A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies
| Autor: | Roshanak Bob, Andreas Roth, Anna Streubel, Christian Erck, Horst Dürkop, Hans-Michael Kvasnicka, Harald Stein, Henrik Martens, Dietrich Kämpfe |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Cancer Research medicine.drug_class Biopsy Molecular Sequence Data Biology Monoclonal antibody medicine.disease_cause Frameshift mutation 03 medical and health sciences symbols.namesake Mice 0302 clinical medicine Bone Marrow Formaldehyde medicine Animals Humans ddc:610 Amino Acid Sequence Myelofibrosis Sanger sequencing Mutation Paraffin Embedding Antibodies Monoclonal Hematology medicine.disease Molecular biology Immunohistochemistry 030104 developmental biology medicine.anatomical_structure HEK293 Cells Oncology 030220 oncology & carcinogenesis symbols biology.protein Original Article Bone marrow Calreticulin |
| Zdroj: | Leukemia |
| ISSN: | 1476-5551 0887-6924 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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