Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients
Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40–60% of de novo myelodysplastic syndromes (MDSs). Fluorescence in situ hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typic...
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| Veröffentlicht in: | Leukemia 2003-11, Vol.17 (11), p.2107-2112 |
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| creator | Bernasconi, P Cavigliano, P M Boni, M Calatroni, S Klersy, C Giardini, I Rocca, B Crosetto, N Caresana, M Lazzarino, M Bernasconi, C |
| description | Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40–60% of
de novo
myelodysplastic syndromes (MDSs). Fluorescence
in situ
hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18–28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (
P |
| doi_str_mv | 10.1038/sj.leu.2403108 |
| format | Article |
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de novo
myelodysplastic syndromes (MDSs). Fluorescence
in situ
hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18–28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (
P
<10
−3
) and IPSS (
P
<10
−3
). Patients with an occult abnormality showed an overall survival and event-free survival significantly inferior in comparison to those of patients with normal FISH (
P
<10
−3
,
P
<10
−3
). Death and AML progression were 15- and eight-fold more frequent in FISH abnormal patients. In conclusion, occult defects (1) are revealed in about 15% of CC normal MDS patients, (2) are overlooked by CC either because of the poor quality of metaphases or their submicroscopic nature, (3) are clinically relevant as they may cause a change in the IPSS category and may identify a fraction of CC normal patients with an unfavorable clinical outcome.</description><identifier>ISSN: 0887-6924</identifier><identifier>EISSN: 1476-5551</identifier><identifier>DOI: 10.1038/sj.leu.2403108</identifier><identifier>PMID: 12931223</identifier><identifier>CODEN: LEUKED</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Cancer Research ; Chromosome Aberrations ; Chromosome Mapping ; Chromosomes ; Critical Care Medicine ; Cytogenetics ; Diagnosis ; Disease Progression ; Disorders ; Female ; Fluorescence ; Fluorescence in situ hybridization ; Hematologic and hematopoietic diseases ; Hematology ; Humans ; In Situ Hybridization, Fluorescence ; Intensive ; Internal Medicine ; Karyotypes ; Karyotyping ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Metaphase ; Middle Aged ; Myelodysplastic syndrome ; Myelodysplastic syndromes ; Myelodysplastic Syndromes - genetics ; Myelodysplastic Syndromes - therapy ; Oncology ; original-manuscript ; Patients ; Prognosis ; Proportional Hazards Models ; Reference Values ; Survival ; Treatment Outcome</subject><ispartof>Leukemia, 2003-11, Vol.17 (11), p.2107-2112</ispartof><rights>Springer Nature Limited 2003</rights><rights>2004 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Nov 2003</rights><rights>Nature Publishing Group 2003.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c511t-9ecb9191b02349af80e3d89cf14ce05e95c13aabdda27dcb2aea3ac9c833ca103</citedby><cites>FETCH-LOGICAL-c511t-9ecb9191b02349af80e3d89cf14ce05e95c13aabdda27dcb2aea3ac9c833ca103</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.leu.2403108$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.leu.2403108$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,778,782,27907,27908,41471,42540,51302</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15232806$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12931223$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bernasconi, P</creatorcontrib><creatorcontrib>Cavigliano, P M</creatorcontrib><creatorcontrib>Boni, M</creatorcontrib><creatorcontrib>Calatroni, S</creatorcontrib><creatorcontrib>Klersy, C</creatorcontrib><creatorcontrib>Giardini, I</creatorcontrib><creatorcontrib>Rocca, B</creatorcontrib><creatorcontrib>Crosetto, N</creatorcontrib><creatorcontrib>Caresana, M</creatorcontrib><creatorcontrib>Lazzarino, M</creatorcontrib><creatorcontrib>Bernasconi, C</creatorcontrib><title>Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients</title><title>Leukemia</title><addtitle>Leukemia</addtitle><addtitle>Leukemia</addtitle><description>Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40–60% of
