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Article

Resolving diagnostic uncertainty in rare MPL and CALR variants: A practical framework for the haematology clinic.

British journal of haematology - 1 Sept 2026

Singh Suvir, Dhillon Barjinderjit K, Pandita Renu Moti, Jain Kunal, Singh Jagdeep

Abstract excerpt

Interpretation of rare non-canonical MPL and CALR variants in myeloproliferative neoplasms (MPNs) remains challenging and frequently results in variants of uncertain significance (VUS). We explored whether these variants share structural or electrostatic features with established MPN driver mutations. We studied 179 patients with BCR::ABL1-negative MPNs using targeted next-generation sequencing (NGS), structural...

Read the complete abstract on PubMed

Topics

Humans
Receptors, Thrombopoietin
Calreticulin
Female
Myeloproliferative Disorders
Middle Aged

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

Male

Adult

Aged

High-Throughput Nucleotide Sequencing

Mutation

Hematologic Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 42312542
DOI: 10.1111/bjh.70630
PMCID: PMC13570161

Genes

MPL
CALR
ABL1
BCR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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Resolving diagnostic uncertainty in rare MPL and CALR variants: A practical framework for the haematology clinic.PMID 42312542Read ↗

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