Publications by authors named "Chomel J"
Article Synopsis
- - Acute myeloid leukemia (AML) with a specific fusion gene is now recognized as a unique subtype, making it crucial to differentiate it from myeloid blast crisis chronic myeloid leukemia (BC-CML), particularly those without a chronic phase.
- - The study analyzed a diverse cohort of CML and AML patients, revealing that the fusion functioned as an essential genetic marker in characterizing AML, while also unearthing AML-specific mutations and distinct gene expression patterns.
- - Findings indicate that specific gene expressions, particularly of mRNAs like ID4, can help differentiate AML with the fusion from BC-CML, suggesting that further research is needed to validate these distinctions and deepen the understanding of this AML subtype.
Article Synopsis
- F-FDG PET/CT is important for diagnosing and monitoring Hairy Cell Leukemia (HCL), especially in atypical cases with bone involvement.
- The study highlighted two patients with BRAF mutation who had significant bone lesions and limited bone marrow infiltration, demonstrating the utility of F-FDG PET/CT.
- The authors emphasize integrating F-FDG PET/CT into standard HCL management to improve patient outcomes and detect less common manifestations.
Article Synopsis
- Myeloproliferative neoplasms in the blastic phase (MPN-BP) have a poor prognosis, but a study on five patients showed promising results with a new treatment combining azacytidine, venetoclax, and ruxolitinib.* -
- The patients, aged between 72 and 84, had an overall response rate of 80%, with 40% achieving complete remission during a median follow-up of 10 months.* -
- There were no unexpected toxicities from the treatment, and the patients experienced an improved quality of life, with a median overall survival of 13.4 months.*
Article Synopsis
- - The study investigates the role of a specific oncofetal protein as a potential biomarker for chronic myeloid leukemia (CML), which is a cancer affecting blood-forming cells caused by genetic changes.
- - Researchers employed various techniques, including cell culture and ELISA, to demonstrate that this protein is overexpressed in CML patients and may be linked to the disease's progression and severity.
- - Findings indicate that the protein is upregulated in a kinase-dependent way and may significantly contribute to the mechanisms driving leukemogenesis in CML.
Article Synopsis
- The study aimed to create an in vitro model of chronic myeloid leukemia (CML) progression, focusing specifically on the blast crisis stage, to discover new treatment targets.
- Researchers mutagenized different CML-derived induced pluripotent stem cell (iPSC) lines using the alkylating agent ENU, examining their properties after 12 days of hematopoietic differentiation, including their gene expression.
- Results showed that one mutated iPSC line produced myeloid blasts with specific markers and displayed a delayed differentiation compared to controls, highlighting CD25 as a potential marker for CML progression in patients.
Article Synopsis
- * A total of 79 patients participated, and the primary goal was to assess the cumulative molecular response rates over 12 months, with results showing significant rates of deep molecular response at 5 years.
- * While grade 3 neutropenia was common, it didn't lead to severe infections, and most patients continued the Peg-IFN treatment for a substantial time, resulting in notable molecular response rates after 12 and 24 months.
Article Synopsis
- Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by faulty NADPH in leukocytes, leading to frequent infections and inflammation.
- The condition is mainly due to mutations in the CYBB gene, predominantly affecting males, but females can also show symptoms based on their X-inactivation patterns.
- A case study highlights a 67-year-old asymptomatic female carrier diagnosed with CGD after developing a rare fungal skin infection, revealing the importance of monitoring carriers for late onset diseases.
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
- - The SPIRIT trial is a long-term study that compares the effectiveness of various treatments for chronic-phase chronic myeloid leukaemia (CML), involving 787 patients followed for an average of 13.5 years.
- - Overall and progression-free survival rates after 15 years were similar across four treatment groups, ranging from 80% to 87%, suggesting comparable effectiveness of different combinations.
- - The combination of imatinib with pegylated interferon alpha2a resulted in significantly better molecular response rates compared to imatinib alone, although toxicity led to treatment cessation for some patients.
Article Synopsis
- - Among myeloproliferative neoplasms, polycythemia vera (PV) and essential thrombocythemia (ET) are chronic conditions that can evolve into leukemia, although this progression is rare and has a poor prognosis.
