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A case of double positive myeloproliferative neoplasm: A diagnostic and therapeutic challenge
Ayeesha B Shaikh1, Anil Aribandi2, Anurag Gupta3, Suresh K Subramanian4, Manu Goyal1
1 Department of Hematopathology, AmPath, Hyderabad, Telangana, India
2 Department of Hemato-Oncology and Bone Marrow Transplant, American Oncology Institute, Hyderabad, Telangana, India
3 Department of Cytogenetics, AmPath, Nallagandla, Serilingampally, Hyderabad, Telangana, India
4 Department of Molecular Diagnostics, AmPath, Nallagandla, Serilingampally, Hyderabad, Telangana, India
Correspondence Address:
Manu Goyal
HOD Hematopathology and Consultant Molecular Hematopathologist, AmPath, Nallagandla, Serilingampally, Hyderabad - 500 019, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/IJPM.IJPM_977_20
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Chronic Myeloid Leukemia, BCR-ABL1 positive (CML) is distinct from other myeloproliferative neoplasms (MPNs) as it is positive for the Philadelphia chromosome (Ph) with presence of BCR-ABL1 translocation that makes it responsive to targeted therapy with tyrosine kinase inhibitors (TKI). Distinctly there is another group of Ph-negative myeloproliferative neoplasms as polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET) and others that harbor an activating mutation in the Janus Kinase 2 gene (JAK2), i.e., JAK2 V617F mutation. BCR-ABL1 translocation and the JAK2 V617F mutation are generally considered disease defining and mutually exclusive due to diagnostic and therapeutic implications. We hereby present a rare case of MPN with coexistent expression of BCR-ABL1 translocation and JAK2 V617F mutation thus posing a challenge in diagnosis, treatment, and follow-up.
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