TY - JOUR
T1 - Chronic myelomonocytic leukemia with nucleophosmin (NPM1) mutation
AU - Peng, Jie
AU - Zuo, Zhuang
AU - Fu, Bin
AU - Oki, Yasuhiro
AU - Tang, Guilin
AU - Goswami, Maitrayee
AU - Priyanka, Priyanka
AU - Muzzafar, Tariq
AU - Medeiros, L Jeffrey
AU - Luthra, Rajyalakshmi
AU - Wang, Sa
N1 - Publisher Copyright:
© 2016 John Wiley & Sons A/S.
PY - 2016/1/1
Y1 - 2016/1/1
N2 - Nucleophosmin (NPM1) mutations in chronic myelomonocytic leukemia (CMML) are extremely uncommon, and the clinicopathologic features of these neoplasms are poorly characterized. Over a 10-yr interval, NPM1 mutation analysis was performed in 152 CMML at our institution. NPM1 mutations were identified in 8 (5.3%) patients, five men and three women, with a median age of 72yr (range, 27-87). In all patients, the bone marrow was hypercellular with multilineage dysplasia, monocytosis, and retained maturation supporting a diagnosis of CMML. NPM1 mutation allele burden was <5% in two patients and >10% in six patients. Four (50%) patients, all with >10% NPM1, progressed AML with a median interval of 11months (range, 1-21). Compared with 144 CMML without NPM1 mutations, CMML patients with NPM1 mutation presented with more severe anemia (P=0.053), higher BM monocyte percentage (P=0.033), and an increased tendency for AML progression (P=0.088) and an inferior overall survival (P=0.076). Mutations involving NRAS/KRAS (2/7), TET2(2/5), ASXL1(1/5,) and FLT3(0/8) were not significantly different between these two groups. In summary, CMML with NPM1 mutation shows histopathological features of CMML, but patients appear to have a high probability for AML progression and may require aggressive clinical intervention, especially in patients with a high mutation burden.
AB - Nucleophosmin (NPM1) mutations in chronic myelomonocytic leukemia (CMML) are extremely uncommon, and the clinicopathologic features of these neoplasms are poorly characterized. Over a 10-yr interval, NPM1 mutation analysis was performed in 152 CMML at our institution. NPM1 mutations were identified in 8 (5.3%) patients, five men and three women, with a median age of 72yr (range, 27-87). In all patients, the bone marrow was hypercellular with multilineage dysplasia, monocytosis, and retained maturation supporting a diagnosis of CMML. NPM1 mutation allele burden was <5% in two patients and >10% in six patients. Four (50%) patients, all with >10% NPM1, progressed AML with a median interval of 11months (range, 1-21). Compared with 144 CMML without NPM1 mutations, CMML patients with NPM1 mutation presented with more severe anemia (P=0.053), higher BM monocyte percentage (P=0.033), and an increased tendency for AML progression (P=0.088) and an inferior overall survival (P=0.076). Mutations involving NRAS/KRAS (2/7), TET2(2/5), ASXL1(1/5,) and FLT3(0/8) were not significantly different between these two groups. In summary, CMML with NPM1 mutation shows histopathological features of CMML, but patients appear to have a high probability for AML progression and may require aggressive clinical intervention, especially in patients with a high mutation burden.
KW - Acute myeloid leukemia
KW - Chronic myelomonocytic leukemia
KW - Karyotype
KW - Mutation
KW - Nucleophosmin 1
UR - http://www.scopus.com/inward/record.url?scp=84955194034&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84955194034&partnerID=8YFLogxK
U2 - 10.1111/ejh.12549
DO - 10.1111/ejh.12549
M3 - Article
C2 - 25809997
AN - SCOPUS:84955194034
SN - 0902-4441
VL - 96
SP - 65
EP - 71
JO - European Journal of Haematology
JF - European Journal of Haematology
IS - 1
ER -