Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia
The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) ha...
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| Veröffentlicht in: | Leukemia research 2006, Vol.30 (1), p.115-117 |
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| creator | Silva, Priscilla M.R. Lourenço, Gustavo J. Bognone, Rosemeire A.V. Delamain, Marcia T. Pinto-Junior, Walter Lima, Carmen S.P. |
| description | The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) has been described associated with the acceleration of disease or onset of blast crisis. We report on a patient with chronic phase of CML and both acquired t(9;22)(q34;q11) and inherited inv(16)(p13q22), who obtained a complete remission of the disease after bone marrow transplant. Therefore, it is worth to comment that an additional chromosomal abnormality in disease does not obligatory mean transformation of the disease to a more aggressive form, since chromosomal abnormalities are also seen in normal individuals. |
| doi_str_mv | 10.1016/j.leukres.2005.06.003 |
| format | Article |
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Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) has been described associated with the acceleration of disease or onset of blast crisis. We report on a patient with chronic phase of CML and both acquired t(9;22)(q34;q11) and inherited inv(16)(p13q22), who obtained a complete remission of the disease after bone marrow transplant. Therefore, it is worth to comment that an additional chromosomal abnormality in disease does not obligatory mean transformation of the disease to a more aggressive form, since chromosomal abnormalities are also seen in normal individuals.</description><identifier>ISSN: 0145-2126</identifier><identifier>EISSN: 1873-5835</identifier><identifier>DOI: 10.1016/j.leukres.2005.06.003</identifier><identifier>PMID: 16054690</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Acquired chromosomal abnormality ; Adult ; Blast Crisis - complications ; Blast Crisis - pathology ; Blast Crisis - therapy ; Bone Marrow Transplantation ; Chromosome Inversion ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Chronic myeloid leukaemia ; Female ; Genetic Diseases, Inborn - complications ; Genetic Diseases, Inborn - pathology ; Genetic Diseases, Inborn - therapy ; Humans ; Inherited chromosomal abnormality ; inv(p13q22) ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - complications ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - therapy ; Remission Induction ; t(9;22)(q34;q11) ; Translocation, Genetic</subject><ispartof>Leukemia research, 2006, Vol.30 (1), p.115-117</ispartof><rights>2005 Elsevier Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c363t-1714444733fe3af433adbd7efbe08251eebc3dbe3b053fb74a985b9c32b1401d3</citedby><cites>FETCH-LOGICAL-c363t-1714444733fe3af433adbd7efbe08251eebc3dbe3b053fb74a985b9c32b1401d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.leukres.2005.06.003$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,4012,27910,27911,27912,45982</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16054690$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Silva, Priscilla M.R.</creatorcontrib><creatorcontrib>Lourenço, Gustavo J.</creatorcontrib><creatorcontrib>Bognone, Rosemeire A.V.</creatorcontrib><creatorcontrib>Delamain, Marcia T.</creatorcontrib><creatorcontrib>Pinto-Junior, Walter</creatorcontrib><creatorcontrib>Lima, Carmen S.P.</creatorcontrib><title>Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia</title><title>Leukemia research</title><addtitle>Leuk Res</addtitle><description>The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) has been described associated with the acceleration of disease or onset of blast crisis. We report on a patient with chronic phase of CML and both acquired t(9;22)(q34;q11) and inherited inv(16)(p13q22), who obtained a complete remission of the disease after bone marrow transplant. Therefore, it is worth to comment that an additional chromosomal abnormality in disease does not obligatory mean transformation of the disease to a more aggressive form, since chromosomal abnormalities are also seen in normal individuals.</description><subject>Acquired chromosomal abnormality</subject><subject>Adult</subject><subject>Blast Crisis - complications</subject><subject>Blast Crisis - pathology</subject><subject>Blast Crisis - therapy</subject><subject>Bone Marrow Transplantation</subject><subject>Chromosome Inversion</subject><subject>Chromosomes, Human, Pair 16</subject><subject>Chromosomes, Human, Pair 22</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Chronic myeloid leukaemia</subject><subject>Female</subject><subject>Genetic Diseases, Inborn - complications</subject><subject>Genetic Diseases, Inborn - pathology</subject><subject>Genetic Diseases, Inborn - therapy</subject><subject>Humans</subject><subject>Inherited chromosomal abnormality</subject><subject>inv(p13q22)</subject><subject>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - complications</subject><subject>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology</subject><subject>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - therapy</subject><subject>Remission