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.
Factors affecting treatment decisions for lower-risk myelodysplastic syndromes across practice settings
Originally Published: 08/25/2025
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Pivotal results of SELECT-MDS-1 phase 3 study of tamibarotene with azacitidine in newly diagnosed higher-risk MDS
Originally Published: 08/13/2025
Abstract
Higher-risk myelodysplastic syndrome (HR-MDS) with RARA gene overexpression is a subset of patients (pts) with an actionable target for tamibarotene, an oral and a selective retinoic acid receptor-α (RAR-α) agonist. Tamibarotene with azacitidine (AZA) showed complete remission (CR) rates in myeloid leukemia. SELECT-MDS-1 was a phase 3 study comparing the activity of tamibarotene + AZA to placebo + AZA in these pts with newly diagnosed HR-MDS with RARA overexpression. Eligible pts had confirmed RARA overexpression, untreated MDS with higher-risk features by revised International...
Impaired cytotoxic function and exhausted phenotype of natural killer cells in VEXAS syndrome
Originally Published: 07/30/2025
Key Points
NK cells phenotyping reveals impaired cytotoxicity, chronic activation and exhaustion in VEXAS syndrome.
Decreased circulating NK cells were independently associated with an increased risk of severe infections in VEXAS syndrome.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder caused by acquired somatic UBA1 mutations in hematopoietic stem cells, affecting peripheral myeloid and natural killer (NK) cells. Given the high rate of severe infections observed in VEXAS patients, we hypothesized that NK cell dysfunction contributes...
IHC Testing Could Serve as Surrogate to NGS for Early Detection of TP53-Mutant MDS/AML
Originally Published: 07/29/2025
Immunohistochemistry (IHC) could represent a biomarker for the early detection of TP53 mutations and for the prediction of a TP53 allelic state in patients with myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML), according to data from an observational trial (NCT01174615) published in Cancer.
Findings demonstrated that among evaluable samples (n = 145), the mean percentage of cells with positive staining was 28% (±3.67%) for AML samples compared with 8.8% (±1.61%) for MDS samples (P < .001). Within the MDS subset, the mean percentage of cells with positive p53 staining was...
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...