Publications by authors named "Hayette S"
Article Synopsis
- MENin-KMT2A inhibitors (MENi) are new drugs being tested for treating specific types of acute myeloid leukemia (AML), particularly KMT2Ar and NPM1 cases.
- A 71-year-old woman treated with the MENi revumenib (REV) for relapsed NPM1 AML developed a serious skin condition resembling pyoderma gangrenosum after two weeks.
- This case is significant as it is the first documented instance of MENi causing this type of skin condition, emphasizing the need to monitor for severe skin-related side effects in patients undergoing treatment with MENi.
Purpose: quantification is widely regarded as the standard for monitoring measurable residual disease (MRD) in Philadelphia chromosome-positive (Ph+) ALL. However, recent evidence of multilineage involvement questions the significance of MRD. We aimed to define the prognostic role of MRD as assessed by or lymphoid-specific immunoglobulin/T-cell receptor () gene markers.
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- High-throughput sequencing is crucial for diagnosing blood cancers, but understanding missense mutations is still difficult.
- This study used the AlphaMissense database to evaluate how well machine learning can help predict the effects of these mutations for better interpretation.
- Analysis of 2073 variants from 686 patients showed that AlphaMissense predictions were highly accurate (AUC of ROC curve 0.95) and highlighted discrepancies with current clinical interpretation methods.
Article Synopsis
- - The study evaluated the effectiveness and costs of next-generation sequencing (NGS) in treating various hematological cancers in both pediatric and adult patients, collecting data from 26 laboratories with differing practices.
- - Results showed that NGS influenced treatment management for 73.4% of cases, particularly providing prognostic information and aiding treatment adaptations, though about 18.9% of prescriptions had no immediate impact on therapy.
- - The average cost for NGS samples was 191 €, with variations based on the type of panel used, highlighting the need for clear discussions about precision medicine's effects on patient care and financial implications.
Background: t-AML occurs after a primary malignancy treatment and retains a poor prognosis.
Aims: To determine the impact of primary malignancies, therapeutic strategies, and prognostic factors on clinical outcomes of t-AML.
Results: A total of 112 adult patients were included in this study.
Efficacy and safety of nilotinib in chronic myeloid leukaemia patients who failed to achieve a treatment-free remission period after imatinib discontinuation: Results of the French Nilo post-STIM study.
Br J Haematol
June 2023
Article Synopsis
- Molecular recurrence (MRec) affects about 50% of chronic myeloid leukaemia (CML) patients who stop taking tyrosine kinase inhibitors (TKI) and occurs despite achieving sustained deep molecular responses.
- In a study involving 31 patients, 23 who switched to nilotinib (300 mg twice daily) maintained their molecular response for an average of 22 months, while seven experienced serious side effects leading to treatment discontinuation.
- The study found that 59.1% of patients remained treatment-free and maintained molecular response 24 months after stopping nilotinib, and 42.1% maintained it at 48 months, indicating promising results
Article Synopsis
- Current guidelines for chronic lymphocytic leukemia (CLL) recommend checking the IGHV gene mutation status before starting treatment, but traditional NGS methods face limitations in cost and technical requirements.
- The new Next-CLL method allows for IGHV mutation analysis using standard NGS devices, streamlining the process in routine labs and demonstrating higher reliability compared to traditional Sanger sequencing.
- Validation of Next-CLL showed perfect concordance with reference techniques and no significant bias in IGHV usage, making it a practical and effective tool for evaluating prognosis and treatment options for CLL patients.
Article Synopsis
- Allogeneic hematopoietic stem cell transplantation (allo-HSCT) using FLAMSA-Bu is a treatment option for high-risk acute myeloid leukemia (AML) patients, particularly those who are refractory or have relapsed.
- A study of 165 patients showed that detectable minimal residual disease (MRD) before transplantation was linked to worse overall survival (OS) and higher relapse rates following the procedure.
