The Value of FLT3, NPM1 and DNMT3A Gene Mutation Analysis in Acute Myeloid Leukemia Diagnosis

Bănescu, Claudia; Skrypnyk, Cristina

doi:10.2478/rrlm-2019-0024

Cited by 6 publications

(9 citation statements)

References 23 publications

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“…Clinical characteristics such as treatment (low dose treatment), patients' outcome, high LDH level, high PLT count, high WBC count, high cytogenetic and ELN risk, high age (>60 years) at diagnosis, and FLT3 ITD mutation were associated with lower OS (p < 0.01), as expected. Part of the mentioned OS associations have been previously reported in the literature [2,41,52,53] and our group also reported part of these clinical associations on smaller cohorts of AML patients [31,32,53].…”

Section: Discussionsupporting

confidence: 79%

Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Tripon

Iancu

Crauciuc

et al. 2020

JCM

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This study aimed to explore the associations between the TP53 rs1042522 (TP53 Arg72Pro), MDM2 rs2279744 (MDM2 309T>G), rs3730485 (MDM2 del1518), MDM4 rs4245739 (MDM4 34091 C>A) variants and odds of developing acute myeloid leukemia (AML) in a cohort of 809 adult subjects, consisting of 406 healthy controls and 403 AML patients. Model-based multifactor dimensionality reduction (MB-MDR) framework was used to identify the interactions of the mentioned variants and their association with AML risk. Associations of the mentioned variants with clinical features of AML, somatic mutations, and response to treatment were also evaluated. Significant associations between TP53 rs1042522 and MDM4 rs4245739 variants and AML susceptibility were noticed. MB-MDR and logistic regression analysis revealed an interaction between MDM2 rs2279744 and TP53 rs1042522, between MDM4 rs4245739 and MDM2 rs3730485, as well as significant associations with AML susceptibility. Several associations between the mentioned variants and clinical features of AML and somatic mutations were also noticed. Individually, the variant genotypes of TP53 rs1042522 and MDM4 rs4245739 were associated with AML susceptibility, but their interaction with MDM2 rs2279744 and rs3730485 modulated the risk for AML. The variant genotypes of TP53 rs1042522 were associated with adverse molecular and cytogenetic risk and also with NPM1 mutations.

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Section: Discussionsupporting

confidence: 79%

Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Tripon

Iancu

Crauciuc

et al. 2020

JCM

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“…Similarly, it was reported that the presence of concomitant FLT3 ITD and DNMT3A R882 mutations in patients with AML is an unfavorable prognostic factor. [28][29][30] In this study, we identified a significant association of CNAs with the FLT3 D835 mutation, but not with age, WBC and platelet counts, LDH and hemoglobin levels, blast percentage, or the ECOG performance status.…”

Section: Article Informationmentioning

confidence: 53%

Presence of copy number aberration and clinical prognostic factors in patients with acute myeloid leukemia: an analysis of effect modification

Bănescu¹,

Tripon²,

Crauciuc³

et al. 2019

Polish Archives of Internal Medicine

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and low survival rates. 1,2 Chromosomal abnormalities and gene mutations are important prognostic factors in AML, but also in other types of leukemia, such as chronic lymphocytic leukemia (CLL). 3,4 INTRODUCTION Acute myeloid leukemia (AML), the most common acute leukemia in adults, is a heterogeneous, complex, and dynamic disease, characterized by multiple somatically acquired genetic events, progression over time,

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“…BRCA testing is essential for saving lives, for longer and higher quality of life in breast and ovarian cancer patients. Obviously, extending the molecular testing would benefit the whole population and the health system as well (39)(40)(41).…”

Section: Discussionmentioning

confidence: 99%

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Negura

Braescu

Morariu

et al. 2020

Revista Romana De Medicina De Laborator

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Hereditary predisposition to breast and ovarian cancer (HBOC) is diagnosed by molecular analysis of deleterious mutations in BRCA genes, allowing oncogenetic follow-up of patients and of their families. BRCA testing addresses only to HBOC families, using restrictive inclusion criteria based on familial history of cancer and age at diagnosis. Sporadic ovarian cancer has high incidence and mortality in Romania, with low median age of diagnosis and possibly a higher magnitude of hereditary contribution comparing to othe populations. However, sporadic ovarian cancers do not qualify for BRCA testing according to inclusion criteria, and a complete BRCA screening of all cancers is neither feasible nor recommended. Despite the large diversity of BRCA mutations worldwide, some recurrent mutations have higher frequencies in diverse populations. Precisely screening for recurrent mutations in a target population allows to rapidly identifying mutation carriers without sequencing the entire BRCA genes. In Romanian population and neighboring countries, several recurrent mutations have already been described. In a consecutive series of 50 sporadic ovarian cancer patients, not qualifying for BRCA complete testing, we screened for 9 most common BRCA mutations, by multiplex-PCR, RFLP and targeted Sanger sequencing. Our results revealed 6 different BRCA mutations in 8 unrelated patients, with a frequency of 16%, much higher than expected. We further recommend screening for the identified mutations in larger series of cancer patients. The results are highly beneficial to cancer patients, healthy relatives, and overall, considering prevention in cancer a priority, to public health system and future of oncogenetics in Romania

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The Value of FLT3, NPM1 and DNMT3A Gene Mutation Analysis in Acute Myeloid Leukemia Diagnosis

Cited by 6 publications

References 23 publications

Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Presence of copy number aberration and clinical prognostic factors in patients with acute myeloid leukemia: an analysis of effect modification

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

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