Paulus Notopuro, Harianto Notopuro, Imam Budiwijono, Purwanto Adipireno,
Volume 9, Issue 2 ( June 2017 2017)
Abstract
Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients with AML with and without NPM1 mutation.
Methods: In this study, 25 de novo patients with AML were investigated for NPM1 exon 12 gene mutation using ASO-RT-PCR. Initial leukocyte counts, bone marrow blast cell counts and expression of CD34 on blasts were examined in all patients.
Results: 13 of 25 de novo patients with AML (52%) had NPM1 gene mutation. Initial leukocyte counts in AML patients with NPM1 gene mutation was not significantly higher than patients without this mutation (23.400 /µL versus 16.000 /µL, P=0.53). Blast cell counts were not significantly higher in AML patients with NPM1 gene mutation than patients without mutation. (41% versus 19%, P=0,18). Expression of CD34 was not significantly different between AML patients with and without NPM1 gene mutation (P=0.48).
Conclusion: There were no difference in initial leukocyte count, blast cell count and CD34 expression among patients with AML with and without NPM1 exon 12 type A gene mutation.
Paulus Budiono Notopuro, Nugraha Jusak, Notopuro Harianto,
Volume 12, Issue 2 ( June 2020 2020)
Abstract
Background: FLT3 gene mutation contributes worse prognosis in patients with acute myeloid leukemia (AML). Almost 67% of patients with AML with FLT3 gene mutation cannot reach complete remission after induction therapy, and they are also at high risk of relapse. We aimed to investigate the FLT3-ITD, -TKD (D835) gene mutation prevalence in patients with AML at Surabaya and their association with leukocyte and bone marrow blast cell count.
Methods: 20 de novo patients with AML were recruited during February–July 2018. They were investigated through routine AML check-up and detection for FLT3-ITD, -TKD (D835) gene mutation.
Results: Four patients with de novo AML (20%) had FLT3-ITD gene mutation, and one patient had FLT3-TKD (D835) gene mutation. Median leukocyte count in patients with AML with FLT3-ITD mutation was higher than wild type patients ( 146.3×103/ µL vs 16.4 x 103 / µL, P=0,002). The mean bone marrow blast cell count was higher in patients with AML with FLT3-ITD mutation than wild type patients ( 86.5% vs 57.9%, P=0,047). The difference in leukocyte and bone marrow blast cell count in patients with FLT3-TKD (D835) mutation could not be analyzed since there was only one patient with this mutation.
Conclusion: The prevalence of FLT3-ITD gene mutation in patients in AML in Surabaya was 20% and FLT3-TKD (D835) was 5%. Patients with FLT3-ITD gene mutation was associated with leukocyte and bone marrow blast cell count.
