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A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia

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FUS::ERG rearrangement is a recurrent abnormality seen in a subgroup of acute myeloid leukemia (AML) with a poor prognosis. We described here a novel HNRNPH1::ERG rearrangement in a de novo… Click to show full abstract

FUS::ERG rearrangement is a recurrent abnormality seen in a subgroup of acute myeloid leukemia (AML) with a poor prognosis. We described here a novel HNRNPH1::ERG rearrangement in a de novo AML. The patient was unresponsive to routine chemotherapy and succumbed to the disease just 3 months after diagnosis. Two additional cases of AML with HNRNPH1::ERG rearrangement were discovered by searching a publicly available sequencing database. The three patients share several clinical phenotypes with the FUS::ERG rearranged AML, including high blast count at diagnosis, pediatric or young adult‐onset, and poor overall survival. In addition, hnRNPH1 and FUS are both hnRNP family members, a group of RNA‐binding proteins functioning in RNA metabolism and transport. Therefore, we suggest that patients with HNRNPH1::ERG or FUS::ERG rearrangement belong to the same distinct clinicopathologic subtype of AML, that is, AML with ERG rearrangement. Based on a previous study showing that FUS::ERG binds to the retinoic acid‐responsive elements and that all‐trans retinoic acid‐induced cell differentiation of AML cells, we support the clinical evaluation of an APL‐like therapeutic regimen for AML with ERG rearrangement.

Keywords: erg rearrangement; aml; fus erg; hnrnph1 erg; acute myeloid; rearrangement

Journal Title: Genes
Year Published: 2022

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