AI Article Synopsis
- The World Health Organisation classifies myeloproliferative neoplasm (MPN) into two categories: BCR-ABL positive chronic myeloid leukaemia (CML Ph(+)) and Ph(-) MPN, with the JAK2 V617F mutation being common in the latter.
- The JAK2 mutation occurs in about 50% of cases of primary myelofibrosis, while earlier findings indicated that JAK2 and BCR-ABL mutations usually don't occur together.
- However, new evidence shows that patients can have both mutations, especially after receiving treatment with tyrosine kinase inhibitors (TKIs), as illustrated by a case of a 60-year-old male exhibiting both types of
Article Abstract
The World Health Organisation (WHO) classifies myeloproliferative neoplasm (MPN) into BCR-ABL positive chronic myeloid leukaemia (CML Ph(+)) and Ph(-) MPN. The JAK2 V617F mutation is specific for Ph(-) MPN and occurs in approximately 50% of primary myelofibrosis. Earlier reports suggest that the occurrence of JAK2 and BCR-ABL mutations are mutually exclusive. However, recent reports have documented the coexistence of BCR-ABL and JAK2 mutation in the same patient mostly following treatment with tyrosine kinase inhibitors (TKIs). We thus report a 60-year-old male with atypical clinical and laboratory features of MPN and the presence of both BCR-ABL and JAK2 Mutations.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314867 | PMC |
| http://dx.doi.org/10.4103/0300-1652.149177 | DOI Listing |
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Article Synopsis
- Chronic myeloid leukemia (CML) is characterized by the Philadelphia translocation (t(9;22)) that creates the BCR::ABL1 fusion gene, which is key to its diagnosis.
- Other myeloproliferative neoplasms (MPNs) also exhibit specific chromosomal abnormalities, but these are not unique to any one type and diagnosis relies on various cytological, histopathological, and molecular features.
- The progression of CML and other MPNs can be influenced by additional mutations, particularly in key genes like JAK2, MPL, and CALR, as well as the order in which these mutations occur, making ongoing monitoring essential.
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