Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Hazem A Juratli, Hanna Wassmer, Darius Juskevicius, Ilaria Alborelli, Karin Hartmann, Alexandar Tzankov

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Article in Virchows Archiv : an international journal of pathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Hazem A JuratliPathology, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland.

Hanna WassmerDepartment of Dermatology, Division of Allergy, University Hospital Basel and University of Basel, Schoenbeisntrasse 40, 4031, Basel, Switzerland.

Darius JuskeviciusDiagnostic Hematology Unit, Division of Hematology, University Hospital Basel and University of Basel, Basel, Switzerland.

Ilaria AlborelliPathology, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland.

Karin HartmannDepartment of Dermatology, Division of Allergy, University Hospital Basel and University of Basel, Schoenbeisntrasse 40, 4031, Basel, Switzerland.

Alexandar TzankovPathology, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland. alexandar.tzankov@usb.ch.ORCID http://orcid.org/0000-0002-1100-3819

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mast cell (MC) disorders result from inappropriate release of mediators and/or excessive accumulation of MCs, leading to symptoms of various organs and systems. Clonal MC disorders are defined by the presence of phenotypically aberrant and/or KIT-mutated MCs, and if aggregates of MCs are detectable, are designated as mastocytosis. Systemic mastocytosis (SM) affects mainly the bone marrow, with or without skin involvement. It is associated with the activating mutation D816V in the KIT gene. Other activating KIT gene variants are also observable in SM; activating KIT mutations are recognized as a minor diagnostic SM-criterion. We report a novel KIT variant in a patient with indolent SM, an in-frame deletion-insertion affecting amino acids D816 to N819 (D816_N819delinsll), creating an aliphatic pouch similar to that resulting from the D816V mutation, and leading to MC activation as suggested by the symptoms of the patient and the positivity for phosphorylated STAT5 in the clonal MCs.

Indexed as

Mastocytosis, SystemicMutationProto-Oncogene Proteins c-kitAdultDNA Mutational AnalysisHumansMaleKIT protein, humanProto-Oncogene Proteins c-kitGenetic testingKIT D816_N819delinsllKIT mutationKIT variantMastocytosisSystemic mastocytosis

Identifiers

PMID40892237

DOI10.1007/s00428-025-04237-9

PMCPMC13477440

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