Evidence map›Paper›PMID 38835078›Full record

ArticleJournal of medical case reports2024

Detection of novel PPP1R1B::STARD3 fusion transcript in acute myeloid leukemia: a case report.

Elahe Dehghani Firouzabadi, Mohammed Allami, Eman Jassim Mohammed, Hossein Barzegar, Mahtab Dastpak, Reza Alemohammad, Vahid Moghimi, Reihaneh Alsadat Mahmoudian, Fatemeh Nasrabadi, Nahid Arghiani and 4 more

Abstract readCase Reports
In one paragraph

Article in Journal of medical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. 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

14 authors.

Elahe Dehghani FirouzabadiStem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran.
Mohammed AllamiDepartment of Dentistry, Al-Manara College for Medical Sciences, Maysan, Iraq.
Eman Jassim MohammedDepartment of Biology, College of Science, Mustansiriyah University, Baghdad, Iraq.
Hossein BarzegarStem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran.
Mahtab DastpakDepartment of Cell Biology, Harvard Medical School, 240 Longwood Ave, Boston, MA, 02115, USA.
Reza AlemohammadStem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran.
Vahid MoghimiStem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran.
Reihaneh Alsadat MahmoudianBasic Sciences Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
Fatemeh NasrabadiStem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran.
Nahid ArghianiDepartment of Molecular Biosciences, The Wenner-Gren Institute, Stockholm University, Stockholm, Sweden.
Yohei KitamuraDepartment of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.
Seyed Abolfazl HosseiniDepartment of Biology, Faculty of Science, Hakim Sabzevar University, Sabzevar, Iran.
Ali GhasemiDepartment of Pediatrics Hematology and Oncology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. ghasemial@mums.ac.ir.
Moein FarshchianStem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran. moein.farshchian@mail.um.ac.ir.

Funding

Mashhad University of Medical Sciences 971860
6 · The paper itself

Abstract

backgroundAcute myeloid leukemia (AML) is the second most common type of leukemia in children. Although prognostic and diagnostic tests of AML patients have improved, there is still a great demand for new reliable clinical biomarkers for AML. Read-through fusion transcripts (RTFTs) are complex transcripts of adjacent genes whose molecular mechanisms are poorly understood. This is the first report of the presence of the PPP1R1B::STARD3 fusion transcript in an AML patient. Here, we investigated the presence of PPP1R1B::STARD3 RTFT in a case of AML using paired-end RNA sequencing (RNA-seq). CASE PRESENTATION: A Persian 12-year-old male was admitted to Dr. Sheikh Hospital of Mashhad, Iran, in September 2019 with the following symptoms, including fever, convulsions, hemorrhage, and bone pain. The patient was diagnosed with AML (non-M3-FAB subtype) based on cell morphologies and immunophenotypical features. Chromosomal analysis using the G-banding technique revealed t (9;22) (q34;q13).

conclusionsSingle-cell RNA sequencing (scRNA-seq) analysis suggested that the PPP1R1B promoter may be responsible for the PPP1R1B::STARD3 expression. Alterations in the level of lipid metabolites implicate cancer development, and this fusion can play a crucial role in the cholesterol movement in cancer cells. PPP1R1B::STARD3 may be considered a candidate for targeted therapies of the cholesterol metabolic and the PI3K/AKT signaling pathways involved in cancer development and progression.

Indexed as

Leukemia, Myeloid, AcuteChildHumansMaleOncogene Proteins, FusionProtein Phosphatase 1Oncogene Proteins, FusionProtein Phosphatase 1Acute myeloid leukemiaFusion transcriptsRNA-seq

Identifiers

PMID38835078
PMCPMC11151611

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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.