Do we really need genetic tests in current clinical practice?

Bănescu, Claudia

doi:10.2478/rrlm-2019-0010

Cited by 8 publications

(8 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Moreover, we consider LD-RT-PCR analysis as a rapid and low-cost technique that may be performed for the first investigation of leukemia patients. Our AML patient did not present CNAs, but as previously reported, we agree that MLPA represents a useful analysis for the detection of CNAs with clinical significance (8)(9)(10)(19)(20).…”

Section: Case Reportsupporting

confidence: 91%

“…Fragment analysis and GeneMapper software (ThermoFisher Scientific, USA) were used in order to calculate the Variant-Allele Frequency/Allele Ratio for FLT3 ITD and NPM1 mutations. MLPA analysis was used in order to detect CNAs and aneuploidy identification as previously published (8,9) being well known that MLPA represents a useful analysis for AML patients (8,10). For aneuploidy detection, in addition to the probemix (SALSA P-036 Subtelomere mix 1) used in a published protocol (8), we also used SALSA MLPA P070 Subtelomeres Mix 2B, P181 Centromere mix 1 and P182 Centromere mix 2 (MRC Holland, Amsterdam).…”

Section: Case Reportmentioning

confidence: 99%

See 1 more Smart Citation

A rare case of acute myeloid leukemia with ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) fusion gene in an elderly patient

Macarie

Tripon

Dorcioman

et al. 2020

Revista Romana De Medicina De Laborator

View full text Add to dashboard Cite

Introduction. We report one elderly patient diagnosed with a rare subtype of acute myeloid leukemia (AML) and also with a very rare fusion gene involving ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) genes.Material and methods. Clinical examination and routine analysis were performed including peripheral blood smear, immunophenotyping of the peripheral blood by flow cytometry and several molecular analyses.Results. Peripheral blood smear showed 80% blasts with round and some with convoluted nuclei, with basophilic cytoplasm, identified as monoblast and the majority of cells as promonocytes. Peripheral blood immunophenotyping was consistent with monocytic differentiation. Molecular analysis was negative for FLT3 ITD, FLT3 D835, NPM1, and DNMT3A R882 mutations. Multiplex ligation-dependent probe amplification revealed no copy number aberration. Ligation-dependent reverse transcription polymerase chain reaction (LD-RT-PCR) analysis identified the presence of one gene fusion between ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) genes. The patient had no significant comorbidities, the renal function was normal and Eastern Cooperative Oncology Group performance status was 2 at diagnosis and 1 after treatment. She was treated with decitabine. She became transfusion independent and a reduction of the number of blasts was obtained.Conclusions. The outcome of our AML patient was favorable but other patients with fusion genes involving ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) should be reported, contributing to a better characterization of the disease, to monitor the minimal residual disease and in the end to more targeted treatment options. LD-RT-PCR represent a valuable multiplex technique for fusion gene analysis.

show abstract

Section: Case Reportsupporting

confidence: 91%

Section: Case Reportmentioning

confidence: 99%

A rare case of acute myeloid leukemia with ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) fusion gene in an elderly patient

Macarie

Tripon

Dorcioman

et al. 2020

Revista Romana De Medicina De Laborator

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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

show abstract

“…Recurrent structural and numerical chromosomal aberration and molecular markers, such as Fms like tyrosine kinase 3 (FLT3), Nucleophosmin 1 (NPM1), and DNA methyltransferase 3 alpha (DNMT3A) mutations, were proved to have an impact on AML treatment response and prognosis [6][7][8][9][10][11]. High lactate dehydrogenase (LDH) value or hyperleukocytosis has been reported to be independent of poor prognostic factors in AML [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Modelling the Effects of MCM7 Variants, Somatic Mutations, and Clinical Features on Acute Myeloid Leukemia Susceptibility and Prognosis

Tripon

Iancu

Crauciuc

et al. 2020

JCM

Self Cite

View full text Add to dashboard Cite

The main objective of the study was to evaluate the associations between MCM7 rs2070215, rs1527423, and rs1534309 single nucleotide polymorphisms (SNPs) and acute myeloid leukemia (AML) risk and prognosis. The secondary objectives were to assess if any relationships existed between the mentioned SNPs and FLT3, DNMT3A, NPM1 mutations with clinical outcomes and overall survival (OS) in AML patients. We investigated 281 AML cases and 405 healthy subjects. The results showed a significant association between a variant allele of rs2070215 (p = 0.007), CAT haplotype (p = 0.012), and AML susceptibility. No significant association was found between MCM7 variant genotypes and overall survival of AML patients (p > 0.05), while several associations between somatic mutations, clinical and biological features, and poor OS were noticed. Lactate dehydrogenase (LDH) level ≥ 600 IU/L had a significant effect on the hazard of death (p = 0.004, HR = 1.49, 95% CI: 1.13–1.95). Our study showed that the variant allele of rs2070215, in the allelic model, and CAT haplotype were associated with AML susceptibility. The investigated FLT3, DNMT3A, and NPM1 mutations were associated with the clinical and biological features and poor OS. LDH level ≥ 600 IU/L was associated with an increased hazard of death and this association remained significant when quantifying for effect modification by FLT3 mutation status.

show abstract

Do we really need genetic tests in current clinical practice?

Cited by 8 publications

References 18 publications

A rare case of acute myeloid leukemia with ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) fusion gene in an elderly patient

A rare case of acute myeloid leukemia with ARHGEF12 (LARG, 11q23.3) and MAPRE1 (EB1, 20q11.21) fusion gene in an elderly patient

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

Modelling the Effects of MCM7 Variants, Somatic Mutations, and Clinical Features on Acute Myeloid Leukemia Susceptibility and Prognosis

Contact Info

Product

Resources

About