drosophila Proteins</topic><topic>Endocrinopathies</topic><topic>Gene Expression Regulation, Neoplastic</topic><topic>General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Loss of Heterozygosity</topic><topic>Medical sciences</topic><topic>multiple endocrine neoplasia</topic><topic>multiple endocrine neoplasia 2</topic><topic>Multiple Endocrine Neoplasia Type 2a - genetics</topic><topic>Neurology</topic><topic>pheochromocytoma</topic><topic>Pheochromocytoma - genetics</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Proto-Oncogene Proteins c-ret</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>RET gene</topic><topic>Trisomy</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HUANG, Steve C</creatorcontrib><creatorcontrib>KOCH, Christian A</creatorcontrib><creatorcontrib>ZHENGPING ZHUANG</creatorcontrib><creatorcontrib>VORTMEYER, Alexander O</creatorcontrib><creatorcontrib>PACK, Svetlana D</creatorcontrib><creatorcontrib>LICHTENAUER, Urs D</creatorcontrib><creatorcontrib>MANNAN, Poonam</creatorcontrib><creatorcontrib>LUBENSKY, Irina A</creatorcontrib><creatorcontrib>CHROUSOS, George P</creatorcontrib><creatorcontrib>GAGEL, Robert F</creatorcontrib><creatorcontrib>PACAK, Karel</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cancer research (Chicago, Ill.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HUANG, Steve C</au><au>KOCH, Christian A</au><au>ZHENGPING ZHUANG</au><au>VORTMEYER, Alexander O</au><au>PACK, Svetlana D</au><au>LICHTENAUER, Urs D</au><au>MANNAN, Poonam</au><au>LUBENSKY, Irina A</au><au>CHROUSOS, George P</au><au>GAGEL, Robert F</au><au>PACAK, Karel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas</atitle><jtitle>Cancer research (Chicago, Ill.)</jtitle><addtitle>Cancer Res</addtitle><date>2000-11-15</date><risdate>2000</risdate><volume>60</volume><issue>22</issue><spage>6223</spage><epage>6226</epage><pages>6223-6226</pages><issn>0008-5472</issn><eissn>1538-7445</eissn><coden>CNREA8</coden><abstract>Inherited mutations of the RET proto-oncogene are tumorigenic in patients with multiple endocrine neoplasia type 2 (MEN 2). However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patients with MEN 2 showed either duplication of the mutant RET allele in trisomy 10 or loss of the wild-type RET allele. Our results suggest a "second hit" causing a dominant effect of the mutant RET allele, through either duplication of the mutant allele or loss of the wild-type allele, as a possible mechanism for pheochromocytoma tumorigenesis in patients with MEN 2.</abstract><cop>Philadelphia, PA</cop><pub>American Association for Cancer Research</pub><pmid>11103773</pmid><tpages>4</tpages></addata></record> |
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| subjects | Adrenal Gland Neoplasms - genetics Alleles Biological and medical sciences chromosome 10 Chromosomes, Human, Pair 10 DNA, Neoplasm - blood DNA, Neoplasm - genetics Drosophila Proteins Endocrinopathies Gene Expression Regulation, Neoplastic General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes Germ-Line Mutation Humans In Situ Hybridization, Fluorescence Loss of Heterozygosity Medical sciences multiple endocrine neoplasia multiple endocrine neoplasia 2 Multiple Endocrine Neoplasia Type 2a - genetics Neurology pheochromocytoma Pheochromocytoma - genetics Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases - genetics RET gene Trisomy Tumors of the nervous system. Phacomatoses |
| title | Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas |
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