Minor p190 Fusion Transcript in CML - A Case Report

Objective: Detection of minor (p190) BCR-ABL fusion protein in a CML patients. Case Report: A 26-year-old female presented with complaints of pain abdomen and episodes of vomiting. On examination her vitals were stable and there was moderate splenomegaly. The peripheral blood and bone marrow cytological features were consistent with myeloproliferative neoplasm. Fluorescent in situ hybridization (FISH) for BCR ABL was positive, with 87% of cells showing fusion transcript. However, Real Time Polymerase chain reaction (RT-PCR) for p210 BCR-ABL was found to be negative. In view of high morphologic index of suspicion for CML, further molecular analysis was carried out for BCR/ABL fusion transcript variants along with JAK2 V617F mutations. Conclusion: The patient was found to be positive for BCR/ABL p190 e1a2 fusion transcript, while BCR/ABL p210 fusion transcript was negative