Eintrag weiter verarbeiten
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features
Gespeichert in:
| Zeitschriftentitel: | Blood |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , |
| In: | Blood, 114, 2009, 14, S. 3024-3032 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
American Society of Hematology
|
| Schlagwörter: |
| author_facet |
Haferlach, Claudia Mecucci, Cristina Schnittger, Susanne Kohlmann, Alexander Mancini, Marco Cuneo, Antonio Testoni, Nicoletta Rege-Cambrin, Giovanna Santucci, Antonella Vignetti, Marco Fazi, Paola Martelli, Maria Paola Haferlach, Torsten Falini, Brunangelo Haferlach, Claudia Mecucci, Cristina Schnittger, Susanne Kohlmann, Alexander Mancini, Marco Cuneo, Antonio Testoni, Nicoletta Rege-Cambrin, Giovanna Santucci, Antonella Vignetti, Marco Fazi, Paola Martelli, Maria Paola Haferlach, Torsten Falini, Brunangelo |
|---|---|
| author |
Haferlach, Claudia Mecucci, Cristina Schnittger, Susanne Kohlmann, Alexander Mancini, Marco Cuneo, Antonio Testoni, Nicoletta Rege-Cambrin, Giovanna Santucci, Antonella Vignetti, Marco Fazi, Paola Martelli, Maria Paola Haferlach, Torsten Falini, Brunangelo |
| spellingShingle |
Haferlach, Claudia Mecucci, Cristina Schnittger, Susanne Kohlmann, Alexander Mancini, Marco Cuneo, Antonio Testoni, Nicoletta Rege-Cambrin, Giovanna Santucci, Antonella Vignetti, Marco Fazi, Paola Martelli, Maria Paola Haferlach, Torsten Falini, Brunangelo Blood AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features Cell Biology Hematology Immunology Biochemistry |
| author_sort |
haferlach, claudia |
| spelling |
Haferlach, Claudia Mecucci, Cristina Schnittger, Susanne Kohlmann, Alexander Mancini, Marco Cuneo, Antonio Testoni, Nicoletta Rege-Cambrin, Giovanna Santucci, Antonella Vignetti, Marco Fazi, Paola Martelli, Maria Paola Haferlach, Torsten Falini, Brunangelo 0006-4971 1528-0020 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood-2009-01-197871 <jats:p>Acute myeloid leukemia (AML) with mutated NPM1 usually carries normal karyotype (NK), but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93 of 631 cases (14.7%), the most frequent abnormalities being +8, +4, −Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. Four of the 31 NPM1-mutated AML patients karyotyped at different time points had NK at diagnosis but AK at relapse: del(9q) (n = 2), t(2;11) (n = 1), inv(12) (n = 1). NPM1-mutated AML with NK or AK showed overlapping morphologic, immunophenotypic (CD34 negativity), and gene expression profile (down-regulation of CD34 and up-regulation of HOX genes). No difference in survival was observed among NPM1-mutated AML patients independently of whether they carried a NK or an AK, the NPM1-mutated/FLT3-ITD negative cases showing the better prognosis. Findings in our patients point to chromosomal aberrations as secondary events, reinforce the concept that NPM1 mutation is a founder genetic lesion, and indicate that NPM1-mutated AML should be clinically handled as one entity, irrespective of the karyotype.</jats:p> AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features Blood |
| doi_str_mv |
10.1182/blood-2009-01-197871 |
| facet_avail |
Online Free |
| finc_class_facet |
Biologie Medizin Chemie und Pharmazie |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTE4Mi9ibG9vZC0yMDA5LTAxLTE5Nzg3MQ |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTE4Mi9ibG9vZC0yMDA5LTAxLTE5Nzg3MQ |
| institution |
DE-Zi4 DE-Gla1 DE-15 DE-Pl11 DE-Rs1 DE-14 DE-105 DE-Ch1 DE-L229 DE-D275 DE-Bn3 DE-Brt1 DE-Zwi2 DE-D161 |
| imprint |
American Society of Hematology, 2009 |
| imprint_str_mv |
American Society of Hematology, 2009 |
| issn |
0006-4971 1528-0020 |
| issn_str_mv |
0006-4971 1528-0020 |
| language |
English |
| mega_collection |
American Society of Hematology (CrossRef) |
| match_str |
haferlach2009amlwithmutatednpm1carryinganormaloraberrantkaryotypeshowoverlappingbiologicpathologicimmunophenotypicandprognosticfeatures |
| publishDateSort |
2009 |
| publisher |
American Society of Hematology |
| recordtype |
ai |
| record_format |
ai |
| series |
Blood |
| source_id |
49 |
| title |
