Philadelphia-Negative Chronic Myeloid Leukaemia with ETV6-ABL1 Fusion Gene: A Case Report
Keywords:
Chronic Myeloid leukemia, Philadelphia-negative CML, ETV6-ABL1 fusion gene, case report.Abstract
Chronic myeloid leukaemia (CML) is typically characterized by the presence of Philadelphia chromosome, the product of reciprocal translocation between 9q34 and 22q11, resulting in generation of BCR-ABL1 fusion protein. In rare cases, another translocation involving 9q34 and 12p13, encoding ETV6-ABL1 fusion protein has been reported. Here we described a man with Philadelphia-negative CML but positive for the ETV6-ABL1 fusion gene. A 44-year-old gentleman was referred for hyperleucocytosis. Physical examination revealed lymphadenopathies and hepatosplenomegaly. The bone marrow examination was consistent with CML in chronic phase. Bone marrow cytogenetic displayed normal male chromosome. Molecular method using multiplex Reverse Transcriptase-Polymerase Chain Reaction analysis capable of detecting 28 mutations, had only identified ETV6-ABL1 fusion gene, or translocation (9;12)(q34;p13). Cytoreductive and imatinib therapy were initiated. Unfortunately, he had poor response to this treatment; hence he was advised for allogeneic haematopoietic stem cell transplantation. The present case highlights the importance of molecular study in identifying the cryptic chromosomal translocation and the therapy resistance of ETV6-ABL1-positive CML to imatinibReferences
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