Screening for myeloid mutations in patients with myelodysplastic syndromes and AML with myelodysplasia-related changes

Bezerra, Matheus Filgueira; Larrazábal, Bruna Rios de; Lima, Aleide S.; Mello, Mariana G. de; Pimentel, Raphael Ferreira; Weinhäuser, Isabel; Costa, Fernando Ferreira; Fertrin, Kleber Yotsumoto; Araújo, Aderson S; Machado, Cíntia; Lucena-Araújo, Antonio R.

doi:10.1016/j.htct.2020.10.967

Cited by 1 publication

(3 citation statements)

References 18 publications

(26 reference statements)

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“…The incidence of FLT3-ITD mutation in AML may be lower in Eastern Asians when compared to Caucasians, however, there is no data to suggest that this may impact the FLT3 mutation frequency in Turkey [16]. An important aspect of our study is that, unlike many other studies focusing on the ITD mutation, it also investigated TKD mutations in MDS [7,8,10]…”

Section: Discussionmentioning

confidence: 96%

“…Twelve patients (4.3%) had FLT3 mutations (including ITD and TKD) among 1232 MDS patients who were diagnosed between 1997-2010 in the largest trial performed by the MD Although there is debate about the impact of FLT3 mutation on OS, all the trials provide evidence that FLT3-ITD mutations can have a significant role in MDS-AML transformation [3][4][5][6][7][8][9][10]. A summary of FLT3 ITD/TKD positive frequencies in patients in these trials is shown in Table -2.…”

Section: Discussionmentioning

confidence: 99%

“…FLT-3 mutations are also observed in MDS patients. Currently, there is a heterogeneity of data on the frequency of FLT-3 mutation in MDS and it varies between 0% and 7% [3][4][5][6][7][8][9][10]. Therefore, in this study, we aimed to quantify FLT-3 mutation frequency in MDS and to determine its relationship with prognostic scoring systems.…”

Section: Introductionmentioning

confidence: 99%

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Investigation of FMS-Like Tyrosine Kinase 3 Mutation Frequency in Myelodysplastic Syndrome

Akın

Turgutkaya

Yavaşoğlu

et al. 2021

IBRR

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Introduction: FMS-Like Tyrosine Kinase Class 3 (FLT3) mutations harbor poor prognosis, high relapse, and decreased overall survival in acute myeloblastic leukemia (AML). This mutation is also known to be demonstrated in myelodysplastic syndrome (MDS), chronic myelomonocytic leukemia and acute lymphoblastic leukemia. This study included 94 MDS-diagnosed patients and we tried to investigate FLT3 mutation frequency (as tyrosine kinase domain-TKD and internal tandem duplication-ITD). Materials and Methods: Polymerase chain reaction (PCR), restriction fragment length polymorphism, and agarose-gel electrophoresis methods were used to analyze the mutation. The blood samples were collected in K3-EDTA tubes, and total DNA was isolated using genomic DNA isolation kits (GeneMark, Cat No: DP023P). For the detection of FLT3-ITD mutation, PCR was performed to amplify a 330- base pair fragment of exons 11 and 12 of FLT3 using FAM (Carboxyfluorescein)-labeled ITD-11F and HEX (Hexachloro-Fluorescein )-labeled ITD-12R primers in a thermal cycler (Eppendorf). Similarly, to detect D835 mutation, a 115- bp region of exon 17 of the FLT3 gene region was amplified using primers. Results: One patient was found FLT3-ITD positive (1.1%). The patient was 64-year-old and diagnosed with MDS-excess blast type 2 according to the World Health Organisation 2016 myeloid neoplasm classification. He transformed to AML within 19 months and subsequently died after 1 month. No patient with tyrosine kinase domain mutation was detected. Conclusion: FLT3 mutation is considered a significant parameter to define prognosis in AML. The routine workup of FLT3 screening and the potential of targeting FLT3 inhibition for high-risk MDS may be taken into consideration in the future.

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