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Article

CALR mutational status identifies different disease subtypes of essential thrombocythemia showing distinct expression profiles.

Blood cancer journal - 8 Dec 2017

Zini Roberta, Guglielmelli Paola, Pietra Daniela, Rumi Elisa, Rossi Chiara, Rontauroli Sebastiano, Genovese Elena, Fanelli Tiziana, Calabresi Laura, Bianchi Elisa, Salati Simona, Cazzola Mario, Tagliafico Enrico, Vannucchi Alessandro M, Manfredini Rossella

Abstract excerpt

Polycythemia vera (PV) and essential thrombocythemia (ET) are Philadelphia-negative myeloproliferative neoplasms (MPNs) characterized by erythrocytosis and thrombocytosis, respectively. Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. These ET CALR-mutated subjects show higher platelet...

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Identifiers

PMID: 29217833
DOI: 10.1038/s41408-017-0010-2
PMCID: PMC5802509

Genes

CALR
JAK2
MYC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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