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Simultaneous PML/RARalpha and AML1/ETO expression with t(15;17) at onset and relapse with only t(8;21) in an acute
R Bonomi1, H Giordano, M del Pilar Moreno
1Asociación Española Primera de Socorros Mutuos, Montevideo, Bd. 2653/506, C.P. 11300, España, Uruguay. rbonomi@asesp.com.uy
Abstract:
We report a patient with acute promyelocytic leukemia with the common translocation (15;17) and PML-RARAalpha fusion gene. In relapse, blasts showed typical FAB M2 morphologic features, and the karyotype was 45,X, -Y,t(8;21). A reexamination of the leukemic cells at diagnosis revealed that an AML1-ETO fusion gene was also present at that time without cytogenetic evidence of t(8;21). In relapse, only t(8;21) was detected. Two different clones were identified by cytogenetic standard techniques. The association of two common translocations supervening in the same time in the same cells could not be established.
Insights
This study details a patient with acute promyelocytic leukemia who presented with two distinct genetic mutations, t(15;17) and t(8;21), over the course of their illness.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Acute promyelocytic leukemia (APL) is characterized by the t(15;17) translocation, forming the PML-RARAalpha fusion gene.
- The FAB M2 subtype of acute myeloid leukemia (AML) is associated with the t(8;21) translocation, forming the AML1-ETO fusion gene.
Observation:
- A patient initially diagnosed with APL and t(15;17) presented with relapse exhibiting FAB M2 morphology and a t(8;21) karyotype.
- Re-examination revealed the presence of the AML1-ETO fusion gene at initial diagnosis, despite the absence of cytogenetic evidence for t(8;21).
Findings:
- Two distinct leukemic clones were identified through cytogenetic analysis.
- The study identified the co-occurrence of PML-RARAalpha and AML1-ETO fusion genes in the same patient, with distinct cytogenetic evidence emerging at different disease stages.
Implications:
- This case highlights the potential for complex genetic evolution in leukemia.
- Understanding the emergence of multiple translocations is crucial for accurate diagnosis and targeted therapy in hematologic malignancies.
- Further research is needed to elucidate the mechanisms driving the supervention of translocations in leukemia.
