Evidence map›Paper›PMID 40535318›Full record

ArticleClinical hematology international2025

Genetic and Clinical Progression of MYSM1 Related Bone Marrow Failure into Myeloid Malignancies: Case Series and Review of Literature.

Alfadil Haroon, Syed Osman Ahmed, Chokri Ben Lamine, Mahmoud Aljurf, Hazzaa Alzahrani

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical hematology international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Alfadil HaroonAdult Hematology, stem cell transplant and cellular therapy section, Cancer Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Syed Osman AhmedAdult Hematology, stem cell transplant and cellular therapy section, Cancer Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Chokri Ben LamineAdult Hematology, stem cell transplant and cellular therapy section, Cancer Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mahmoud AljurfAdult Hematology, stem cell transplant and cellular therapy section, Cancer Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hazzaa AlzahraniAdult Hematology, stem cell transplant and cellular therapy section, Cancer Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MYSM1, located on chromosome 1p32.1, encodes histone H2A deubiquitinase, a transcription regulator involved in DNA damage response. Biallelic MYSM1 variants are linked to rare bone marrow failure syndromes, presenting with cytopenia, B-cell deficiency, hypogammaglobulinemia, and developmental abnormalities. We report four cases of MYSM1 mutations progressing from marrow failure to MDS or AML within 9-10 years. Genetic abnormalities, including TP53 mutation and chromosomal anomalies, suggest clonal evolution. Hematopoietic stem cell transplantation achieved remission in two patients with adverse cytogenetics. Further research is needed to refine management strategies and assess long-term outcomes in MYSM1-associated marrow failure and MDS.

Indexed as

Acute myeloid leukemiabone marrow failureHematopoietic stem cell transplantationMyelodysplastic syndromeMYSM1 mutation

Identifiers

PMID40535318
PMCPMC12176283

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.