CML- A IMPOSTER WITH MANY FACES
DOI:
https://doi.org/10.22159/ijcpr.2025v17i1.6020Keywords:
Chronic myeloproliferative diseases, Polycythaemia vera, Chronic myeloid leukaemia, Janus kinase-2, BCR-ABL, Philadelphia chromosomeAbstract
Objective: The classification of chronic myeloproliferative diseases by the World Health Organisation includes eight forms of bone marrow neoplasms, including polycythaemia vera and Breakpoint cluster region-ABL viral oncogene homolog 1(BCR-ABL)-positive CML. Polycythaemia vera is diagnosed in the majority of cases (95%) only when the Janus kinase-2 mutation is present and the Breakpoint cluster region-Abelson murine (BCR-ABL) leukaemia viral oncogene homolog-1 rearrangement is negative.
Methods: Methods are not explicitly stated in the abstract; however, the study seems to have involved genetic testing and diagnostic evaluation to identify specific mutations and rearrangements associated with the conditions.
Results: With no Janus kinase-2 mutation, the presence of the Philadelphia chromosome, and the BCR-ABL leukaemia viral oncogene homolog one fusion gene, we report a case with erythrocytosis as the main feature of chronic myeloid leukaemia.
Conclusion: The case highlights a rare occurrence in the diagnosis of chronic myeloid leukaemia where typical genetic markers of polycythaemia vera are absent, indicating the complexity and variability in the genetic landscape of myeloproliferative diseases.
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Copyright (c) 2025 ASHISH GUPTA, PRAKASH SINGH SHEKHAWAT, RAHUL PARASHAR, AKANKSHA RAJ KHANDAL
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