Evidence map›Paper›PMID 42533241›Full record

ArticleInternational journal of hematology2026

Late acquisition of BCR::ABL1 during clonal evolution of SAMD9-associated MDS with phenotypic shift from AML to B-ALL.

Yusuke Nakata, Anna Hiratsuka, Takeshi Yoroidaka, Wakana Takahashi, Itaru Nishikawa, Masataka Sakashita, Shinya Yamada, Hiroki Mizumaki, Akiyo Yoshida, Tatsuya Imi and 6 more

Abstract readCase Reports
In one paragraph

Article in International journal of hematology, 2026. 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

16 authors.

Yusuke NakataDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Anna HiratsukaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Takeshi YoroidakaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Wakana TakahashiDivision of Hematology, Keiju Kanazawa Hospital, Kanazawa, Japan.
Itaru NishikawaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Masataka SakashitaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Shinya YamadaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Hiroki MizumakiDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Akiyo YoshidaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Tatsuya ImiDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Hiroyuki MaruyamaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Hiroyuki TakamatsuDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Kohei HosokawaDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan.
Yasuhito NannyaDivision of Hematopoietic Disease Control, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Seishi OgawaPathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Toshihiro MiyamotoDepartment of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-Machi, Kanazawa, Ishikawa, 920-8641, Japan. toshmiya@staff.kanazawa-u.ac.jp.ORCID http://orcid.org/0000-0002-6533-1594

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a unique case of SAMD9-associated myelodysplastic syndrome (MDS) with monosomy 7 that evolved over 16 years into BCR::ABL1-positive acute myeloid leukemia (AML) and subsequently manifested as B-cell acute lymphoblastic leukemia (B-ALL). Genomic analysis at AML diagnosis revealed a germline SAMD9 mutation together with somatic RUNX1 and PPM1D mutations, supporting stepwise clonal evolution, with BCR::ABL1 emerging as a late leukemogenic event. The dominant leukemic population at AML onset showed myeloid morphology and immunophenotype, whereas a minor CD19

Indexed as

Clonal EvolutionFusion Proteins, bcr-ablLeukemia, Myeloid, AcuteMyelodysplastic SyndromesPrecursor B-Cell Lymphoblastic Leukemia-LymphomaTumor Suppressor ProteinsChromosome DeletionChromosomes, Human, Pair 7HumansIntracellular Signaling Peptides and ProteinsMaleMutationPhenotypeFusion Proteins, bcr-ablIntracellular Signaling Peptides and ProteinsSAMD9 protein, humanTumor Suppressor ProteinsALLAMLBCR::ABL1MDSPhenotypic shift

Identifiers

PMID42533241
PMCPMC13529899

What OpenQuestion holds

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Registered trials

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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.