- - A study involving 49 cases of leukemic transformations in PV and ET identified three distinct molecular groups that correlate with different timelines for transformation based on specific genetic mutations.
- - The research revealed that some mutations were present during the chronic phase of the disease, but not all mutations were detectable before the onset of leukemia, indicating that the transformation process may involve varying molecular mechanisms over time.
Article Synopsis
- Long-term treatment-free remission (TFR) is a new goal for chronic myeloid leukemia (CML) patients, and dose reductions of tyrosine kinase inhibitors (TKIs) may enhance life quality while minimizing side effects.
- A study analyzed 77 CML patients who stopped TKIs, focusing on 26 who were on low-dose TKIs before discontinuation, with results showing that low-dose patients had better TFR rates compared to those on full doses.
- The findings suggest that low-dose TKIs do not negatively affect TFR, but further randomized clinical trials are needed to confirm these results and better understand the potential of TKI dose reductions prior to stopping treatment.*
Article Synopsis
- * A study using a single-cell analysis on CD34+ cells from three CML patients identified 13 key genes connected to stem cell characteristics and uncovered four distinct clusters with seven different stem cell states.
- * Pluripotency gene expression was common in all analyzed CML patients, indicating that effective treatment should target multiple pathways to address leukemic stem cell survival.
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
- - The study explores the variability in how human pluripotent stem cells (hPSCs) can differentiate into blood cells and identifies that this ability is linked to the expression of specific microRNAs (miRNAs), especially miR-206.
- - Researchers found that increasing miR-206 in capable embryonic stem cells hindered their ability to develop into blood cells and uncovered a network of target genes that includes crucial regulators for blood cell formation, like RUNX1 and TAL1.
- - This research highlights the importance of miR-206 in blood cell development from hPSCs, offering insights for future genetic modifications to enhance blood cell generation and improve protocols for creating hPSC-derived hematopoietic stem cells. !*
Article Synopsis
- The study focuses on the immune mechanisms behind treatment-free remission (TFR) in chronic myeloid leukemia (CML), highlighting the lack of defined correlations with CD8(+) T-cell types.
- Researchers identified a new subset of CD8(+) T-cells called innate CD8(+) T-cells in CML patients who enjoyed TFR for over two years, showing a significant increase in their functionality compared to control and treated patients.
- The findings suggest a positive relationship between the levels of innate CD8(+) T-cells and natural killer cells, indicating a potential new biomarker profile for successful TFR in CML patients.
Article Synopsis
- A study reports on a patient with AML-M2 who has a unique NUP98-LEDGF gene fusion, showing three different fusion mRNAs due to alternative splicing.
- High-throughput sequencing identified additional mutations (IDH1, SRSF2, WT1) in this patient, and a real-time PCR method was developed for monitoring NUP98-LEDGF mRNA levels.
- Following a poor response to traditional chemotherapy, the patient underwent stem cell transplantation and subsequent azacitidine treatment, ultimately achieving complete molecular remission 25 months post-transplant.
Article Synopsis
- The BCR-ABL oncogene, linked to chronic myeloid leukemia (CML), activates various signaling pathways in leukemic cells, leading to treatment challenges like resistance to tyrosine kinase inhibitors (TKIs) and disease progression.
- A study using a BCR-ABL-expressing UT-7 cell line identified over 2000 genes with altered expression, with ETS1 being the most significantly upregulated, indicating its role in CML.
- Increased ETS1 mRNA levels were found in CML patient blood samples, and certain genes related to ETS1 expression were associated with poor response to imatinib therapy, highlighting ETS1's potential impact on disease progression and treatment outcomes.
Article Synopsis
- - SOD2 is important for antioxidant defense, and this study investigates its potential link to genetic instability in Chronic Myeloid Leukemia (CML), specifically how silencing SOD2 affects chromosomal stability in cell lines expressing BCR-ABL mutations.
- - Researchers found that SOD2 silencing led to significant genetic instability in specific chromosomal regions and observed lower SOD2 mRNA levels in CML patients, correlating with increased disease severity indicators like leukocytosis and Sokal score.
- - The study suggests that reduced SOD2 expression may contribute to a mutator phenotype in CML patients undergoing Tyrosine Kinase Inhibitor (TKI) therapies, highlighting the need for further research into