Induction</subject><subject>t(9;22)(q34;q11)</subject><subject>Translocation, Genetic</subject><issn>0145-2126</issn><issn>1873-5835</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1P3DAQQK0KVBban9AqJ24J40zsJCdUobYgIXGBK5Y_Jlpvk3ixs0j8e7zdrXpkDjPS-I3Hfox941Bx4PJqU420-xMpVTWAqEBWAPiJrXjXYik6FCdsBbwRZc1recbOU9pABnvef2ZnXIJoZA8r9nw3ryn6hVyxzdXSvORc-PmVYvJhLsJQ2HUMU0hhooLLfPS3MWdqu9aJ_hH7xvRGY_Cu2D9N0-T1F3Y66DHR12O9YE-_fj7e3Jb3D7_vbn7clxYlLiVveZOjRRwI9dAgamdcS4Mh6GrBiYxFZwgNCBxM2-i-E6a3WBveAHd4wS4P925jeNlRWtTkk6Vx1DOFXVIt8E52iBkUB9DGkFKkQW2jn3R8UxzUXqzaqKNYtRerQKosNs99Py7YmYnc_6mjyQxcHwDK33z1FFWynmZLzkeyi3LBf7DiHZnnjfI</recordid><startdate>2006</startdate><enddate>2006</enddate><creator>Silva, Priscilla M.R.</creator><creator>Lourenço, Gustavo J.</creator><creator>Bognone, Rosemeire A.V.</creator><creator>Delamain, Marcia T.</creator><creator>Pinto-Junior, Walter</creator><creator>Lima, Carmen S.P.</creator><general>Elsevier Ltd</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></search><sort><creationdate>2006</creationdate><title>Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia</title><author>Silva, Priscilla M.R. ; Lourenço, Gustavo J. ; Bognone, Rosemeire A.V. ; Delamain, Marcia T. ; Pinto-Junior, Walter ; Lima, Carmen S.P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c363t-1714444733fe3af433adbd7efbe08251eebc3dbe3b053fb74a985b9c32b1401d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Acquired chromosomal abnormality</topic><topic>Adult</topic><topic>Blast Crisis - complications</topic><topic>Blast Crisis - pathology</topic><topic>Blast Crisis - therapy</topic><topic>Bone Marrow Transplantation</topic><topic>Chromosome Inversion</topic><topic>Chromosomes, Human, Pair 16</topic><topic>Chromosomes, Human, Pair 22</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Chronic myeloid leukaemia</topic><topic>Female</topic><topic>Genetic Diseases, Inborn - complications</topic><topic>Genetic Diseases, Inborn - pathology</topic><topic>Genetic Diseases, Inborn - therapy</topic><topic>Humans</topic><topic>Inherited chromosomal abnormality</topic><topic>inv(p13q22)</topic><topic>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - complications</topic><topic>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology</topic><topic>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - therapy</topic><topic>Remission Induction</topic><topic>t(9;22)(q34;q11)</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Silva, Priscilla M.R.</creatorcontrib><creatorcontrib>Lourenço, Gustavo J.</creatorcontrib><creatorcontrib>Bognone, Rosemeire A.V.</creatorcontrib><creatorcontrib>Delamain, Marcia T.</creatorcontrib><creatorcontrib>Pinto-Junior, Walter</creatorcontrib><creatorcontrib>Lima, Carmen S.P.</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><jtitle>Leukemia research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Silva, Priscilla M.R.</au><au>Lourenço, Gustavo J.</au><au>Bognone, Rosemeire A.V.</au><au>Delamain, Marcia T.</au><au>Pinto-Junior, Walter</au><au>Lima, Carmen S.P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia</atitle><jtitle>Leukemia research</jtitle><addtitle>Leuk Res</addtitle><date>2006</date><risdate>2006</risdate><volume>30</volume><issue>1</issue><spage>115</spage><epage>117</epage><pages>115-117</pages><issn>0145-2126</issn><eissn>1873-5835</eissn><abstract>The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) has been described associated with the acceleration of disease or onset of blast crisis. We report on a patient with chronic phase of CML and both acquired t(9;22)(q34;q11) and inherited inv(16)(p13q22), who obtained a complete remission of the disease after bone marrow transplant. Therefore, it is worth to comment that an additional chromosomal abnormality in disease does not obligatory mean transformation of the disease to a more aggressive form, since chromosomal abnormalities are also seen in normal individuals.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>16054690</pmid><doi>10.1016/j.leukres.2005.06.003</doi><tpages>3</tpages></addata></record> |
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| ispartof | Leukemia research, 2006, Vol.30 (1), p.115-117 |
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| subjects | Acquired chromosomal abnormality Adult Blast Crisis - complications Blast Crisis - pathology Blast Crisis - therapy Bone Marrow Transplantation Chromosome Inversion Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 9 Chronic myeloid leukaemia Female Genetic Diseases, Inborn - complications Genetic Diseases, Inborn - pathology Genetic Diseases, Inborn - therapy Humans Inherited chromosomal abnormality inv(p13q22) Leukemia, Myelogenous, Chronic, BCR-ABL Positive - complications Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology Leukemia, Myelogenous, Chronic, BCR-ABL Positive - therapy Remission Induction t(9 22)(q34 q11) Translocation, Genetic |
| title | Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia |
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