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Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation
- Source :
- Haunstrup, L M, Ebbesen, L H, Hansen, M, Severinsen, M T & Aggerholm, A 2018, ' Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation ', Experimental Hematology, vol. 68, pp. 62-65 . https://doi.org/10.1016/j.exphem.2018.09.007, Haunstrup, L M, Ebbesen, L H, Hansen, M, Severinsen, M T & Aggerholm, A 2018, ' Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation ', Experimental Hematology, vol. 68, https://doi.org/10.1016/j.exphem.2018.09.007, pp. 62-65 . https://doi.org/10.1016/j.exphem.2018.09.007
- Publication Year :
- 2018
-
Abstract
- Detection of somatic mutations in cardinal driver genes is a strong argument for diagnosis in classical Philadelphia-negative myeloproliferative neoplasms (MPNs). Driver mutations in Janus kinase 2 (JAK2), calreticulin (CALR), and thrombopoietin receptor (MPL), are generally considered mutually exclusive, but several reports have suggested that they coexist in a small subgroup of patients. In this study, we retrospectively searched for CALR mutations in 136 suspected MPN patients with low allelic burden (≤5%) JAK2 V617F. Fifteen patients with concomitant JAK2 V617F and CALR mutations were identified, of whom 10 were diagnosed with essential thrombocytosis (ET). More than 50 different indel mutations in exon 9 of CALR have been reported, with type 1 (52 bp deletion) and type 2 (5 bp insertion) accounting for more than 80% of CALR-mutated MPN cases. Type 1 is generally considered the most common mutation, but, interestingly, our double-mutated ET patients seem to have an inversed ratio between type 1 and type 2 CALR mutations. Our findings support the possibility of coexisting JAK2 V617F and CALR mutations and stress the importance of further molecular screening in MPN patients with low allele frequencies of JAK2 V617F.
- Subjects :
- Cancer Research
Mutation, Missense
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
INDEL Mutation
hemic and lymphatic diseases
Genetics
Humans
Point Mutation
Medicine
Allele
Child
Indel
Molecular Biology
Allele frequency
Alleles
Aged
Retrospective Studies
Thrombopoietin receptor
Mutation
Myeloproliferative Disorders
Janus kinase 2
biology
Thrombocytosis
business.industry
food and beverages
Exons
Cell Biology
Hematology
Janus Kinase 2
Middle Aged
medicine.disease
Clone Cells
Amino Acid Substitution
030220 oncology & carcinogenesis
biology.protein
Cancer research
Female
Calreticulin
business
Polymorphism, Restriction Fragment Length
Thrombocythemia, Essential
030215 immunology
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Haunstrup, L M, Ebbesen, L H, Hansen, M, Severinsen, M T & Aggerholm, A 2018, ' Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation ', Experimental Hematology, vol. 68, pp. 62-65 . https://doi.org/10.1016/j.exphem.2018.09.007, Haunstrup, L M, Ebbesen, L H, Hansen, M, Severinsen, M T & Aggerholm, A 2018, ' Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation ', Experimental Hematology, vol. 68, https://doi.org/10.1016/j.exphem.2018.09.007, pp. 62-65 . https://doi.org/10.1016/j.exphem.2018.09.007
- Accession number :
- edsair.doi.dedup.....99a27ad920217a6e96e12e5493bf7ab6