News and Treatment Updates
Here's where you'll find a regularly updated, broad range of articles written by the AAMDSIF team, allied health organizations and news organizations. By staying well-informed, patients and families are practicing a form of self-support that will help them be more effective self-advocates when engaging with health care providers.
Curing the Incurable: TP53 Mutated Myeloid Neoplasms
Originally Published: 07/27/2025
Abstract
The TP53 gene ensures genetic fidelity by regulating cell cycle kinetics and apoptosis. In myeloid neoplasms, TP53 mutation is witnessed in 13% of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Alterations in TP53 or its respective protein is associated with a near-universal dismal prognosis, especially if there is TP53 protein hyper-expression or multi-hit genetic disease as defined by: biallelic loss, 17p chromosomal deletion, complex karyotypic features, loss of heterozygosity, or variant allele frequency (VAF) of 50% or more. TP53 mutations or protein hyper-...
Clinical Study on Targeted Drug Expands Treatment Options for Myelodysplastic Syndrome
Originally Published: 07/24/2025
Their research led to the 2022 approval of olutasidenib for certain patients with IDH1-mutant AML, which occurs in about 10% of AML. After that success, Dr. Watts and his team began to focus closely on testing the drug in MDS, a related condition that often progresses to AML.
IDH-1 mutations also occur in MDS, at a frequency of 3 to 5%.
Strong Responses
In the current study, the researchers tested olutasidenib in 22 MDS patients with IDH1-mutant tumors. All patients were classified with intermediate to high-risk disease, with 86% being high or very high risk.
Patients received either...
Combo eprenetapopt plus azacitidine is well-tolerated in TP53-mutated MDS and AML
Originally Published: 07/22/2025
A phase 2 study found that eprenetapopt plus azacitidine induced responses in patients with TP53-mutated myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). This combination may be an opportune bridge to transplantation, according to David A. Sallman, MD, of the Moffitt Cancer Center in Tampa, Florida, and colleagues, who published the findings in HemaSphere.
Eprenetapopt is a novel, first-in-class small molecule that “reactivates p53 and targets cellular redox balance, ultimately inducing apoptosis and ferroptosis in TP53[-mutated] cancer cells,” the authors explain.
The...
Combo eprenetapopt plus azacitidine is well-tolerated in TP53-mutated MDS and AML
Originally Published: 07/22/2025
A phase 2 study found that eprenetapopt plus azacitidine induced responses in patients with TP53-mutated myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). This combination may be an opportune bridge to transplantation, according to David A. Sallman, MD, of the Moffitt Cancer Center in Tampa, Florida, and colleagues, who published the findings in HemaSphere.
Eprenetapopt is a novel, first-in-class small molecule that “reactivates p53 and targets cellular redox balance, ultimately inducing apoptosis and ferroptosis in TP53[-mutated] cancer cells,” the authors explain.
The...
Treatment patterns of extracorporeal photopheresis in steroid-refractory graft versus host disease: A delphi study
Originally Published: 07/22/2025
Steroid-refractory GvHD (SR-GvHD) following allogeneic transplant is a major clinical challenge and is associated with substantial mortality [1]. While the European Society for Bone and Marrow Transplantation (EBMT) recommends ruxolitinib for second-line treatment of GvHD [2], some patients may experience side effects or refractoriness, and therefore require alternative treatment options [2]. However, there are no standardized treatment recommendations for SR-GvHD beyond ruxolitinib in Europe [2]. Extracorporeal photopheresis (ECP), a cell-based, immunomodulatory therapy, is quoted as a...
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency
Originally Published: 07/15/2025
Abstract
GATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier...
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Originally Published: 07/15/2025
Abstract
With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is needed to inform interventional approaches. Germline genetic variation influences cancer risk and shapes tumor mutational profile, but its influence on the mutational landscape of normal tissues is not well known. Here we studied the impact of germline genetic variation on clonal hematopoiesis (CH) in 731,835 individuals. We identified 22 new CH-...
Hematopoietic stem cell transplantation is effective in achieving long-term survival for post-aplastic anemia myeloid neoplasms: the EBMT Severe Aplastic Anemia Report
Originally Published: 07/03/2025
Abstract
Aplastic anemia (AA) transformation into myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) is associated with a dismal prognosis. Hematopoietic stem cell transplant offers the sole possibility of cure, but data on long-term survival are scarce. We retrospectively analyzed 270 patients transplanted for MDS, AML, or an isolated cytogenetic abnormality after a diagnosis of AA or paroxysmal nocturnal hemoglobinuria reported to the EBMT. The median age at transplantation was 39 years. The 5-year overall survival (OS) rate was 64%, unaffected by chromosome 7 abnormalities,...
SRSF2-mutated MDS: bortezomib STAT?
Originally Published: 07/03/2025
In this issue of Blood, Takashima et al show that reduced STAT1 abundance in SRSF2-mutant myelodysplastic syndrome (MDS) cells confers protection against interferon (IFN)-driven cell suppression relative to normal wild-type (WT) cells.1 Importantly, the authors demonstrate that treatment with the proteasome inhibitor bortezomib in vitro increases STAT1 abundance and sensitizes SRSF2-mutant cells to IFN. These findings provide potential rationale for using bortezomib therapy in SRSF2-mutated MDS, which is characterized by poor outcomes.
It has been several years since the initial...
Study supports frontline use of imetelstat for low-risk MDS patients ineligible for ESAs
Originally Published: 06/30/2025
A post-hoc analysis of pooled data from the IMerge trial found that patients with low-risk myelodysplastic syndromes (MDS) who were ineligible for erythropoiesis-stimulating agents (ESAs) due to elevated baseline serum erythropoietin derived clinical benefit from frontline treatment with imetelstat.
Rami Komrokji, MD, of the H. Lee Moffitt Cancer Center in Tampa, Florida, presented the results at the 2025 EHA Congress.
Researchers used data from the phase 2, phase 3, and QTc substudy results from IMerge, which treated adults with imetelstat 7.1 mg/kg or placebo, both administered as a two-...