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Essential thrombocythemia with BCR/ABL rearrangement
Y L Kwong1, E K Chiu, R H Liang
1University Department of Medicine, Queen Mary Hospital, Hong Kong, Hong Kong.
Cancer Genetics and Cytogenetics
|July 1, 1996
Summary
Essential thrombocythemia (ET) with BCR gene rearrangements can mimic chronic myeloid leukemia (CML). However, distinct clinical differences suggest additional genetic factors may influence disease presentation and progression in these Philadelphia chromosome-negative cases.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by elevated platelet counts.
- BCR gene rearrangements, typically associated with Philadelphia chromosome-positive chronic myeloid leukemia (CML), can also occur in other myeloid malignancies.
- Understanding the molecular basis of ET is crucial for accurate diagnosis and treatment.
Observation:
- Three patients diagnosed with ET were analyzed.
- Karyotypic analysis and reverse transcription polymerase chain reaction (RT-PCR) identified BCR-ABL chimeric transcripts in all three patients.
- Two patients were Philadelphia chromosome (Ph) positive and BCR-ABL positive, while one patient was Ph negative but BCR-ABL positive.
Findings:
- One Ph-positive, BCR-ABL-positive patient underwent allogeneic bone marrow transplantation but relapsed with blastic transformation, resembling CML.
- The other patients, including the Ph-negative, BCR-ABL-positive individual, exhibited clinical courses consistent with ET.
- ET cases with BCR rearrangements may present with clinical features overlapping with CML, but distinct differences exist.
Implications:
- The presence of BCR rearrangements in ET does not invariably lead to a CML-like clinical course.
- Genetic alterations beyond BCR rearrangement likely contribute to the phenotypic variability observed in these patients.
- Further research into additional genetic changes is warranted to fully elucidate the pathogenesis and clinical behavior of ET with BCR rearrangements.