TY  - JOUR
A1  - Stein, Harald
A1  - Bob, Roshanak
A1  - Dürkop, Horst
A1  - Erck, Christian
A1  - Kämpfe, Dietrich
A1  - Kvasnicka, Hans Michael
A1  - Martens, Henrik
A1  - Roth, Andreas
A1  - Streubel, Anna
T1  - A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies
T2  - Leukemia
N2  - 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.
KW  - Genetics research
KW  - Immunological techniques
KW  - Mutations
KW  - Myeloproliferative disease
KW  - Translational research
Y1  - 2015
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/50669
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-506698
SN  - 1476-5551
SN  - 0887-6924
N1  - 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/
VL  - 30
SP  - 131
EP  - 135
PB  - Nature Publ. Group
CY  - Basingstoke
ER  -