False-negative CALR mutation in a suspected myeloproliferative neoplasm: identification, resolution and corrective action

J Clin Pathol. 2018 May;71(5):473-474. doi: 10.1136/jclinpath-2018-205029. Epub 2018 Feb 20.

Authors

Karl Haslam¹, Sarah Dell², Emer Atkinson¹, Helen Enright³, Patrick Thornton⁴, Stephen E Langabeer¹

Affiliations

¹ Cancer Molecular Diagnostics, St. James Hospital, Dublin, Ireland.
² Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
³ Department of Haematology, Tallaght Hospital, Dublin, Ireland.
⁴ Department of Haematology, Beaumont Hospital, Dublin, Ireland.

PMID: 29463578
DOI: 10.1136/jclinpath-2018-205029

No abstract available

Keywords: diagnostics; haemato-oncology; myeloproliferative disease.

Publication types

Case Reports
Letter

MeSH terms

Calreticulin / genetics*
False Negative Reactions
Humans
Mutation
Polymorphism, Restriction Fragment Length
Thrombocythemia, Essential / genetics*

Substances

CALR protein, human
Calreticulin