Publications by authors named "Georgina Gener-Ricos"
Introduction: NPM1-mutated (NPM1) myeloid neoplasms (MNs) with <20% bone marrow (BM) blasts (NPM1 MNs<20) are uncommon, and their classification remains inconsistent.
Methods: The clinicopathologic features of 54 patients with NPM1 MNs <20 were evaluated and compared with wild-type NPM1 MNs <20 and NPM1 MNs≥20, respectively.
Results: NPM1 MNs had similar features regardless of blast percentage, except for higher IDH2 (29% vs 7%, p = .
Article Synopsis
- Higher-risk myelodysplastic syndromes (HR-MDS) are characterized by severe blood cell deficiencies, high bone marrow blast counts, poor genetic markers, and challenging mutational profiles, leading to a generally poor survival outlook.
- The main treatment options available are hypomethylating agents (HMAs) such as azacitidine and decitabine, which are used until they stop being effective or cause unacceptable side effects.
- This review explores the biology of HR-MDS, current treatment strategies including HMAs, and the role of hematopoietic stem cell transplantation as a potential cure.
Therapy-related myeloid neoplasms (t-MNs) arise after exposure to cytotoxic therapies and are associated with high-risk genetic features and poor outcomes. We analyzed a cohort of patients with therapy-related chronic myelomonocytic leukemia (tCMML; n = 71) and compared its features to that of de novo CMML (dnCMML; n = 461). Median time from cytotoxic therapy to tCMML diagnosis was 6.
View Article and Find Full Text PDFBackground: Dasatinib is a BCR::ABL1 tyrosine kinase inhibitor approved as frontline therapy at a 100 mg daily for chronic myeloid leukemia in chronic phase (CML-CP). The use of a lower dose of dasatinib (50 mg daily) has demonstrated better tolerance and improved outcomes compared with the standard dose. Here, we report the updated results in a large cohort with a 5-year follow-up.
View Article and Find Full Text PDFWhile germline predisposition to myelodysplastic syndromes is well-established, knowledge has advanced rapidly resulting in more cases of inherited hematologic malignancies being identified. Understanding the biological features and main clinical manifestations of hereditary hematologic malignancies is essential to recognizing and referring patients with myelodysplastic syndrome, who may underlie inherited predisposition, for appropriate genetic evaluation. Importance lies in individualized genetic counseling along with informed treatment decisions, especially with regard to hematopoietic stem cell transplant-related donor selection.
View Article and Find Full Text PDFHereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases.
View Article and Find Full Text PDFBackground: Several risk stratification models have been proposed in recent years for systemic mastocytosis but have not been directly compared. Here we designed and validated a risk stratification model for progression-free survival (PFS) and overall survival (OS) in systemic mastocytosis on the basis of all currently available prognostic factors, and compared its predictive capacity for patient outcome with that of other risk scores.
Methods: We did a retrospective prognostic modelling study based on patients diagnosed with systemic mastocytosis between March 1, 1983, and Oct 11, 2019.