N-ras Mutation Detection by Pyrosequencing in Adult Patients with Acute Myeloid Leukemia at a Single Institution.
10.3343/alm.2013.33.3.159
- Author:
Ji Hun JEONG
1
;
Soon Ho PARK
;
Mi Jung PARK
;
Moon Jin KIM
;
Kyung Hee KIM
;
Pil Whan PARK
;
Yiel Hea SEO
;
Jae Hoon LEE
;
Jinny PARK
;
Junshik HONG
;
Jeong Yeal AHN
Author Information
1. Department of Laboratory Medicine, Gachon University Gil Medical Center, Incheon, Korea. jyahn@gilhospital.com
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
N-ras;
AML;
Pyrosequencing;
Bone marrow
- MeSH:
Adult;
Aged;
Aged, 80 and over;
Antineoplastic Agents/therapeutic use;
Bone Marrow/metabolism;
Codon;
Cytogenetic Analysis;
Female;
Hemoglobins/metabolism;
Humans;
Incidence;
Leukemia, Myeloid, Acute/drug therapy/epidemiology/*genetics;
Male;
Middle Aged;
Mutation;
Sequence Analysis, DNA;
fms-Like Tyrosine Kinase 3/genetics;
ras Proteins/*genetics
- From:Annals of Laboratory Medicine
2013;33(3):159-166
- CountryRepublic of Korea
- Language:English
-
Abstract:
BACKGROUND: N-ras mutations are one of the most commonly detected abnormalities of myeloid origin. N-ras mutations result in a constitutively active N-ras protein that induces uncontrolled cell proliferation and inhibits apoptosis. We analyzed N-ras mutations in adult patients with AML at a particular institution and compared pyrosequencing analysis with a direct sequencing method for the detection of N-ras mutations. METHODS: We analyzed 90 bone marrow samples from 83 AML patients. We detected N-ras mutations in codons 12, 13, and 61 using the pyrosequencing method and subsequently confirmed all data by direct sequencing. Using these methods, we screened the N-ras mutation quantitatively and determined the incidence and characteristic of N-ras mutation. RESULTS: The incidence of N-ras mutation was 7.2% in adult AML patients. The patients with N-ras mutations showed significant higher hemoglobin levels (P=0.022) and an increased incidence of FLT3 mutations (P=0.003). We observed 3 cases with N-ras mutations in codon 12 (3.6%), 2 cases in codon 13 (2.4%), and 1 case in codon 61 (1.2%). All the mutations disappeared during chemotherapy. CONCLUSIONS: There is a low incidence (7.2%) of N-ras mutations in AML patients compared with other populations. Similar data is obtained by both pyrosequencing and direct sequencing. This study showed the correlation between the N-ras mutation and the therapeutic response. However, pyrosequencing provides quantitative data and is useful for monitoring therapeutic responses.