- The findings highlight that pre-transplant MRD status is a crucial indicator of patient outcomes, with MRD negativity correlated to better survival and reduced relapse risk, while factors such as age and risk stratification did not significantly impact outcomes.
Article Synopsis
- 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.
We report a case of donor-derived leukemia (DDL) occurring 34 months after double-unit cord blood transplantation (CBT). Molecular analysis using short tandem repeat (STR) sequences proved the acute myeloid leukemia (AML) to be of dominant cord blood origin. Karyotype was normal and molecular analysis showed WT1 and EVI1 overexpression.
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- * The GBMHM has organized External Evaluation of Quality (EEQ) programs and training for 64 French labs, focusing on standardizing tests like V617F and lymphoid clonality.
- * A study analyzed quality control results over 10 years, showing that these initiatives led to improved technical performance and reproducibility of test results across labs adhering to national guidelines.
WT1 overexpression is frequently identified in acute myeloid leukemia (AML) and has been reported to be a potential marker for monitoring measurable residual disease (MRD). We evaluated the use of postinduction WT1 MRD level as a prognostic factor, as well as the interaction between postinduction WT1 MRD response and the effect of allogeneic stem cell transplantation (allo-SCT) in the first complete remission (CR). In the ALFA-0702 trial, patients with AML, aged 18 to 59, had a prospective quantification of WT1 MRD.
View Article and Find Full Text PDFRecently, a new subset of acute myeloid leukemia (AML) presenting a direct partial tandem duplication (PTD) of the gene was described. The consequences of this alteration in terms of outcome and response to treatment remain unclear. We analyzed retrospectively a cohort of -mutated patients with newly diagnosed AML.
View Article and Find Full Text PDFMinimal residual disease (MRD) is now a powerful surrogate marker to assess the response to chemotherapy in acute myeloid leukemia (AML). mutation has been associated with adverse outcomes. In this study, we aimed to investigate the impact of status on NPM1 MRD predictive value for survival in a retrospective cohort of AML patients aged over 60 years old treated intensively.
View Article and Find Full Text PDFRNA sequencing holds great promise to improve the diagnostic of hematological malignancies, because this technique enables to detect fusion transcripts, to look for somatic mutations in oncogenes, and to capture transcriptomic signatures of nosological entities. However, the analytical performances of targeted RNA sequencing have not been extensively described in diagnostic samples. Using a targeted panel of 1385 cancer-related genes in a series of 100 diagnosis samples and 8 controls, we detected all the already known fusion transcripts and also discovered unknown and/or unsuspected fusion transcripts in 12 samples.
View Article and Find Full Text PDFAs the impact of targeted next-generation sequencing (TNGS) on daily diagnosis has not been evaluated, we performed TNGS (46 genes) on lymphomas of unclear subtype following expert haematopathological review. The potential impact on patient care and modifications of final diagnosis were divided into major and minor changes according to the European Society of Medical Oncology (ESMO) guidelines. Among 229 patients [19 primary central nervous system lymphomas (PCNSL), 48 large B-cell lymphomas (LBCLs), 89 small BCLs (SBCLs), seven Hodgkin lymphomas (HL), 66 T-cell lymphomas], the overall concordance rate of histological and TNGS diagnosis was 89·5%.
View Article and Find Full Text PDFIntroduction: EVI1 (MECOM)-positive acute myeloid leukemia (AML) cells have shown in vitro sensitivity to all-trans-retinoic acid (ATRA) by inducing differentiation, cell death, and decreased leukemic engraftment.
Methods: In this pilot study, we investigated the response to ATRA in 13 high-risk AML patients with overexpression of EVI1.
Results: Seven of the 13 patients (53.
Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the presence of transcript as a result of reciprocal translocation between chromosome 9 and 22. The most common transcripts subtypes are e13a2 (b2a2) and e14a2 (b3a2). The prognostic impact of the type of transcript has been the subject of controversies over time.
View Article and Find Full Text PDFAn amendment to this paper has been published and can be accessed via a link at the top of the paper.
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- 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.