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

Firouzabadi, Elahe Dehghani (author)
Allami, Mohammed (author)
Mohammed, Eman Jassim (author)
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Barzegar, Hossein (author)
Dastpak, Mahtab (author)
Alemohammad, Reza (author)
Moghimi, Vahid (author)
Mahmoudian, Reihaneh Alsadat (author)
Nasrabadi, Fatemeh (author)
Arghiani, Nahid, 1986- (author)
Stockholms universitet,Institutionen för molekylär biovetenskap, Wenner-Grens institut,University of Sussex, UK
Kitamura, Yohei (author)
Hosseini, Seyed Abolfazl (author)
Ghasemi, Ali (author)
Farshchian, Moein (author)
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 (creator_code:org_t)
2024
2024
English.
In: Journal of Medical Case Reports. - 1752-1947. ; 18
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Background Acute 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).Conclusions Single-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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Keyword

Fusion transcripts
Acute myeloid leukemia
RNA-seq

Publication and Content Type

ref (subject category)
art (subject category)

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