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Summary
Many veterans and doctors have long questioned whether Agent Orange (AO) exposure during the Vietnam War contributed to cases of myelodysplastic syndrome (MDS), a type of blood cancer.
The contaminated chemical is linked to several cancers, but a link to MDS was unclear. This created real barriers for exposed veterans with MDS who are seeking care and disability benefits.
Now, a new…
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Highlights
Heme biosynthesis enzymes are variably suppressed in AML
Heme levels are linked with altered leukemic transcriptional programs via BACH1
Heme biosynthesis is a selective dependency in AML, both in vitro and in vivo
Heme starvation disrupts complex IV, inducing copper accumulation and cuproptosis
Summary…
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Abstract
Somatic mutations in hematopoietic stem/progenitor cells (HSPCs) can lead to clonal
hematopoiesis
hematopoiesis:
(hi-mat-uh-poy-EE-suss) The process of making blood cells in the bone marrow.
of indeterminate potential (CHIP) and progression to
myelodysplastic syndromes
myelodysplastic syndromes:
(my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the…
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Recordings:
Aplastic Anemia
Low Risk MDS
High Risk MDS to AML
Transplant and GVHD
MDS/MPN Overlap
A Patient Story: Shauna McMillian
Managing PNH Complications
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Session Recordings Available:
MDS to MPN Overlap from the 2025 Boston Patient and Family Conference
High Risk MDS from the 2025 Boston Patient and Family Conference
Low Risk MDS from the 2025 Boston Patient and Family Conference
What is Aplastic Anemia? From the 2025 Boston Patient and Family Conference
What is PNH? Webinar recorded at the 2025 Boston Patient and Family Conference…
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Here are links to the conference sessions from the 2025 Kansas City Patient and Family Conference:
MDS/MPN Overlap
PNH and Current Therapies
Living Well with Bone Marrow Failure
Judy's Story of PNH
Transplant and GVHD
Aplastic Anemia
PNH Complications
High Risk MDS
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Highlights
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Single-cell RNA-sequencing performed on 16 lower-risk myelodysplastic syndrome (LR-MDS)
bone marrow
bone marrow:
The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow.
-derived mononuclear cells (BMMCs)
•
A 30-gene signature distinguishes LR-MDS hematopoietic stem and progenitor cells (HSPCs) from Healthy…
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Abstract
Clonal
hematopoiesis
hematopoiesis:
(hi-mat-uh-poy-EE-suss) The process of making blood cells in the bone marrow.
of indeterminate potential (CHIP) is associated with increased mortality and malignancy risk, yet the determinants of clonal expansion remain poorly understood. We performed sequencing at a depth of coverage of >4000× for CHIP mutations in 6976 postmenopausal…
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Meet Evan. In a recent conversation with the
Aplastic Anemia
Aplastic Anemia:
(ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most…
and MDS…
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Please find all content at the link.
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Abstract
The TP53 gene ensures genetic fidelity by regulating cell cycle kinetics and
apoptosis
apoptosis:
Programmed cell death.
. In myeloid neoplasms, TP53
mutation
mutation:
Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a mutation in the PIG-A gene of a single stem…
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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
acute myeloid leukemia:
(uh-KYOOT my-uh-LOYD loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail…
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TP53 mutations are found in 10-15% of myeloid neoplasms and are one of its most important prognostic factors. Emerging data show that TP53 mutational allele status is a key determinant of clinical outcomes, with multi-hit TP53 mutant myeloid neoplasms having a very poor prognosis. Significant differences exist among the methods used in clinical and research settings to assess TP53 mutational…
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A phase 2 study found that eprenetapopt plus
azacitidine
azacitidine:
It works by reducing the amount of methylation in the body. Methylation is a process that acts like a switch to turn off or “silence” genes in certain cells. When these genes (called tumor suppressor genes) are turned off, MDS cells and cancer cells can grow freely. Azacitidine is approved by the U…
induced responses…
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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…
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Abstract
Background:
RNA splicing factor (SF) mutations are associated with adverse outcomes in patients with
acute myeloid leukemia
acute myeloid leukemia:
(uh-KYOOT my-uh-LOYD loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail to mature. The blast cells stay in the bone marrow and become to numerous. This slows…
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Evan biked daily. He had no symptoms. The diagnosis was fast, but surprising. Evan shares his remarkable story in this episode.
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Recorded Sessions:
Nutrition for Aplastic Anemia, MDS, or PNH
Managing PNH Treatments
Advances in Aplastic Anemia
What is PNH?
Transplant and GVHD: Aplastic Anemia and PNH
Inherited Bone Marrow Failure (focus on pediatrics)
Expert Panel: Pediatric Bone Marrow Failure
Life After Diagnosis - Pediatrics
Pediatric MDS
Transitioning to Adult Care
Pediatric PNH
Pediatric Aplastic…
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Shane Pope talks about living with PNH, or Paroxysmal Nocturnal Hemglobinuria, in this recorded conversation with Leigh Clark. Listen or read the transcript below.
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Shaquilla Gordon explains her journey with the
bone marrow failure
bone marrow failure:
A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be……
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