Publications by authors named "Veronique Gelsi-Boyer"
Article Synopsis
- Elderly AML patients (60-75 years) with poor-risk cytogenetics typically have poor outcomes with intensive chemotherapy, but the effectiveness of Venetoclax (VEN) combined with other treatments is being studied.
- A study at Institut Paoli Calmettes involved comparing 26 patients treated with VEN to a historical cohort of 90 patients treated with intensive chemotherapy, focusing on treatment response and overall survival rates.
- The findings suggested that VEN showed promising results, with a 69% composite response rate and a median overall survival of 7.9 months, making it a potential alternative to intensive chemotherapy for high-risk elderly patients.
Article Synopsis
- The LSC-17 score, based on a gene expression profile related to stemness, indicates poor outcomes in acute myeloid leukemia (AML), but how leukemic stem cell anchoring affects disease progression is unclear.
- Conditional inactivation of the adhesion molecule JAM-C in a mouse model of AML showed that its deletion affected HSC expansion but not disease initiation or progression, revealing insights into leukemic cell behavior in the bone marrow niche.
- Findings suggest that the AP-1/TNF-α gene signature, which correlated with different prognosis in AML, provides additional prognostic information alongside the LSC-17 score, highlighting the importance of niche interactions in leukemia.
Acute erythroid leukemia (AEL) is a rare (2%-5%) form of acute myeloid leukemia (AML). Molecular alterations found in AEL resemble those of other AMLs. We report a classification of AELs in three major classes, with different prognosis and some specific features such as a tendency to mutual exclusion of mutations in epigenetic regulators and signaling genes.
View Article and Find Full Text PDFVenetoclax (VEN) belongs the BH3-mimetic class that selectively targets BCL-2, activating apoptosis. The combination of VEN and azacitidine (AZA) has changed the paradigm of treatment of newly diagnosed (ND) acute myeloid leukemia (AML) patients ineligible for intensive chemotherapy. There is scarce evidence for the use of VEN-AZA for relapsed or refractory (R/R) AML.
View Article and Find Full Text PDFAcute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden.
View Article and Find Full Text PDFBackground: We conducted a monocentric retrospective study of patients with myelodysplastic syndromes (MDS) and autoimmune or inflammatory disorders (AIMs) and a literature review. We analyzed the association with subgroups of the WHO 2016 MDS classification and patient's survival in a case control study. Risk factors associated with survival were analyzed by uni- and multivariate analysis.
View Article and Find Full Text PDFMyelodysplastic syndromes with single neutropenia or thrombocytopenia are rarely refractory cytopenias with unilineage dysplasia by World Health Organization 2008 criteria and have favourable prognosis.
Br J Haematol
December 2016
Article Synopsis
- Acute myeloid leukemias with myelodysplasia-related changes (AML-MRC) show multilineage dysplasia and can be linked to certain genetic mutations.
- A study of 125 AML-MRC patients discovered that mutations in ASXL1 are linked to worse survival rates and more severe bone marrow issues, while TP53 mutations are connected with complex genetic patterns and poor outcomes.
- The findings suggest that identifying ASXL1 and TP53 mutations can help classify AML-MRC patients more accurately and predict their prognosis.
Article Synopsis
- Chronic myelomonocytic leukemia (CMML), previously classified under myelodysplastic syndromes (MDSs), is now recognized as a mix of MDS and myeloproliferative neoplasms based on white blood cell counts.
- The study analyzed mutations in 19 specific genes in CMML and identified four major mutation pathways (DNA methylation, ASXL1, splicing, and signaling) that affect prognosis differently between the two classes.
- Results showed that the number of mutated pathways influenced overall survival in the myelodysplastic class but not in the myeloproliferative class, suggesting a need for reclassification of CMML based on these findings.
