Evidence map›Paper›PMID 38203823›Full record

ReviewInternational journal of molecular sciences2024

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.

Hironori Arai, Hirotaka Matsui, SungGi Chi, Yoshikazu Utsu, Shinichi Masuda, Nobuyuki Aotsuka, Yosuke Minami

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.6field-weighted citation impact, top 7% of its field
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

9 citing papers in PubMed, 8 citations in OpenAlex.

  1. International journal of molecular sciences · 2026
    Article
  2. Article
  3. Article
  4. Pandora's Box of AML: HowBiomedicines · 2025
    Review
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
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

7 authors at 2 institutions in 1 country.

Hironori AraiDepartment of Hematology, National Cancer Center Hospital East, Kashiwa 277-8577, Japan.
Hirotaka MatsuiDepartment of Laboratory Medicine, National Cancer Center Hospital, Tsukiji, Chuoku 104-0045, Japan.ORCID 0000-0002-6266-3227
SungGi ChiDepartment of Hematology, National Cancer Center Hospital East, Kashiwa 277-8577, Japan.ORCID 0000-0002-5725-7187
Yoshikazu UtsuDepartment of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan.
Shinichi MasudaDepartment of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan.
Nobuyuki AotsukaDepartment of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan.
Yosuke MinamiDepartment of Hematology, National Cancer Center Hospital East, Kashiwa 277-8577, Japan.ORCID 0000-0003-0863-0739
Japanese Red Cross Narita Hospital · JPNational Cancer Center Hospital East · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Due to the proliferation of genetic testing, pathogenic germline variants predisposing to hereditary hematological malignancy syndrome (HHMS) have been identified in an increasing number of genes. Consequently, the field of HHMS is gaining recognition among clinicians and scientists worldwide. Patients with germline genetic abnormalities often have poor outcomes and are candidates for allogeneic hematopoietic stem cell transplantation (HSCT). However, HSCT using blood from a related donor should be carefully considered because of the risk that the patient may inherit a pathogenic variant. At present, we now face the challenge of incorporating these advances into clinical practice for patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) and optimizing the management and surveillance of patients and asymptomatic carriers, with the limitation that evidence-based guidelines are often inadequate. The 2016 revision of the WHO classification added a new section on myeloid malignant neoplasms, including MDS and AML with germline predisposition. The main syndromes can be classified into three groups. Those without pre-existing disease or organ dysfunction;

Indexed as

Hematologic NeoplasmsLeukemia, Myeloid, AcuteMyelodysplastic SyndromesGenes, RegulatorGerm CellsHumansIntracellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsSAMD9 protein, humanAMLDDX41germlineHHMSMDSSAMD9SAMD9LTP53variant

Identifiers

PMID38203823
PMCPMC10779750
OpenAlexW4390601453

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.