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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
[Acute monoblastic leukemia with tetrasomy 8]
Junichi Kameoka1, Takahiro Horiuchi, Koichi Miyamura
1Department of Rheumatology and Hematology, Tohoku University School of Medicine.
[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|September 22, 2006
Summary
Tetrasomy 8, a rare chromosomal abnormality in acute leukemia, is confirmed as a poor prognostic factor. This case highlights its aggressive nature and challenges in achieving long-term remission in acute myeloid leukemia.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Tetrasomy 8 is a rare chromosomal abnormality observed in acute leukemia.
- It is increasingly recognized as a significant poor prognostic factor in leukemia patients.
Observation:
- A 20-year-old female presented with purpura and was diagnosed with acute myeloid leukemia (AML M5a).
- Bone marrow analysis revealed 85.6% blast cells and karyotypic analysis showed tetrasomy 8 (48, XY, +8, +8).
Findings:
- The patient achieved complete remission after initial chemotherapy with daunorubicin and cytosine arabinoside.
- She relapsed four months later with an extramedullary tumor, and subsequent treatment including stem cell transplantation failed to achieve durable remission.
Implications:
- This case underscores the poor prognosis associated with tetrasomy 8 in acute leukemia.
- It highlights the aggressive behavior and treatment resistance often seen in leukemia with this chromosomal abnormality.
