Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Nov;38(6):495-502.
doi: 10.3343/alm.2018.38.6.495.

Poor Prognostic Implication of ASXL1 Mutations in Korean Patients With Chronic Myelomonocytic Leukemia

Hyun Young Kim  1   2 , Ki O Lee  3 , Silvia Park  4 , Jun Ho Jang  4 , Chul Won Jung  4 , Sun Hee Kim  1 , Hee Jin Kim  5
Affiliations

Poor Prognostic Implication of ASXL1 Mutations in Korean Patients With Chronic Myelomonocytic Leukemia

Hyun Young Kim et al. Ann Lab Med. 2018 Nov.

Abstract

Background: Molecular genetic abnormalities are observed in over 90% of chronic myelomonocytic leukemia (CMML) cases. Recently, several studies have demonstrated the negative prognostic impact of ASXL1 mutations in CMML patients. We evaluated the prognostic impact of ASXL1 mutations and compared five CMML prognostic models in Korean patients with CMML.

Methods: We analyzed data from 36 of 57 patients diagnosed as having CMML from January 2000 to March 2016. ASXL1 mutation analysis was performed by direct sequencing, and the clinical and laboratory features of patients were compared according to ASXL1 mutation status.

Results: ASXL1 mutations were detected in 18 patients (50%). There were no significant differences between the clinical and laboratory characteristics of ASXL1-mutated (ASXL1⁺) CMML and ASXL1-nonmutated (ASXL1⁻) CMML patients (all P>0.05). During the median follow-up of 14 months (range, 0-111 months), the overall survival (OS) of ASXL1⁺ CMML patients was significantly inferior to that of ASXL1⁻ CMML patients with a median survival of 11 months and 19 months, respectively (log-rank P=0.049). An evaluation of OS according to the prognostic models demonstrated inferior survival in patients with a higher risk category according to the Mayo molecular model (log-rank P=0.001); the other scoring systems did not demonstrate a significant association with survival.

Conclusions: We demonstrated that ASXL1 mutations, occurring in half of the Korean CMML patients examined, were associated with inferior survival. ASXL1 mutation status needs to be determined for risk stratification in CMML.

Keywords: ASXL1; Chronic myelomonocytic leukemia; Korea; Mayo molecular model; Prognostic models; Risk stratification.

PubMed Disclaimer

Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1
Fig. 1. Kaplan-Meier plots of the (A) overall survival and (B) leukemic transformation-free survival in patients with chronic myelomonocytic leukemia according to ASXL1 mutation status.
Fig. 2
Fig. 2. Kaplan-Meier plots of the overall survival in patients with chronic myelomonocytic leukemia according to the (A) Spanish cytogenetic risk stratification, (B) MDAPS, (C) GFM model, (D) Mayo model, and (E) Mayo molecular model.
Abbreviations: MDAPS, MD Anderson prognostic scoring system; GFM, Groupe Français des Myélodysplasies.
See this image and copyright information in PMC

References

    1. Patnaik MM, Tefferi A. Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management. Am J Hematol. 2016;91:631–642. - PubMed
    1. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–2405. - PubMed
    1. Such E, Cervera J, Costa D, Solé F, Vallespi T, Luño E, et al. Cytogenetic risk stratification in chronic myelomonocytic leukemia. Haematologica. 2011;96:375–383. - PMC - PubMed
    1. Wassie EA, Itzykson R, Lasho TL, Kosmider O, Finke CM, Hanson CA, et al. Molecular and prognostic correlates of cytogenetic abnormalities in chronic myelomonocytic leukemia: a Mayo Clinic-French Consortium Study. Am J Hematol. 2014;89:1111–1115. - PubMed
    1. Patnaik MM, Tefferi A. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393. - PMC - PubMed

MeSH terms

LinkOut - more resources