Publications by authors named "Abdelali R"
Article Synopsis
- Patients with Fanconi anemia (FA) show chromosome instability, leading to exhaustion of hematopoietic stem cells and a higher risk of developing poor-prognosis myeloid leukemia.
- A study involving 62 patients revealed unique mutations and structural variants that resemble BRCA-related cancers, with many patients showing chromosome 1q gain linked to MDM4 trisomy, which downregulates p53 signaling.
- MDM4 triplication not only enhances the survival of FA stem cells but also promotes leukemia development, suggesting that targeting MDM4 could be a potential therapeutic strategy to disrupt this pathway.
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
- FIP1L1-PDGFRA-positive myeloid neoplasm with eosinophilia (F/P+ MN-eo) is a rare condition with limited epidemiological data; a retrospective study analyzed 151 patients in France from 2003-2019.
- Imatinib mesylate (IM) is very effective, with 98% of treated patients achieving complete hematologic and molecular responses; however, a significant percentage of patients relapsed after stopping IM.
- Factors such as the timing of IM initiation and duration of treatment were identified as independent predictors of relapse, suggesting that early and prolonged treatment may help reduce the chances of relapse.
Article Synopsis
- MiR-31-3p is identified as a potential biomarker for predicting how well patients with RAS wild-type metastatic colorectal cancer respond to anti-EGFR therapy.
- A new RT-qPCR assay was developed and validated to measure miR-31-3p levels in formalin-fixed paraffin-embedded tumor samples.
- The study confirmed that the assay is reliable, with consistent performance across various conditions and PCR platforms, indicating it's feasible to quantify miR-31-3p in clinical samples.
Recent advances in genomic technologies have revolutionized acute myeloid leukemia (AML) understanding by identifying potential novel actionable genomic alterations. Consequently, current risk stratification at diagnosis not only relies on cytogenetics, but also on the inclusion of several of these abnormalities. Despite this progress, AML remains a heterogeneous and complex malignancy with variable response to current therapy.
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- The study investigated the effectiveness of azacitidine alone versus azacitidine combined with epoetin-β in patients with lower-risk myelodysplastic syndromes who were resistant to previous treatments.
- Out of 98 patients, the likelihood of achieving transfusion independence after six cycles was similar between the two treatment groups (16.3% for azacitidine alone and 14.3% for the combination).
- Key findings highlighted that mutations in the SF3B1 gene were linked to a better response, while certain genetic abnormalities indicated worse overall survival rates, suggesting limited benefit from combining treatments.
Article Synopsis
- The study demonstrated that adding gemtuzumab ozogamicin (GO) to standard chemotherapy improves outcomes for acute myeloid leukemia (AML) patients, particularly those with cytogenetically normal (CN) AML.
- Genetic analysis of 278 AML patients showed that 38% had SNP-A lesions and most had molecular alterations, with unfavorable karyotype and specific gene mutations linked to higher relapse rates and shorter overall survival.
- CN-AML patients showed greater benefit from GO treatment compared to those with abnormal cytogenetics, suggesting potential for personalized therapy based on genetic profiles.
Article Synopsis
- * SET-NUP214-positive patients show a significantly higher resistance to corticosteroids (91%) and chemotherapy (100%) compared to those without the fusion gene, who have resistance rates of 44% for both treatments.
- * Despite the challenges in early treatment, nearly all SET-NUP214-positive patients achieved complete remission, and their overall outcomes were similar to those of patients without the fusion gene.
Article Synopsis
- The GRAALL study found that adult T-cell acute lymphoblastic leukemia (T-ALL) patients with NOTCH1 and/or FBXW7 (N/F) mutations have better outcomes, but one-third still relapse despite this.
- Among 212 adult T-ALL cases, 67% had N/F mutations; lacking these mutations correlated with poorer prognosis, while specific mutations in K-RAS, N-RAS, and PTEN were rare.
- A new classification system was proposed that identifies low-risk patients as those with N/F mutations without RAS/PTEN abnormalities, highlighting significant differences in event-free and overall survival rates between low-risk and high-risk groups.
Article Synopsis
- * In adult patients, CALM-AF10 is often found in those lacking T-cell receptors, which is linked to poorer overall survival rates, particularly in those with early T-cell precursor phenotypes.
- * The fusion protein is more prevalent in early T-cell precursor ALL, highlighting a specific group of patients with significantly worse treatment outcomes, indicating the need for further research on its implications in different age groups.
Article Synopsis
- Chromosomal rearrangements of the MLL gene at 11q23 are common in infant acute myeloid leukemia, with reciprocal translocations being the most frequent.
- A specific case is reported of a 23-month-old child with acute myeloid leukemia featuring a t(11;22) translocation, which involved the SEPT5 gene on chromosome 22.
