A new reciprocal translocation (12;22)(q24.3;q11.2–12) in a malignant rhabdoid tumor of the brain
We report a malignant rhabdoid tumor (MRT) of the brain with a novel reciprocal translocation, t(12;22)(q24.3;q11.2–12). Previous reports of chromosome abnormalities in MRTs were characterized either by monosomy or partial deletions of chromosome 22. An unbalanced translocation has been identified i...
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Veröffentlicht in: | Cancer genetics and cytogenetics 1998-02, Vol.101 (1), p.62-67 |
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creator | Sawyer, Jeffrey R. Goosen, Linda S. Swanson, Charles M. Tomita, Tadanori de Leon, Guillermo A. |
description | We report a malignant rhabdoid tumor (MRT) of the brain with a novel reciprocal translocation, t(12;22)(q24.3;q11.2–12). Previous reports of chromosome abnormalities in MRTs were characterized either by monosomy or partial deletions of chromosome 22. An unbalanced translocation has been identified in only a single case. To our knowledge, the present report is the first to describe a balanced reciprocal translocation in an MRT of the brain. The identification of this subtle translocotion further sublocalizes the chromosomal breakpoint on chromosome 22, and could be of potential diagnostic value in cerebral MRTs. |
doi_str_mv | 10.1016/S0165-4608(97)00225-2 |
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Previous reports of chromosome abnormalities in MRTs were characterized either by monosomy or partial deletions of chromosome 22. An unbalanced translocation has been identified in only a single case. To our knowledge, the present report is the first to describe a balanced reciprocal translocation in an MRT of the brain. The identification of this subtle translocotion further sublocalizes the chromosomal breakpoint on chromosome 22, and could be of potential diagnostic value in cerebral MRTs.</description><identifier>ISSN: 0165-4608</identifier><identifier>EISSN: 1873-4456</identifier><identifier>DOI: 10.1016/S0165-4608(97)00225-2</identifier><identifier>PMID: 9460503</identifier><identifier>CODEN: CGCYDF</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Biological and medical sciences ; Brain Neoplasms - genetics ; Brain Neoplasms - pathology ; Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 22 ; Humans ; Karyotyping ; Medical sciences ; Neurology ; Rhabdoid Tumor - genetics ; Rhabdoid Tumor - pathology ; Translocation, Genetic ; Tumors of the nervous system. 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Previous reports of chromosome abnormalities in MRTs were characterized either by monosomy or partial deletions of chromosome 22. An unbalanced translocation has been identified in only a single case. To our knowledge, the present report is the first to describe a balanced reciprocal translocation in an MRT of the brain. The identification of this subtle translocotion further sublocalizes the chromosomal breakpoint on chromosome 22, and could be of potential diagnostic value in cerebral MRTs.</description><subject>Biological and medical sciences</subject><subject>Brain Neoplasms - genetics</subject><subject>Brain Neoplasms - pathology</subject><subject>Child, Preschool</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 12</subject><subject>Chromosomes, Human, Pair 22</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>Rhabdoid Tumor - genetics</subject><subject>Rhabdoid Tumor - pathology</subject><subject>Translocation, Genetic</subject><subject>Tumors of the nervous system. 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Phacomatoses</topic><toplevel>online_resources</toplevel><creatorcontrib>Sawyer, Jeffrey R.</creatorcontrib><creatorcontrib>Goosen, Linda S.</creatorcontrib><creatorcontrib>Swanson, Charles M.</creatorcontrib><creatorcontrib>Tomita, Tadanori</creatorcontrib><creatorcontrib>de Leon, Guillermo A.</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>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Cancer genetics and cytogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sawyer, Jeffrey R.</au><au>Goosen, Linda S.</au><au>Swanson, Charles M.</au><au>Tomita, Tadanori</au><au>de Leon, Guillermo A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A new reciprocal translocation (12;22)(q24.3;q11.2–12) in a malignant rhabdoid tumor of the brain</atitle><jtitle>Cancer genetics and cytogenetics</jtitle><addtitle>Cancer Genet Cytogenet</addtitle><date>1998-02-01</date><risdate>1998</risdate><volume>101</volume><issue>1</issue><spage>62</spage><epage>67</epage><pages>62-67</pages><issn>0165-4608</issn><eissn>1873-4456</eissn><coden>CGCYDF</coden><abstract>We report a malignant rhabdoid tumor (MRT) of the brain with a novel reciprocal translocation, t(12;22)(q24.3;q11.2–12). Previous reports of chromosome abnormalities in MRTs were characterized either by monosomy or partial deletions of chromosome 22. An unbalanced translocation has been identified in only a single case. To our knowledge, the present report is the first to describe a balanced reciprocal translocation in an MRT of the brain. The identification of this subtle translocotion further sublocalizes the chromosomal breakpoint on chromosome 22, and could be of potential diagnostic value in cerebral MRTs.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>9460503</pmid><doi>10.1016/S0165-4608(97)00225-2</doi><tpages>6</tpages></addata></record> |
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subjects | Biological and medical sciences Brain Neoplasms - genetics Brain Neoplasms - pathology Child, Preschool Chromosome Banding Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 22 Humans Karyotyping Medical sciences Neurology Rhabdoid Tumor - genetics Rhabdoid Tumor - pathology Translocation, Genetic Tumors of the nervous system. Phacomatoses |
title | A new reciprocal translocation (12;22)(q24.3;q11.2–12) in a malignant rhabdoid tumor of the brain |
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