A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies

  • Recent advances in the diagnostic of myeloproliferative neoplasms (MPNs) discovered CALRETICULIN (CALR) mutations as a major driver in these disorders. In contrast to JAK2 mutations being mainly associated with polycythaemia vera, CALR mutations are only associated with primary myelofibrosis (PMF) and essential thrombocythaemia (ET). CALR mutations are present in the majority of PMF and ET patients lacking JAK2 and MPL mutations. As these CALR mutations are absent from reactive bone marrow (BM) lesions their presence indicates ET or PMF. So far these mutations are detectable only by molecular assays. Their molecular detection is cumbersome because of the great CALR mutation heterogeneity. Therefore, the availability of a simple assay would be of great help. All CALR mutations reported lead to a frameshift generating a new 36 amino-acid C-terminus. We generated a monoclonal antibody (CAL2) to this C-neoterminus by immunizing mice with a representative peptide and compared its performance with Sanger sequencing data in 173 MPNs and other BM diseases. There was a 100% correlation between the molecular and the CAL2 immunohistochemical (IHC) assays. Thus, the detection of CALR mutations by the CAL2 IHC is a specific, sensitive, rapid, simple and low-cost method.

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Author:Harald Stein, Roshanak Bob, Horst Dürkop, Christian Erck, Dietrich Kämpfe, Hans-Michael KvasnickaORCiD, Henrik Martens, Andreas Roth, Anna Streubel
URN:urn:nbn:de:hebis:30:3-506698
DOI:https://doi.org/10.1038/leu.2015.192
ISSN:1476-5551
ISSN:0887-6924
Pubmed Id:https://pubmed.ncbi.nlm.nih.gov/26202929
Parent Title (English):Leukemia
Publisher:Nature Publ. Group
Place of publication:Basingstoke
Document Type:Article
Language:English
Year of Completion:2015
Date of first Publication:2015/08/14
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2019/07/08
Tag:Genetics research; Immunological techniques; Mutations; Myeloproliferative disease; Translational research
Volume:30
Page Number:5
First Page:131
Last Page:135
Note:
This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
HeBIS-PPN:452214688
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Sammlungen:Universitätspublikationen
Licence (German):License LogoCreative Commons - Namensnennung 4.0