FENG-MING TIENHSIN-AN HOUCHENG-HONG TSAIJIH-LUH TANGChen, Chien-YuanChien-YuanChenKuo, Yuan-YehYuan-YehKuoLi, Chi-ChengChi-ChengLiLin, Chien-TingChien-TingLinMING YAOSHANG-YI HUANGBOR-SHENG KOSZU-CHUN HSUSHANG-JU WUWOEI TSAYTseng, Mei-HsuanMei-HsuanTsengLiu, Ming-ChihMing-ChihLiuLiu, Chia-WenChia-WenLiuLIANG-IN LINWEN-CHIEN CHOUHWEI-FANG TIEN2022-09-132022-09-132018-070902-4441https://www.scopus.com/inward/record.uri?eid=2-s2.0-85047470691&doi=10.1111%2fejh.13073&partnerID=40&md5=edbfa2667791fc8b569b73e9dff36bd9https://scholars.lib.ntu.edu.tw/handle/123456789/619699Objectives: Acute myeloid leukemia (AML) with hyperleukocytosis (HL) is intuitively thought as a unique group with dismal prognosis. However, comprehensive studies regarding the genetic landscape and clinical outcome in this group of patients are limited. Methods: A total of 693 newly diagnosed de novo non-M3 AML patients were consecutively enrolled. We compared relevant mutations in 20 genes between AML patients with or without HL and exposed their prognostic implications. Results: Hyperleukocytosis, defined as initial white blood cell counts above 50 000/μL, occurred in 28.9% of AML patients. HL patients had higher incidences of FLT3-ITD, NPM1, DNMT3A, CEBPA, and TET2 mutations. Multivariate analysis demonstrated that HL was an independent poor prognostic factor for overall survival and disease-free survival in total patients, those with intermediate-risk cytogenetics and normal karyotype irrespective of genetic alterations. Intriguingly, HL predicted poor survival in CEBPA double mutated, NPM1 + /FLT3-ITD- and NPM1-/FLT3-ITD- patients. Further, HL patients who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) in first complete remission (CR) had a significantly longer overall survival and disease-free survival than those without allo-HSCT. Conclusions: Hyperleukocytosis is an independent poor prognostic factor irrespective of cytogenetics and mutation status. Allo-HSCT in first CR seems to ameliorate the poor prognostic impact of HL. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltdenacute myeloid leukemia; genetic alterations; hyperleukocytosis; prognosis; transplantationHyperleukocytosis is associated with distinct genetic alterations and is an independent poor-risk factor in de novo acute myeloid leukemia patientsjournal article10.1111/ejh.13073296247462-s2.0-85047470691