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CALR-Mutation (Exon 9)

Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.

IDBIO-CALR
ArtBiomarker
Aliase
CALR-MutationCalreticulin-MutationМутація CALR (екзон 9)
Statusreviewed 2026-04-27 | pending_clinical_signoff
ErkrankungenDIS-ET DIS-PMF
QuellenSRC-ESMO-MPN-2015 SRC-NCCN-MPN-2025

Biomarker-Fakten

Biomarker-Typgene_mutation
Angaben zur Mutation{"exon": "9", "functional_impact": "Mutant CALR binds and constitutively activates MPL (thrombopoietin receptor) → JAK-STAT signaling", "gene": "CALR", "gene_hugo_id": "HGNC:1455", "hotspots": ["Type 1 — c.1092_1143del52 (52-bp deletion; ~55% of CALR-mut MPN)", "Type 2 — c.1154_1155insTTGTC (5-bp insertion; ~35%)", "Other type-1-like / type-2-like (~10%)"], "variant_type": "frameshift indel (exon 9)"}
Messung
VerfahrenPCR + Fragmentlängenanalyse (vorzugsweise — unterscheidet Typ 1 gegen Typ 2) ODER Sanger / NGS für genaue Variante
Einheitenkategorisch; Typ der gemeldeten Variante
SensitivitätsanforderungStandard PCR / Fragmentlänge
Verwandte BiomarkerBIO-JAK2

Anmerkungen

Diagnostic criterion for ET (~25%) and PMF (~25–30%); essentially absent in PV. Mutually exclusive with JAK2 V617F and MPL W515 (the three drive ~95% of MPNs). Type 1 (52-bp del) carries more myelofibrotic phenotype and better OS in PMF; type 2 (5-bp ins) more thrombocytosis-predominant ET phenotype with lower thrombosis risk. JAK inhibitors (ruxolitinib, momelotinib, fedratinib, pacritinib) are not mutation-specific — they target downstream JAK-STAT, so they work in CALR-, JAK2-, and MPL-driven disease. Mutant CALR is also a tumor-specific neoantigen — anti-mutCALR immunotherapy in early-phase trials.

Verwendet von

Therapeutische Relevanz

Biomarker