Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia

PLAG1 is a rare translocation partner of RUNX1 in AML, mistaken for classical t(8;21) on conventional karyotyping. The rare reported cases of PLAG1::RUNX1 suggest a distinctly poor prognosis, highlighting the importance of accurate diagnosis and the role of OGM in our practice.

Authors

Agnès Daudignon (ORCID: https://orcid.org/0000-0002-4574-3663)
Nada Assaf (ORCID: https://orcid.org/0000-0002-3352-2660)
Christine Terré
Isabelle Luquet (ORCID: https://orcid.org/0000-0001-7891-5727)
Juliette Lambert (ORCID: https://orcid.org/0000-0001-5142-0310)
Shireen Alawieh
Rawan Hammoud

Institutions

Institut universitaire du cancer de Toulouse Oncopole (FR)
Hôpital Jeanne de Flandre (FR)
American University of Beirut Medical Center (LB)
Centre Hospitalier de Versailles (FR)
American University of Beirut (LB)

Publication Details

Journal: Molecular Cytogenetics
Published: 2025-10-24
DOI: https://doi.org/10.1186/s13039-025-00733-4
Primary Topic: Acute Myeloid Leukemia Research
Type: article
Field-Weighted Citation Impact: 0.00

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article

Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia

Agnès Daudignon, Nada Assaf, Christine Terré, Isabelle Luquet et al.

Oct 24, 2025

Molecular Cytogenetics

Acute Myeloid Leukemia Research

article

Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia

Agnès Daudignon, Nada Assaf, Christine Terré, Isabelle Luquet, Juliette Lambert, Shireen Alawieh, Rawan Hammoud

October 24, 2025article en

Abstract

PLAG1 is a rare translocation partner of RUNX1 in AML, mistaken for classical t(8;21) on conventional karyotyping. The rare reported cases of PLAG1::RUNX1 suggest a distinctly poor prognosis, highlighting the importance of accurate diagnosis and the role of OGM in our practice.

Molecular CytogeneticsVol. 18(1)

Institut universitaire du cancer de Toulouse Oncopole (FR), Hôpital Jeanne de Flandre (FR), American University of Beirut Medical Center (LB), Centre Hospitalier de Versailles (FR), American University of Beirut (LB)

Openalex Percentile: Top 61%

Acute Myeloid Leukemia Research

DOI Open Access PDF OpenAlex

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Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia — Agnès Daudignon, Nada Assaf, et al. · Molecular Cytogenetics (2025) | TGRS Research Map | TGRS