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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.

Allogeneic Hematopoietic Cell Transplantation for the Treatment of Severe Aplastic Anemia: Evidence-Based Guidelines From the American Society for Transplantation and Cellular Therapy

Originally Published: 12/04/2024
Article Source: External Web Content
Allogeneic hematopoietic cell transplantation (HCT) is a potentially curative treatment for severe aplastic anemia (SAA). Existing guidance about HCT in SAA is primarily derived from expert reviews, registry data and societal guidelines; however, transplant-specific guidelines for SAA are lacking. A panel of SAA experts, both pediatric and adult transplant physicians, developed consensus recommendations using Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) methodology employing a GRADE guideline development tool. The panel agrees with previous recommendations for...

Therapy for acute myeloid leukemia in older and unfit adults

Originally Published: 12/04/2024
Article Source: External Web Content
TITLE Azacitidine and venetoclax in previously untreated acute myeloid leukemia. AUTHORS DiNardo CD, Jonas BA, Pullarkat V, et al. JOURNAL The New England Journal of Medicine. 2020;383:617-629. doi: 10.1056/NEJMoa2012971. The therapy of acute myeloid leukemia (AML) has experienced a renaissance in the past 5 years with the approval of nine new targeted agents and over 12 regimens.1 Historically, therapy for AML was the domain of healthy, young, ‘fit’ individuals.2 In 1973 the “7+3” regimen achieved an unprecedented 63% remission rate.2 However, this intense regimen confines patients to the...

Can JAK inhibition prevent GVHD?

Originally Published: 11/28/2024
Article Source: External Web Content
In this issue of Blood, Pidala et al report on the results of a multicenter phase 2 trial, in which a graft-versus-host disease (GVHD) prevention regimen of pacritinib, an oral JAK2 inhibitor, in combination with sirolimus and tacrolimus successfully suppressed pSTAT3 signaling in CD4+ T cells but failed to decrease the incidence of acute GVHD compared with historical controls.1  Historically, acute GVHD has been a fundamental barrier to successful allogeneic hematopoietic cell transplantation (HCT). After years of inadequate efficacy, GVHD prophylaxis regimens have advanced and resulted in...

What have we learned about TP53-mutated acute myeloid leukemia?

Originally Published: 11/19/2024
Article Source: External Web Content
Abstract TP53 is a tumor suppressor gene frequently mutated in human cancers and is generally associated with poor outcomes. TP53 mutations are found in approximately 5% to 10% of patients with de novo acute myeloid leukemia (AML), more frequently observed in elderly patients and those with therapy-related AML. Despite recent advances in molecular profiling and the emergence of targeted therapies, TP53-mutated AML remains a challenge to treat. Current treatment strategies, including conventional chemotherapy, hypomethylating agents, and venetoclax-based therapies, have shown limited efficacy...

Risk prediction for clonal cytopenia: multicenter real-world evidence

Originally Published: 11/07/2024
Article Source: External Web Content
Key Points A 3-parameter CCRS model was devised specifically for patients diagnosed with clonal cytopenia. The CCRS offers precise CCUS risk assessment for patient management and clinical trial eligibility. Abstract Clonal cytopenia of undetermined significance (CCUS) represents a distinct disease entity characterized by myeloid-related somatic mutations with a variant allele fraction of ≥2% in individuals with unexplained cytopenia(s) but without a myeloid neoplasm (MN). Notably, CCUS carries a risk of progressing to MN, particularly in cases featuring high-risk mutations. Understanding...

Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation

Originally Published: 11/04/2024
Article Source: External Web Content
It is being increasingly recognized that many patients with blood cancers harbor germline variants that increase cancer risk.1 For example, 14% of patients with acute myeloid leukemia in the BEAT AML study had germline variants associated with a hereditary hematopoietic malignancy (HHM) despite an older age at diagnosis (median, 72 years).2 Moreover, 7% of patients with a myelodysplastic syndrome shared deleterious germline variants with their matched-related stem cell donors (MRD).3 Clinical complications, particularly graft failure and donor-derived malignancies, can occur when an MRD with...

Abatacept for acute graft-versus-host disease prophylaxis after unrelated donor hematopoietic cell transplantation

Originally Published: 10/24/2024
Article Source: External Web Content
Key Points This study illustrates the survival benefits of abatacept combined with CNI/MTX in patients with hematologic malignancies undergoing HCT. The addition of abatacept may provide an approach for alternative donor pool expansion when HLA-identical sibling donors are unavailable. Abstract Abatacept plus calcineurin inhibitors/methotrexate (CNI/MTX) is the first US Food and Drug Administration (FDA)-approved regimen for acute graft-versus-host disease (aGVHD) prophylaxis during unrelated-donor hematopoietic cell transplantation (URD-HCT). Using Center for International Blood and Marrow...

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Originally Published: 10/24/2024
Article Source: External Web Content
Abstract The genomics era has facilitated the discovery of new genes that predispose individuals to bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of ETS-related gene (ERG), a novel, autosomal dominant BMF/HM predisposition gene. ERG is a highly constrained transcription factor that is critical for definitive hematopoiesis, stem cell function, and platelet maintenance. ERG colocalizes with other transcription factors, including RUNX family transcription factor 1 (RUNX1) and GATA binding protein 2 (GATA2), on promoters or enhancers of genes that...

High-dose IV ascorbic acid therapy in CCUS patients with TET2 mutations

Originally Published: 10/01/2024
Article Source: External Web Content
This was a phase II trial, evaluating the safety/efficacy of high-dose IV-ascorbic acid in patients with TET2 mutant CCUS. Eight of 10 patients enrolled were eligible for response assessment. At week 20, there were no responses by IWG MDS criteria. NCT03418038 (pdf available at link)

Learn about PNH (Paroxysmal Nocturnal Hemoglobinuria)

Originally Published: 09/27/2024
Article Source: AAMDSIF Article
Recently, there has been increased mention of paroxysmal nocturnal hemoglobinuria (PNH) in the news and on social media.  As part of our mission, the Aplastic Anemia and MDS International Foundation (AAMDSIF) works with leading PNH specialists to provide patients, their support networks, and the public with trusted and up-to-date educational resources about PNH.   According to Dr. Carlos DeCastro, PNH expert and member of the AAMDSIF Medical Advisory Board, "PNH is a lifelong rare complex blood disorder that requires management by a PNH specialist.  It is important for patients and their...