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_unstemmed |
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_full |
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_fullStr |
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_full_unstemmed |
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_short |
AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_sort |
aml with mutated npm1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| topic |
Cell Biology Hematology Immunology Biochemistry |
| url |
http://dx.doi.org/10.1182/blood-2009-01-197871 |
| publishDate |
2009 |
| physical |
3024-3032 |
| description |
<jats:p>Acute myeloid leukemia (AML) with mutated NPM1 usually carries normal karyotype (NK), but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93 of 631 cases (14.7%), the most frequent abnormalities being +8, +4, −Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. Four of the 31 NPM1-mutated AML patients karyotyped at different time points had NK at diagnosis but AK at relapse: del(9q) (n = 2), t(2;11) (n = 1), inv(12) (n = 1). NPM1-mutated AML with NK or AK showed overlapping morphologic, immunophenotypic (CD34 negativity), and gene expression profile (down-regulation of CD34 and up-regulation of HOX genes). No difference in survival was observed among NPM1-mutated AML patients independently of whether they carried a NK or an AK, the NPM1-mutated/FLT3-ITD negative cases showing the better prognosis. Findings in our patients point to chromosomal aberrations as secondary events, reinforce the concept that NPM1 mutation is a founder genetic lesion, and indicate that NPM1-mutated AML should be clinically handled as one entity, irrespective of the karyotype.</jats:p> |
| container_issue |
14 |
| container_start_page |
3024 |
| container_title |
Blood |
| container_volume |
114 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792343108945444866 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T16:46:28.605Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=AML+with+mutated+NPM1+carrying+a+normal+or+aberrant+karyotype+show+overlapping+biologic%2C+pathologic%2C+immunophenotypic%2C+and+prognostic+features&rft.date=2009-10-01&genre=article&issn=1528-0020&volume=114&issue=14&spage=3024&epage=3032&pages=3024-3032&jtitle=Blood&atitle=AML+with+mutated+NPM1+carrying+a+normal+or+aberrant+karyotype+show+overlapping+biologic%2C+pathologic%2C+immunophenotypic%2C+and+prognostic+features&aulast=Falini&aufirst=Brunangelo&rft_id=info%3Adoi%2F10.1182%2Fblood-2009-01-197871&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792343108945444866 |
| author | Haferlach, Claudia, Mecucci, Cristina, Schnittger, Susanne, Kohlmann, Alexander, Mancini, Marco, Cuneo, Antonio, Testoni, Nicoletta, Rege-Cambrin, Giovanna, Santucci, Antonella, Vignetti, Marco, Fazi, Paola, Martelli, Maria Paola, Haferlach, Torsten, Falini, Brunangelo |
| author_facet | Haferlach, Claudia, Mecucci, Cristina, Schnittger, Susanne, Kohlmann, Alexander, Mancini, Marco, Cuneo, Antonio, Testoni, Nicoletta, Rege-Cambrin, Giovanna, Santucci, Antonella, Vignetti, Marco, Fazi, Paola, Martelli, Maria Paola, Haferlach, Torsten, Falini, Brunangelo, Haferlach, Claudia, Mecucci, Cristina, Schnittger, Susanne, Kohlmann, Alexander, Mancini, Marco, Cuneo, Antonio, Testoni, Nicoletta, Rege-Cambrin, Giovanna, Santucci, Antonella, Vignetti, Marco, Fazi, Paola, Martelli, Maria Paola, Haferlach, Torsten, Falini, Brunangelo |
| author_sort | haferlach, claudia |
| container_issue | 14 |
| container_start_page | 3024 |
| container_title | Blood |
| container_volume | 114 |