- The study utilized fluorescence in situ hybridization and inverse-polymerase chain reaction to confirm the MLL-SEPT5 fusion, highlighting its rarity and reviewing the clinical and molecular aspects of this unique genetic alteration.
Article Synopsis
- The study focuses on chromosomal translocations involving T-cell receptor (TCR) loci in T-cell acute lymphoblastic leukemia (T-ALL), which are common mutations thought to arise from faulty DNA recombination.
- Researchers screened 280 T-ALL samples and discovered four new oncogene partners associated with TCR translocations that haven’t been previously reported.
- The findings suggest that most oncogene breakpoints are not caused by recombination, and they reveal important differences in how TCRβ and TCRα/δ translocations activate oncogenes, indicating a need for early intervention in therapy.
Constitutively activated FLT3 signaling is common in acute myeloid leukemia, and is currently under evaluation for targeted therapy, whereas little data is available in T-cell acute lymphoblastic leukemia (T-ALL). We analyzed 357 T-ALL cases for FLT3 mutations and transcript expression. FLT3 mutations (3% overall) and overexpression (FLT3 high expresser (FLT3(High))) were restricted to immature/TCRγδ T-ALLs.
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- Pediatric T-cell lymphoblastic lymphomas (T-LBL) are often treated using protocols designed for T-cell acute lymphoblastic leukemia (T-ALL), but identifying effective treatment strategies through molecular prognostic markers is crucial for improving patient outcomes.
- In a study involving 54 patients, researchers found that mutations in NOTCH1/FBXW7 were present in 55% of cases and linked to significantly better survival rates.
- The study concludes that assessing NOTCH1/FBXW7 mutations can provide an early indication for therapeutic stratification, suggesting its potential as an important prognostic marker in T-LBL.
Article Synopsis
- Recent advances in understanding acute lymphoblastic leukemia (T-ALL) have identified low ERG/BAALC expression and NOTCH1/FBXW7 mutations as key prognostic markers, but their effectiveness in therapeutic stratification remains unclear.
- A study comparing these markers in 232 adult T-ALL patients found that those with N/F mutations had better outcomes, especially when treated under pediatric-inspired GRAALL protocols, as opposed to the LALA-94 trial.
- Ultimately, the N/F mutation status and the treatment protocol were identified as the most significant factors influencing long-term survival in adult T-ALL patients, highlighting the advantages of pediatric-based treatments for those with N/F mutations.
Article Synopsis
- The study focused on comparing the effectiveness and reproducibility of an automated assay (Xpert BCR-ABL Monitor™) versus non-automated methods for monitoring chronic myeloid leukemia patients treated with tyrosine kinase inhibitors.
- Results showed that the automated assays had similar reproducibility to standardized non-automated assays, and converting automated results to the international scale was feasible, though cost-effectiveness favored automation for lower sample volumes.
- The findings suggest that the Xpert BCR-ABL Monitor™ could be used effectively in routine clinical settings, but further research is needed to determine its prognostic value compared to non-automated methods.
Article Synopsis
- - Activating mutations in the JAK1 gene are linked to acute lymphoblastic leukemia (ALL), and these mutations create a specific response to type I interferons (IFNs) in cancer cells.
- - The study demonstrated that different JAK1 mutations enhance the sensitivity of ALL cells to type I IFNs, revealing that the nature of the mutation can affect how cells respond to various cytokines.
- - In experiments using a leukemia model, cells with the JAK1(A634D) mutation showed increased susceptibility to the effects of type I IFN, indicating that targeting type I IFNs could be a viable treatment option for ALL patients with these mutations.
Chromosomal rearrangements of the human MLL gene are associated with high-risk pediatric, adult and therapy-associated acute leukemias. These patients need to be identified, treated appropriately and minimal residual disease was monitored by quantitative PCR techniques. Genomic DNA was isolated from individual acute leukemia patients to identify and characterize chromosomal rearrangements involving the human MLL gene.
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- Activation of tyrosine kinase genes, like JAK2, is common in blood cancers, prompting researchers to look for mutations linked to high gene expression.
- In a study of 90 acute leukemia cases, a new mutation called JAK2DeltaIREED was discovered in a Down syndrome patient with B-cell precursor acute lymphoblastic leukemia.
- This mutation leads to constant activation of the JAK-STAT signaling pathway, suggesting its role in childhood lymphoid cancers and linking it to hematologic issues in individuals with Down syndrome.
A complete blood analysis with a careful morphologic examination of peripheral blood and bone morrow smears completed by cytochemical reaction will help to classify the most acute myeloid leukaemia (AML). Actually, the study of other cytogenetis and immunophenotypic markers are now necessary to confirm diagnosis. The World Health Organisation WHO classification (2001) incorporates theses approaches.
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