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@article{2381697, author = {Angenendt, Linus and Roellig, Christoph and Montesinos, Pau and Ravandi, Farhad and Juliusson, Gunnar and Recher, Christian and Itzykson, Raphael and Ráčil, Zdeněk and Wei, Andrew H and Schliemann, Christoph}, article_location = {Washington DC, USA}, article_number = {4}, doi = {http://dx.doi.org/10.1182/blood.2022018582}, keywords = {NPM1-mutated AML}, language = {eng}, issn = {0006-4971}, journal = {Blood}, title = {Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification}, url = {https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in}, volume = {141}, year = {2023} }
TY - JOUR ID - 2381697 AU - Angenendt, Linus - Roellig, Christoph - Montesinos, Pau - Ravandi, Farhad - Juliusson, Gunnar - Recher, Christian - Itzykson, Raphael - Ráčil, Zdeněk - Wei, Andrew H - Schliemann, Christoph PY - 2023 TI - Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification JF - Blood VL - 141 IS - 4 SP - 433-435 EP - 433-435 PB - American Society of Hematology SN - 00064971 KW - NPM1-mutated AML UR - https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in N2 - Mutations in the nucleophosmin 1 (NPM1) gene are among the most frequent genetic alterations in patients with acute myeloid leukemia (AML) and have been associated with a favorable prognosis.1,2 In 2019, in a large international collaborative study, we have reported that cytogenetic abnormalities are important determinants of outcome in NPM1-mutated (NPM1mut) AML.3 We showed that intensively treated patients with NPM1mut AML and coexisting adverse-risk cytogenetics shared the same unfavorable prognosis as their NPM1 wild-type (NPM1WT) counterparts. This was a new finding, because the European LeukemiaNet (ELN) 2017 classification considered the NPM1mut status (in the absence of an FLT3-ITD mutation with a high allelic ratio) favorable regardless of accompanying chromosomal abnormalities, in full analogy to core-binding factor AML.4 As a consequence, in the recently published ELN 2022 genetic risk classification of AML, the presence of adverse-risk cytogenetics now defines adverse-risk in NPM1mut AML.5 Other key changes made to the previous ELN classification included the addition of further disease-defining recurrent cytogenetic abnormalities to the adverse-risk group [ie, t(3q26.2;v) and t(8;16)(p11;p13)]. In turn, hyperdiploid karyotypes with multiple (≥3) trisomies or polysomies in the absence of structural abnormalities are no longer considered as complex karyotypes.5,6 Even though the combination of an NPM1 mutation with adverse chromosomal aberrations is a rare event (∼3%), the impact of cytogenetics in NPM1mut AML has important implications for postremission treatment decisions. ER -
ANGENENDT, Linus, Christoph ROELLIG, Pau MONTESINOS, Farhad RAVANDI, Gunnar JULIUSSON, Christian RECHER, Raphael ITZYKSON, Zdeněk RÁČIL, Andrew H WEI a Christoph SCHLIEMANN. Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification. \textit{Blood}. Washington DC, USA: American Society of Hematology, 2023, roč.~141, č.~4, s.~433-435. ISSN~0006-4971. Dostupné z: https://dx.doi.org/10.1182/blood.2022018582.
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