Dynamics of IDH1/2 mutated clones in acute myeloid leukemia challenge their use as universal MRD markers

The interpretation of persistent IDH1/2 mutations in acute myeloid leukemia (AML) remains a matter of debate, particularly in the context of measurable residual disease (MRD) assessment. While IDH1 and IDH2 mutations are well-established therapeutic targets and are readily trackable with high analytical sensitivity, their biological position within clonal hierarchies raises uncertainty about whether their persistence reflects residual leukemia or survival of pre-leukemic clones [ 1 , 2 , 3 ]. This distinction has direct clinical implications, as misclassification of IDH1/2 persistence may lead to inappropriate therapeutic escalation or misinterpretation of remission depth.

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Publication Details

Journal
Blood Cancer Journal
Published
2026-06-30
DOI
https://doi.org/10.1038/s41408-026-01538-3
Primary Topic
Acute Myeloid Leukemia Research
Type
article
Field-Weighted Citation Impact
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article

Dynamics of IDH1/2 mutated clones in acute myeloid leukemia challenge their use as universal MRD markers

Valentina Robustelli, Michela Rondoni, Emanuela Ottaviani, Francesco Lanza et al.
Blood Cancer Journal
Acute Myeloid Leukemia Research
article

Dynamics of IDH1/2 mutated clones in acute myeloid leukemia challenge their use as universal MRD markers

Valentina Robustelli, Michela Rondoni, Emanuela Ottaviani, Francesco Lanza, Giovanni Marconi, Lorenza Bandini, Giorgia Simonetti, Agnese Patuelli, Antonio Curti, Gianluca Cristiano, Claudia Venturi, Cristina Papayannidis, Chiara Sartor, Jacopo Nanni
article en

Abstract

The interpretation of persistent IDH1/2 mutations in acute myeloid leukemia (AML) remains a matter of debate, particularly in the context of measurable residual disease (MRD) assessment. While IDH1 and IDH2 mutations are well-established therapeutic targets and are readily trackable with high analytical sensitivity, their biological position within clonal hierarchies raises uncertainty about whether their persistence reflects residual leukemia or survival of pre-leukemic clones [ 1 , 2 , 3 ]. This distinction has direct clinical implications, as misclassification of IDH1/2 persistence may lead to inappropriate therapeutic escalation or misinterpretation of remission depth.

Blood Cancer JournalVol. 16(1)
Ospedale "Santa Maria delle Croci" di Ravenna (IT), Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IT), Istituto di Ematologia di Bologna (IT), Azienda USL di Bologna (IT)
Openalex Percentile: Top 8%
Acute Myeloid Leukemia Research
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Dynamics of IDH1/2 mutated clones in acute myeloid leukemia challenge their use as universal MRD markers — Valentina Robustelli, Michela Rondoni, et al. · Blood Cancer Journal (2026) | TGRS Research Map | TGRS