Multidisciplinary characterization of rare MPL Y591 and R592 variants in myeloid disorders: from clinical correlation and literature-based evidence to in silico predictors and structural bioinformatics.

doi:10.1016/j.exphem.2026.105472

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Article

Multidisciplinary characterization of rare MPL Y591 and R592 variants in myeloid disorders: from clinical correlation and literature-based evidence to in silico predictors and structural bioinformatics.

Experimental hematology - 1 Sept 2026

Laganà Alessandro, Iaquinta Giovanni, Santopietro Michelina, Luzi Giovanni, Ragazzo Michele, Angeloni Silvia, Cerroni Chiara, Tamburini Anna, Leonetti Crescenzi Sabrina, Tatarelli Caterina, Abruzzese Elisabetta, Trawinska Malgorzata Monika, Paciaroni Katia, Celesti Francesca, Caravita Di Toritto Tommaso, Grammatico Paola, Breccia Massimo

Abstract excerpt

Somatic mutations involving the canonical exon 10 hotspots of the thrombopoietin receptor gene (MPL) are established drivers in myeloproliferative neoplasms (MPNs), whereas the significance of rare, atypical variants remains unclear. We investigated the relevance of three uncommon MPL variants affecting residues Y591 and R592. Among a multicenter cohort of myeloid neoplasms undergoing next-generation sequencing...

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Topics

Receptors, Thrombopoietin
Humans
Myeloproliferative Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Computational Biology

Janus Kinase 2

Mutation

Models, Molecular

Computer Simulation

Protein Conformation

Amino Acid Substitution

Source

Open in PubMed

Identifiers

PMID: 42398799
DOI: 10.1016/j.exphem.2026.105472

Genes

MPL
JAK2

Variants

Provenance

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