Evidence map›Paper›PMID 39614632›Full record

ArticleCancer reports (Hoboken, N.J.)2024

Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.

SooHo Yu, Min-Seung Park, Gyu Yeong Kim, Junhun Cho, Chul Won Jung, Hee-Jin Kim, Hyun-Young Kim

Abstract readCase Reports
In one paragraph

Article in Cancer reports (Hoboken, N.J.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. GATA2 deficiency exacerbates chronic liver injuryWorld journal of stem cells · 2026
    Article
  2. Article
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.

SooHo YuDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0009-0007-5827-9680
Min-Seung ParkDepartment of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0000-0002-4482-3098
Gyu Yeong KimDepartment of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0000-0003-4062-3184
Junhun ChoDepartment of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0000-0002-6089-9340
Chul Won JungDivision of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0000-0002-5474-6807
Hee-Jin KimDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0000-0003-3741-4613
Hyun-Young KimDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID 0000-0003-0553-7096

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGermline GATA2-deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers. CASE: We report a 36-year-old woman with germline GATA2-deficiency who developed Merkel cell carcinoma followed by acute myeloid leukemia. Molecular analysis revealed a germline GATA2 S447R variant, not reported from the previous reported case, suggesting a potential association with Merkel cell carcinoma.

conclusionThis case broadens the spectrum of solid cancers linked to GATA2-deficiency, emphasizing the need for considering primary immunodeficiency in young patients with myeloid neoplasms or rare skin cancers, facilitating early detection and treatments.

Indexed as

Carcinoma, Merkel CellGATA2 DeficiencyGATA2 Transcription FactorGerm-Line MutationLeukemia, Myeloid, AcuteSkin NeoplasmsAdultFemaleHumansGATA2 protein, humanGATA2 Transcription Factoracute myeloid leukemiaGATA2‐defieciencyMerkel cell carcinoma

Identifiers

PMID39614632
PMCPMC11607133

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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.