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Identification of rare atypical BCR-ABL1 transcript: A case report
Jayesh Saha1, Vipin Gopinath1, Chandran K Nair2, Deepak Roshan1
1 Department of Clinical Laboratory Services and Translational Research, Malabar Cancer Centre, Thalassery, Kerala, India
2 Department of Haematology and Medical Oncology, Malabar Cancer Centre, Thalassery, Kerala, India
Correspondence Address:
Deepak Roshan,
Assistant Professor, Division of Genetics and Cytogenetics, Malabar Cancer Centre, Moozhikkara, Thalassery - 670 103, Kerala
India
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/ijpm.ijpm_715_21
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CML is characterized by the presence of a BCR-ABL1 fusion transcript. Several guidelines have been published for its detection and molecular monitoring. Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. This case highlights the pitfalls of using real-time quantitative reverse-transcription polymerase chain reaction (RQ-PCR) for diagnosis of CML, especially when the clinical picture and the test results are discordant.
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