| description | <jats:p>Acute myeloid leukemia (AML) with mutated NPM1 usually carries normal karyotype (NK), but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93 of 631 cases (14.7%), the most frequent abnormalities being +8, +4, −Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. Four of the 31 NPM1-mutated AML patients karyotyped at different time points had NK at diagnosis but AK at relapse: del(9q) (n = 2), t(2;11) (n = 1), inv(12) (n = 1). NPM1-mutated AML with NK or AK showed overlapping morphologic, immunophenotypic (CD34 negativity), and gene expression profile (down-regulation of CD34 and up-regulation of HOX genes). No difference in survival was observed among NPM1-mutated AML patients independently of whether they carried a NK or an AK, the NPM1-mutated/FLT3-ITD negative cases showing the better prognosis. Findings in our patients point to chromosomal aberrations as secondary events, reinforce the concept that NPM1 mutation is a founder genetic lesion, and indicate that NPM1-mutated AML should be clinically handled as one entity, irrespective of the karyotype.</jats:p> |
| doi_str_mv | 10.1182/blood-2009-01-197871 |
| facet_avail | Online, Free |
| finc_class_facet | Biologie, Medizin, Chemie und Pharmazie |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTE4Mi9ibG9vZC0yMDA5LTAxLTE5Nzg3MQ |
| imprint | American Society of Hematology, 2009 |
| imprint_str_mv | American Society of Hematology, 2009 |
| institution | DE-Zi4, DE-Gla1, DE-15, DE-Pl11, DE-Rs1, DE-14, DE-105, DE-Ch1, DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161 |
| issn | 0006-4971, 1528-0020 |
| issn_str_mv | 0006-4971, 1528-0020 |
| language | English |
| last_indexed | 2024-03-01T16:46:28.605Z |
| match_str | haferlach2009amlwithmutatednpm1carryinganormaloraberrantkaryotypeshowoverlappingbiologicpathologicimmunophenotypicandprognosticfeatures |
| mega_collection | American Society of Hematology (CrossRef) |
| physical | 3024-3032 |
| publishDate | 2009 |
| publishDateSort | 2009 |
| publisher | American Society of Hematology |
| record_format | ai |
| recordtype | ai |
| series | Blood |
| source_id | 49 |
| spelling | Haferlach, Claudia Mecucci, Cristina Schnittger, Susanne Kohlmann, Alexander Mancini, Marco Cuneo, Antonio Testoni, Nicoletta Rege-Cambrin, Giovanna Santucci, Antonella Vignetti, Marco Fazi, Paola Martelli, Maria Paola Haferlach, Torsten Falini, Brunangelo 0006-4971 1528-0020 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood-2009-01-197871 <jats:p>Acute myeloid leukemia (AML) with mutated NPM1 usually carries normal karyotype (NK), but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93 of 631 cases (14.7%), the most frequent abnormalities being +8, +4, −Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. Four of the 31 NPM1-mutated AML patients karyotyped at different time points had NK at diagnosis but AK at relapse: del(9q) (n = 2), t(2;11) (n = 1), inv(12) (n = 1). NPM1-mutated AML with NK or AK showed overlapping morphologic, immunophenotypic (CD34 negativity), and gene expression profile (down-regulation of CD34 and up-regulation of HOX genes). No difference in survival was observed among NPM1-mutated AML patients independently of whether they carried a NK or an AK, the NPM1-mutated/FLT3-ITD negative cases showing the better prognosis. Findings in our patients point to chromosomal aberrations as secondary events, reinforce the concept that NPM1 mutation is a founder genetic lesion, and indicate that NPM1-mutated AML should be clinically handled as one entity, irrespective of the karyotype.</jats:p> AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features Blood |
| spellingShingle | Haferlach, Claudia, Mecucci, Cristina, Schnittger, Susanne, Kohlmann, Alexander, Mancini, Marco, Cuneo, Antonio, Testoni, Nicoletta, Rege-Cambrin, Giovanna, Santucci, Antonella, Vignetti, Marco, Fazi, Paola, Martelli, Maria Paola, Haferlach, Torsten, Falini, Brunangelo, Blood, AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features, Cell Biology, Hematology, Immunology, Biochemistry |
| title | AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_full | AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_fullStr | AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_full_unstemmed | AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_short | AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_sort | aml with mutated npm1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| title_unstemmed | AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features |
| topic | Cell Biology, Hematology, Immunology, Biochemistry |
| url | http://dx.doi.org/10.1182/blood-2009-01-197871 |