Evidence map›Paper›PMID 40085347›Full record

ArticleInternational journal of hematology2025

Myelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1).

Shinsaku Imashuku, Yasuhiro Kazuma, Kazuhisa Chonabayashi, Yutaka Shimazu, Junya Kanda, Yasuhito Nannya, Seishi Ogawa, Naoyuki Anzai

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In one paragraph

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

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0cells of the map it votes in
0citing papers in PubMed
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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

8 authors.

Shinsaku ImashukuDepartment of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto, 611-0041, Japan. shinim95@mbox.kyoto-inet.or.jp.ORCID http://orcid.org/0000-0001-9795-0819
Yasuhiro KazumaDivision of Hematology, Uji-Tokushukai Medical Center, Uji, Kyoto, 611-0041, Japan.
Kazuhisa ChonabayashiDepartment of Hematology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8507, Japan.
Yutaka ShimazuDepartment of Early Clinical Development, Graduate School of Medicine, Kyoto University, Kyoto, 606-8507, Japan.
Junya KandaDepartment of Hematology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8507, Japan.
Yasuhito NannyaDivision of Hematopoietic Disease Control, Institute of Medical Science, The University of Tokyo, Tokyo, 108-0071, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8507, Japan.
Naoyuki AnzaiDivision of Hematology, Uji-Tokushukai Medical Center, Uji, Kyoto, 611-0041, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report here a case of myelodysplastic syndrome (MDS) that developed in a 60-year-old female with dehydrated hereditary stomatocytosis 1 (DHS1) with PIEZO1 gene mutation (p. E2496ELE). The patient had a non-transfused status until the age of 60, when her anemia progressed. Bone marrow examination revealed multilineage MDS (no increase in blasts) with a non-complex karyotype showing two types of ring chromosomes (RCs) confirmed by the G-banding method. A targeted next-generation sequencing (NGS) assay revealed Tet methylcytosine dioxygenase 2 (TET2) gene mutations (p. Y592fs and p. R1261C), and 9p amplification was noted. Spectral karyotyping determined that RCs were derived from chromosome 9, suggesting that the JAK2 gene might have played a role in MDS development. As a treatment, we plan to give a hypomethylating agent.

Indexed as

Anemia, Hemolytic, CongenitalHearing Loss, SensorineuralHydrops FetalisIon ChannelsMyelodysplastic SyndromesRing ChromosomesDioxygenasesDNA-Binding ProteinsFemaleHigh-Throughput Nucleotide SequencingHumansJanus Kinase 2Middle AgedMutationProto-Oncogene ProteinsDioxygenasesDNA-Binding ProteinsIon ChannelsJAK2 protein, humanJanus Kinase 2PIEZO1 protein, humanProto-Oncogene ProteinsTET2 protein, humanDehydrated hereditary stomatocytosis 1Myelodysplastic syndromePIEZO1 mutationRing chromosomeTET2 mutation

Identifiers

PMID40085347

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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.