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KMID : 1100720130330030159
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Annals of Laboratory Medicine
2013 Volume.33 No. 3 p.159 ~ p.166
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N-ras Mutation Detection by Pyrosequencing in Adult Patients with Acute Myeloid Leukemia at a Single Institution
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Jeong Ji-Hun
Park Soon-Ho
Park Mi-Jung
Kim Moon-Jin
Kim Kyung-Hee
Park Pil-Whan
Seo Yiel-Hea
Ahn Jeong-Yeal
Lee Jae-Hoon
Park Jinny
Hong Jun-Shik
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Abstract
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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.
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KEYWORD
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N-ras, AML, Pyrosequencing, Bone marrow
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