Publications by authors named "Lucia Mont-de Torres"
VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized by cytoplasmic vacuoles in myeloid and erythroid precursor cells. Although there is currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom management, with only partial effectiveness. Hypomethylating agents (HMA) have shown promise in VEXAS patients with concomitant myelodysplastic syndrome (MDS), while the efficacy of HMA in VEXAS patients without MDS is largely unknown.
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- Mutations commonly associated with acute myeloid leukemia (AML) were studied in 127 patients with chronic myelomonocytic leukemia (CMML), revealing varying prevalence rates like CEBPA (7), FLT3 (8), IDH1 (12), IDH2 (26), and NPM1 (11).
- CMML patients with CEBPA, FLT3, and/or NPM1 mutations showed more severe symptoms and higher risk characteristics, indicating they were more frequently linked to the myeloproliferative subtype (MP-CMML).
- The study suggests that these mutations should be included in CMML prognostic models and advocates for treating these patients with AML-type therapies due to their poor
The 2022 WHO revision and the ICC classification have recently modified the diagnostic criteria for chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia. However, there is no consensus on whether CMML with NPM1 mutation (NPM1mut) should be diagnosed as AML. Nowadays, it is a subject of discussion because of its diagnostic and therapeutic implications.
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