de novo
myelodysplastic syndromes (MDSs). Fluorescence
in situ
hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18–28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (
P
<10
−3
) and IPSS (
P
<10
−3
). Patients with an occult abnormality showed an overall survival and event-free survival significantly inferior in comparison to those of patients with normal FISH (
P
<10
−3
,
P
<10
−3
). Death and AML progression were 15- and eight-fold more frequent in FISH abnormal patients. In conclusion, occult defects (1) are revealed in about 15% of CC normal MDS patients, (2) are overlooked by CC either because of the poor quality of metaphases or their submicroscopic nature, (3) are clinically relevant as they may cause a change in the IPSS category and may identify a fraction of CC normal patients with an unfavorable clinical outcome.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Cancer Research</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Mapping</subject><subject>Chromosomes</subject><subject>Critical Care Medicine</subject><subject>Cytogenetics</subject><subject>Diagnosis</subject><subject>Disease Progression</subject><subject>Disorders</subject><subject>Female</subject><subject>Fluorescence</subject><subject>Fluorescence in situ hybridization</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematology</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Intensive</subject><subject>Internal Medicine</subject><subject>Karyotypes</subject><subject>Karyotyping</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metaphase</subject><subject>Middle Aged</subject><subject>Myelodysplastic syndrome</subject><subject>Myelodysplastic syndromes</subject><subject>Myelodysplastic Syndromes - genetics</subject><subject>Myelodysplastic Syndromes - therapy</subject><subject>Oncology</subject><subject>original-manuscript</subject><subject>Patients</subject><subject>Prognosis</subject><subject>Proportional Hazards Models</subject><subject>Reference Values</subject><subject>Survival</subject><subject>Treatment Outcome</subject><issn>0887-6924</issn><issn>1476-5551</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkV-L1DAUxYso7rj66psSFH2b2fxp2uZJlsV1BxZ8UJ9Lmt7OdkiTMTdd6Qfx-5o61QFh8Slwz--c5OZk2UtGN4yK6gL3GwvjhudUMFo9ylYsL4u1lJI9zla0qsp1oXh-lj1D3FM6i8XT7IxxJRjnYpX93CK53n65IZoEsHCvXSSH4HfOY-wNid5b0jsyTGB9O-HB6t9znFwb_ABIfvTxLpmdD4O2xNylqcekkIOOEYIj3hHj3T242Hs3I1P0O3CQYvADuSQYx3aaKVnOnj6B-Dx70mmL8GI5z7Nv1x-_Xt2sbz9_2l5d3q6NZCyuFZhGMcUaykWudFdREG2lTMdyA1SCkoYJrZu21bxsTcM1aKGNMpUQRqf_O8_eH3PTyt9HwFgPPRqwVjvwI9YlE4yVPP8vyFT6TcmrBL79B9z7MaS9seZFLlMgFTxRbx6kOJUytcQStDlCJnjEAF19CP2gw1QzWs_l17ivU_n1Un4yvF5Sx2aA9oQvbSfg3QJoNNp2QTvT44mTXPCKFom7OHKYJLeDcHreg1e_OjqcjmOAv5F_9F_3i9Pi</recordid><startdate>20031101</startdate><enddate>20031101</enddate><creator>Bernasconi, P</creator><creator>Cavigliano, P M</creator><creator>Boni, M</creator><creator>Calatroni, S</creator><creator>Klersy, C</creator><creator>Giardini, I</creator><creator>Rocca, B</creator><creator>Crosetto, N</creator><creator>Caresana, M</creator><creator>Lazzarino, M</creator><creator>Bernasconi, C</creator><general>Nature Publishing Group UK</general><general>Nature Publishing</general><general>Nature Publishing Group</general><scope>IQODW</scope><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>7QL</scope><scope>7RV</scope><scope>7T5</scope><scope>7T7</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20031101</creationdate><title>Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients</title><author>Bernasconi, P ; Cavigliano, P M ; Boni, M ; Calatroni, S ; Klersy, C ; Giardini, I ; Rocca, B ; Crosetto, N ; Caresana, M ; Lazzarino, M ; Bernasconi, C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c511t-9ecb9191b02349af80e3d89cf14ce05e95c13aabdda27dcb2aea3ac9c833ca103</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Cancer Research</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Mapping</topic><topic>Chromosomes</topic><topic>Critical Care Medicine</topic><topic>Cytogenetics</topic><topic>Diagnosis</topic><topic>Disease Progression</topic><topic>Disorders</topic><topic>Female</topic><topic>Fluorescence</topic><topic>Fluorescence in situ hybridization</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hematology</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Intensive</topic><topic>Internal Medicine</topic><topic>Karyotypes</topic><topic>Karyotyping</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metaphase</topic><topic>Middle Aged</topic><topic>Myelodysplastic syndrome</topic><topic>Myelodysplastic syndromes</topic><topic>Myelodysplastic Syndromes - genetics</topic><topic>Myelodysplastic Syndromes - therapy</topic><topic>Oncology</topic><topic>original-manuscript</topic><topic>Patients</topic><topic>Prognosis</topic><topic>Proportional Hazards Models</topic><topic>Reference Values</topic><topic>Survival</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bernasconi, P</creatorcontrib><creatorcontrib>Cavigliano, P M</creatorcontrib><creatorcontrib>Boni, M</creatorcontrib><creatorcontrib>Calatroni, S</creatorcontrib><creatorcontrib>Klersy, C</creatorcontrib><creatorcontrib>Giardini, I</creatorcontrib><creatorcontrib>Rocca, B</creatorcontrib><creatorcontrib>Crosetto, N</creatorcontrib><creatorcontrib>Caresana, M</creatorcontrib><creatorcontrib>Lazzarino, M</creatorcontrib><creatorcontrib>Bernasconi, C</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>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Nursing & Allied Health Database</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</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>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection (ProQuest)</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</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>MEDLINE - Academic</collection><jtitle>Leukemia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bernasconi, P</au><au>Cavigliano, P M</au><au>Boni, M</au><au>Calatroni, S</au><au>Klersy, C</au><au>Giardini, I</au><au>Rocca, B</au><au>Crosetto, N</au><au>Caresana, M</au><au>Lazzarino, M</au><au>Bernasconi, C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients</atitle><jtitle>Leukemia</jtitle><stitle>Leukemia</stitle><addtitle>Leukemia</addtitle><date>2003-11-01</date><risdate>2003</risdate><volume>17</volume><issue>11</issue><spage>2107</spage><epage>2112</epage><pages>2107-2112</pages><issn>0887-6924</issn><eissn>1476-5551</eissn><coden>LEUKED</coden><abstract>Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40–60% of
de novo
myelodysplastic syndromes (MDSs). Fluorescence
in situ
hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18–28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (
P
<10
−3
) and IPSS (
P
<10
−3
). Patients with an occult abnormality showed an overall survival and event-free survival significantly inferior in comparison to those of patients with normal FISH (
P
<10
−3
,
P
<10
−3
). Death and AML progression were 15- and eight-fold more frequent in FISH abnormal patients. In conclusion, occult defects (1) are revealed in about 15% of CC normal MDS patients, (2) are overlooked by CC either because of the poor quality of metaphases or their submicroscopic nature, (3) are clinically relevant as they may cause a change in the IPSS category and may identify a fraction of CC normal patients with an unfavorable clinical outcome.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>12931223</pmid><doi>10.1038/sj.leu.2403108</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Nature; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Springer Nature - Complete Springer Journals |
| subjects | Adult Aged Aged, 80 and over Biological and medical sciences Cancer Research Chromosome Aberrations Chromosome Mapping Chromosomes Critical Care Medicine Cytogenetics Diagnosis Disease Progression Disorders Female Fluorescence Fluorescence in situ hybridization Hematologic and hematopoietic diseases Hematology Humans In Situ Hybridization, Fluorescence Intensive Internal Medicine Karyotypes Karyotyping Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Male Medical sciences Medicine Medicine & Public Health Metaphase Middle Aged Myelodysplastic syndrome Myelodysplastic syndromes Myelodysplastic Syndromes - genetics Myelodysplastic Syndromes - therapy Oncology original-manuscript Patients Prognosis Proportional Hazards Models Reference Values Survival Treatment Outcome |
| title | Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients |
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