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- Title
JAK2, 46/1 haplotype and chronic myelogenous leukemia: diagnostic and therapeutic potential.
- Authors
Campiotti, Leonardo; Elli, Lorenzo; Suter, Matteo B.; Guasti, Luigina; Pallotti, Francesco
- Abstract
This mutation is often associated with a constitutional haplotype, the JAK2 46/1 haplotype, of 20 single nucleotide polymorphisms (SNPs), some immediately upstream of I JAK2 i , and others within I JAK2 i introns [[1]], [[2]]. The presence of the I JAK2 i 46/1 haplotype was searched for in all 68 patients starting from the SNP rs10974944 (C/G), which has a distribution of the 46/1 allele G in the European population of 0.271 [[13]], therefore taken as representative of the 46/1 haplotype. Analyzing the molecular response to imatinib, all the patients with the 46/1 haplotype in homozygosity obtained a BCR-ABL level <0.1% tested by 4.5 log sensitive RT-PCR, after 6 months of therapy, and had a CMR at the end of the first year of treatment. A good response to imatinib is present in 46/1 haplotype patients, and in particular homozygous patients seem to obtain a fast and deep molecular response.
- Subjects
CHRONIC myeloid leukemia; GRANULOCYTES; CHROMOSOMAL translocation; REVERSE transcriptase polymerase chain reaction
- Publication
Clinical Chemistry & Laboratory Medicine, 2020, Vol 58, Issue 1, pe24
- ISSN
1434-6621
- Publication type
Article
- DOI
10.1515/cclm-2019-0158