Department of Hematopathology, AmPath, Hyderabad, Telangana, India.
Department of Hemato-Oncology and Bone Marrow Transplant, American Oncology Institute, Hyderabad, Telangana, India.
Indian J Pathol Microbiol. 2021 Oct-Dec;64(4):820-823. doi: 10.4103/IJPM.IJPM_977_20.
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.
慢性髓性白血病，BCR-ABL1 阳性（CML）与其他骨髓增殖性肿瘤（MPN）不同，因为它表现为费城染色体（Ph）阳性，存在 BCR-ABL1 易位，使其对酪氨酸激酶抑制剂（TKI）的靶向治疗有反应。另一组 Ph 阴性骨髓增殖性肿瘤明显不同，如真性红细胞增多症（PV）、原发性骨髓纤维化（PMF）、特发性血小板增多症（ET）等，这些肿瘤存在 Janus 激酶 2 基因（JAK2）的激活突变，即 JAK2 V617F 突变。BCR-ABL1 易位和 JAK2 V617F 突变通常被认为是疾病的定义特征，由于诊断和治疗的影响，它们是相互排斥的。我们在此报告一例罕见的 MPN 病例，同时存在 BCR-ABL1 易位和 JAK2 V617F 突变的表达，这给诊断、治疗和随访带来了挑战。
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