Publications by authors named "Anne Murati"
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
- A low allele burden (<20%) of the CALR driver mutation is present in 10.8% of patients with CALR-mutated myeloproliferative neoplasms (MPNs), primarily seen in essential thrombocythemia.
- Patients with this low allele burden tend to have a milder disease phenotype.
- Those with less than 20% allele burden also experience a slower progression of their condition compared to patients with a higher allele burden (≥20%).
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
- - 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
- In myeloproliferative neoplasms (MPN), the measurement of the JAK2V617F allele burden is important for patient prognosis, but the role of CALR mutations is less defined.
- A study involving 45 CALR-mutated essential thrombocythaemia patients combined next-generation sequencing with CALR allele burden evaluation and found TET2 as the most common mutation.
- The research revealed that an increase in CALR allele burden during follow-up is linked to disease progression, suggesting that monitoring this allele may have clinical significance.
Article Synopsis
- Myelofibrosis (MF) can be primary (PMF) or secondary (SMF) and is associated with a higher risk of acute myeloid leukemia (AML) and shorter life expectancy.
- A study using next generation sequencing found that PMF has more ASXL1 and SRSF2 mutations compared to SMF, with specific mutations indicating poorer survival rates in both forms.
- PMF and SMF show distinct molecular profiles influencing their prognosis, suggesting that integrating genetic mutations with existing scoring systems could enhance patient outcome assessments.
Article Synopsis
- The study aimed to understand the molecular changes that occur as lymphomatoid papulosis (LyP) evolves into cutaneous anaplastic large-cell lymphoma (c-ALCL) and lymph node invasion (LNI).
- Researchers analyzed nine tumors from a single patient who experienced both LyP and c-ALCL along with other types of lymphoma, finding a common T-cell origin for the CD30+ lesions and a common B-cell origin for diffuse large B-cell lymphoma (DLBCL).
- They concluded that the evolution from LyP to c-ALCL and LNI represents a progressive clonal evolution from a shared precursor, suggesting that nodal ALCL should be viewed as a transformation rather than a separate entity
Acute myeloid leukemias secondary (sAML) to myeloproliferative neoplasms (MPN) have variable clinical courses and outcomes, but remain almost always fatal. Large cohorts of sAML to MPN are difficult to obtain and there is very little scientific literature or prospective trials for determining robust prognostic markers and efficient treatments. We analyzed event-free survival (EFS) and overall survival (OS) of 73 patients with MPN who progressed to sAML, based on their epidemiological characteristics, the preexisting MPN, the different treatments received, the different prognostic groups and the responses achieved according to the ELN, and their mutational status determined by next-generation DNA sequencing (NGS).
View Article and Find Full Text PDFArticle Synopsis
- Acquired α-thalassemia myelodysplastic syndrome (ATMDS) is linked to mutations in the ATRX gene and occurs in patients with myelodysplastic syndromes (MDS), with a reported incidence below 0.5% in general MDS cases.
- This study specifically examined MDS patients experiencing unexplained microcytosis—small red blood cells not caused by iron deficiency or inherited conditions—and found a higher frequency of ATRX mutations (43% among those cases).
- The research also identified four new mutations in the ATRX gene and emphasizes the role of microcytosis as a useful indicator for detecting these mutations in MDS patients.
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.
Article Synopsis
- * A 33-year-old man experienced back pain and progressive neurological symptoms that led to paraplegia, initially misdiagnosed but later confirmed as metastatic lesions from his earlier SCC.
- * The combination of an epidermal growth factor receptor inhibitor and intrathecal chemotherapy showed effectiveness in stabilizing the disease, marking it as the first reported case of isolated neurological metastases from head and neck SCC.
Article 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.
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.
Article Synopsis
- Chronic myelomonocytic leukaemia (CMML) is a complex blood cancer with both myelodysplastic and myeloproliferative features, but its molecular biology isn't fully understood.
- A study examined 53 CMML samples, identifying mutations in specific genes, particularly ASXL1, which were more prevalent in the myeloproliferative form (MP-CMML).
- Mutations in ASXL1 were linked to a worse prognosis and a higher likelihood of progressing to acute leukaemia, as all patients who progressed had this mutation while none without it did.