Chronic myelomonocytic leukemia with nucleophosmin (NPM1) mutation
Jie Peng
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Department of Hematology, Central South University Xiangya Hospital, Changsha, China
Search for more papers by this authorZhuang Zuo
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorBin Fu
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Department of Hematology, Central South University Xiangya Hospital, Changsha, China
Search for more papers by this authorYasuhiro Oki
Department of Lymphoma/Myeloma, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorGuilin Tang
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorMaitrayee Goswami
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorPriyanka Priyanka
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorTariq Muzzafar
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorL. Jeffrey Medeiros
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorRajyalakshmi Luthra
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorCorresponding Author
Sa A. Wang
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Correspondence Sa A. Wang, MD, The University of Texas MD Anderson Cancer Center, Unit 72, 1515 Holcombe Blvd, Houston, TX 77030, USA. Tel.: +1 713 792 2603; Fax: +1 713 563 3166; e-mail: [email protected]Search for more papers by this authorJie Peng
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Department of Hematology, Central South University Xiangya Hospital, Changsha, China
Search for more papers by this authorZhuang Zuo
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorBin Fu
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Department of Hematology, Central South University Xiangya Hospital, Changsha, China
Search for more papers by this authorYasuhiro Oki
Department of Lymphoma/Myeloma, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorGuilin Tang
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorMaitrayee Goswami
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorPriyanka Priyanka
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorTariq Muzzafar
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorL. Jeffrey Medeiros
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorRajyalakshmi Luthra
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Search for more papers by this authorCorresponding Author
Sa A. Wang
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Correspondence Sa A. Wang, MD, The University of Texas MD Anderson Cancer Center, Unit 72, 1515 Holcombe Blvd, Houston, TX 77030, USA. Tel.: +1 713 792 2603; Fax: +1 713 563 3166; e-mail: [email protected]Search for more papers by this authorAbstract
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 72 yr (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 11 months (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.
Supporting Information
| Filename | Description |
|---|---|
| ejh12549-sup-0001-Tables1.docxWord document, 16.2 KB | Table S1. Mutations of NPM1 and other genes according to the nomenclature recommendations of the Human Genome Variation Society (HGVS) in the 8 patients with chronic myelomonocytic leukemia and NPM1 mutation. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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