Publications by authors named "Nibourel O"
Article Synopsis
- Myelodysplastic syndromes (MDS) require a specialized treatment approach, and the new Molecular International Prognostic Scoring System (IPSS-M) aims to enhance predictions for patient outcomes compared to the older IPSS-R model.
- A study of 2,876 patients revealed that IPSS-M significantly improved survival predictions and shifted risk classifications in nearly half of the patients, even those without detectable gene mutations.
- The findings suggest IPSS-M could better identify patients suitable for hematopoietic stem cell transplantation, although its effectiveness in certain treatment responses remains limited; further research on other influencing factors is necessary.
Article Synopsis
- FLT3-ITDs are important markers for assessing risk in acute myeloid leukemia (AML), and a new algorithm called FiLT3r has been developed to efficiently identify and quantify these markers using high-throughput sequencing (HTS) data without the need for alignment.
- FiLT3r focuses on specific k-mers from FLT3 exons 14 and 15, and tests showed it outperformed existing software and the gold standard method in accuracy, achieving no false positives or negatives in a study involving 185 AML patients.
- The algorithm is resource-efficient, and its results were confirmed using public RNA-Seq data; FiLT3r is available for free
Subsequent blast (BP) or accelerated phase (AP) is a severe complication of Philadelphia-negative myeloproliferative neoplasms (MPNs). The prognosis is generally dismal, but hypomethylating agents (HMAs) may induce a long-lasting response in a minority of patients. Here, we report a cohort of six patients with BP/AP-MPN who experienced MPN relapse after a leukemia response was obtained with azacytidine.
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- Standardized monitoring of BCR::ABL1 mRNA levels is crucial for managing chronic myeloid leukemia (CML) patients, as established by the European Treatment and Outcome Study for CML (EUTOS) from 2016 to 2021.
- The study tested secondary, lyophilized BCR::ABL1 reference panels to help local laboratories validate their tests and convert results to the International Scale, leading to significant improvements in the validation of conversion factors (CFs).
- The findings showed that most participating laboratories could effectively monitor molecular response in samples, highlighting that secondary reference panels provide a reliable method for quality assurance in CML testing.
Article Synopsis
- Researchers studied 471 patients aged 60 or older with a type of leukemia called acute myeloid leukemia (AML) to create a tool that predicts how long they might survive after treatment.
- They found that certain gene mutations in these patients affected their chances of survival, especially for those with poor genetic conditions.
- The new decision tool can help doctors figure out the best treatment plans based on the patients' genetic info and can be used in future clinical trials.
Article Synopsis
- - The study found that including mutation status enhances risk assessment for newly diagnosed chronic myelomonocytic leukemia (CMML) patients, aiding in patient selection for stem cell transplantation.
- - Specifically, mutations in ASXL1 and NRAS were linked to worse survival post-transplant, and a new prognostic score was developed to categorize risk based on these mutations and other clinical factors.
- - This CMML transplant score effectively predicts survival and non-relapse mortality, assigning scores based on genetic indicators and comorbidities, thereby outperforming previous scores and aiding in personalized treatment strategies.
Article Synopsis
- The study looked at how different gene mutations affect the health of people with myelofibrosis, a type of blood disease.
- Researchers analyzed 479 patients and grouped them based on specific mutations to see how these groups relate to worsening conditions or death.
- They found that mutations in certain genes like TP53 and high-risk genes made it more likely for patients to get worse or die, while a mutation in the ASXL1 gene alone didn’t have a significant negative impact.
Article Synopsis
- ABCB1 is an ATP binding cassette transporter that is linked to poor outcomes in acute myeloid leukemia (AML) patients undergoing chemotherapy, but its exact role in drug resistance is not fully understood.
- In a study of 321 AML patients, high ABCB1 activity correlated with lower white blood cell counts and specific gene expressions, indicating a potential relationship with the disease's severity.
- However, ABCB1 activity did not directly cause drug resistance to treatment, and inhibiting ABCB1 did not improve patient outcomes, suggesting it may just be a characteristic of high-risk AML rather than a direct cause of resistance.
Article Synopsis
- In the context of chronic myeloid leukemia (CML) that doesn't respond to tyrosine kinase inhibitors (TKIs), BCR-ABL1 tyrosine kinase domain (TKD) mutations are crucial for guiding treatment decisions.
- A panel of experts emphasizes the importance of mutation testing, recommending it primarily in cases of treatment failure, while suggesting discussions for patients facing moderate warning signs based on specific factors.
- Next-generation sequencing (NGS) is recommended for its superior sensitivity in detecting mutations, with therapeutic choices based on the specific mutations identified and their resistance implications, while the utility of even more sensitive testing methods remains to be understood.
Article Synopsis
- High-risk myelodysplastic syndrome and acute myeloid leukemia patients often experience poor survival rates after treatment with azacitidine, prompting the investigation of the novel drug guadecitabine.
- In a phase II study involving 56 patients with a median age of 75, guadecitabine showed an 14.3% response rate, with some patients achieving prolonged survival, particularly those with fewer genetic mutations.
- Overall survival for the group was 7.1 months, with responders living significantly longer, and factors like initial azacitidine failure type and blood demethylation rates influencing survival outcomes.
Assessment of minimal residual disease has emerged as a powerful prognostic factor in acute myeloid leukemia. In this study, we investigated the potential of mutations as targets for minimal residual disease assessment in acute myeloid leukemia, since these mutations collectively occur in 15-20% of cases of acute myeloid leukemia and now represent druggable targets. We employed droplet digital polymerase chain reaction assays to quantify , , and mutations on genomic DNA in 322 samples from 103 adult patients with primary mutant acute myeloid leukemia and enrolled on Acute Leukemia French Association (ALFA) - 0701 or -0702 clinical trials.
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- The study investigates the impact of alterations in the p53 tumor-suppressor gene in Waldenstrom's macroglobulinemia (WM), a type of blood cancer, by analyzing genetic data from 125 WM patients and 10 control patients with IgM monoclonal gammopathy of undetermined significance (MGUS).
- Researchers found that 11.2% of WM patients had significant alterations in the p53 locus, with mutations present in 7.3% at diagnosis and linked to poor outcomes and more genomic abnormalities.
- The presence of these alterations was associated with shorter overall survival rates in WM patients, especially those with symptoms, highlighting the importance of genetic testing to guide treatment decisions and possibly explore targeted therapies like Nut
Article Synopsis
- * In a study with two cohorts, skipping of TET2 exon 2 (TET2E2S) was independent of age and cytogenetics and associated with a significantly lower risk of relapse and improved survival, especially in younger patients with cytogenetically normal AML.
- * TET2E2S was the only prognostic factor for overall survival and positively influenced survival across various genetic risk categories, suggesting that monitoring TET2 exon 2 splicing could enhance patient risk assessments in AML treatments.
The monitoring of the minimal residual disease by Wilms' tumor 1 expression (MRD) is a standardized test, which can be used in over 80% of patients with AML. To investigate the prognostic value of MRD in patients undergoing allogeneic stem cell transplantation (allo-SCT) for AML, MRD was monitored 3 months after transplantation in 139 patients. MRD positivity did not lead to any therapeutic intervention.
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- This study evaluated the impact of NPM1-mutated minimal residual disease (MRD) on young adult patients with acute myeloid leukemia (AML) to see if it could help predict the benefits of stem cell transplantation.
- Among 152 patients analyzed after induction therapy, those with less than a 4-log reduction in MRD had a significantly higher chance of relapse and shorter overall survival.
- The findings suggest that early NPM1m MRD evaluation is a crucial prognostic tool and can guide decisions regarding the use of allogeneic stem cell transplantation in patients with unfavorable AML.