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Article

Calreticulin Type 26 Mutation in Myelofibrosis: A Rare Variant With Diagnostic Challenges.

Journal of clinical laboratory analysis - 1 Jun 2026

Maltese Teresa, Raffa Giuseppina, Stagno Fabio, Leanza Rossana, Barone Paola, Allegra Alessandro, Pollicino Teresa

Abstract excerpt

BACKGROUND: Myeloproliferative neoplasms (MPNs) are clonal hematologic disorders commonly driven by mutations in JAK2, MPL, or CALR. Because routine CALR assays are largely optimized for the canonical Type 1 and Type 2 exon 9 variants, rare noncanonical mutations may be missed, creating diagnostic challenges. METHODS: We report the case of a 78-year-old woman diagnosed with an MPN in 2016 and treated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42130187
DOI: 10.1002/jcla.70201
PMCID: PMC13267148

Genes

CALR
JAK2
CBL
MPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Calreticulin Type 26 Mutation in Myelofibrosis: A Rare Variant With Diagnostic Challenges.PMID 42130187Read ↗

The characteristics of CALR mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review.Semantic proximity Read ↗

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Calreticulin Mutations in Myeloproliferative NeoplasmsSemantic proximity Read ↗

Mutations in MPNs: prognostic implications, window to biology, and impact on treatment decisionsSemantic proximity Read ↗

An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms.Semantic proximity Read ↗

Calreticulin mutations in essential thrombocythemia and primary myelofibrosis.Semantic proximity Read ↗

Validation of a molecular diagnostic assay for CALR exon 9 indels in myeloproliferative neoplasms: identification of coexisting JAK2 and CALR mutations and a novel 9 bp deletion in CALRSemantic proximity Read ↗

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