Patients with low-risk myelodysplastic syndromes (MDS) that rapidly progress to acute myeloid leukemia (AML) remain a challenge in disease management. Using whole-exome sequencing of an MDS patient, we identified a somatic mutation in the BCOR gene also mutated in AML. Sequencing of BCOR and related BCORL1 genes in a cohort of 354 MDS patients identified 4.
View Article and Find Full Text PDFArticle Synopsis
- Myelofibrosis can occur as a primary disease or as a complication in patients with conditions like polycythemia vera or essential thrombocythemia, leading to two types: primary and secondary myelofibrosis.
- A study of 104 samples from 80 patients revealed that 54% had significant genetic alterations, and specific deletions were linked to progression into acute myeloid leukemia.
- The research found a high mutation rate (88%) in key signaling and epigenetic genes, which correlated with poor patient survival, particularly in those with multiple mutations or specific gene mutations like JAK2/ASXL1.
Purpose: Several prognostic scoring systems have been proposed for chronic myelomonocytic leukemia (CMML), a disease in which some gene mutations-including ASXL1-have been associated with poor prognosis in univariable analyses. We developed and validated a prognostic score for overall survival (OS) based on mutational status and standard clinical variables.
Patients And Methods: We genotyped ASXL1 and up to 18 other genes including epigenetic (TET2, EZH2, IDH1, IDH2, DNMT3A), splicing (SF3B1, SRSF2, ZRSF2, U2AF1), transcription (RUNX1, NPM1, TP53), and signaling (NRAS, KRAS, CBL, JAK2, FLT3) regulators in 312 patients with CMML.
Article Synopsis
- * Researchers analyzed gene expression profiles from both CMML and myelodysplastic samples, identifying unique gene signatures that differentiate between proliferative and dysplastic cases of CMML as well as different types of myelodysplastic syndromes.
- * Findings indicate that myelodysplastic CMML shows mutations in specific genes related to transcription and splicing, while lacking mutations in signaling genes, suggesting a complex relationship with similar disorders like refractory anemias with ring sideroblasts.
Article Synopsis
- - Myeloid malignant diseases include both chronic (like myelodysplastic syndromes) and acute forms (such as acute myeloid leukemia), originating from mutations in hematopoietic stem or progenitor cells.
- - Key mutations are found in several gene classes, including signaling pathway proteins, transcription factors, epigenetic regulators, tumor suppressors, and spliceosome components.
- - Ongoing large-scale sequencing will improve the understanding and classification of these diseases, allowing for new prognostic markers and therapies, particularly focusing on drugs that target epigenetic deregulation.
Article Synopsis
- The study analyzed 48 patients with "AML with myelodysplasia-related changes" (MRC-AML) to identify specific genetic mutations associated with this form of leukemia.
- Key findings included a high frequency of ASXL1 mutations (35%) and lower rates of other mutations like NPM1, FLT3, and DNMT3A compared to a control group with non-MRC-AML.
- Additionally, the complete remission rate after treatment was significantly lower in the MRC-AML group (48%) compared to the non-MRC-AML group (78%).
Article Synopsis
- The study investigates gene mutations in non-chronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), focusing on three classic subtypes: polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF).
- JAK2 was consistently mutated across all MPN types, with 100% in PV, 66% in ET, and 68% in MF, highlighting its significance in these conditions.
- High rates of ASXL1 mutations were observed specifically in MF patients (20%), while mutations in other genes like CBL, DNMT3A, and others were rare or absent in the MPN cohort studied.
Article Synopsis
- * Mutations in ASXL1 are linked to serious conditions like myeloproliferative neoplasms, myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia.
- * These mutations tend to indicate a more aggressive disease course and worse patient outcomes, making it important to routinely assess ASXL1 status for better prognosis predictions.
A cohort of MDS patients was examined for mutations affecting 4 splice genes (SF3B1, SRSF2, ZRSR2, and U2AF35) and evaluated in the context of clinical and molecular markers. Splice gene mutations were detected in 95 of 221 patients. These mutations were mutually exclusive and less likely to occur in patients with complex cytogenetics or TP53 mutations.
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