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Acute Promyelocytic Leukemia with t(2;3): An Unusual Additional Chromosomal Abnormality
Smeeta Gajendra1, Anil Kumar Yadav2, Manorama Bhargava3
1Laboratory Oncology Unit, Dr BRAIRCH, All India Institute of Medical Sciences, New Delhi, 110029 India.
Abstract:
Acute promyelocytic leukemia is a distinct subset of acute myeloid leukemia with characteristic clinical, morphological and genetic features. The gene product PML-RAR alpha resulting from reciprocal t(15;17) translocation, plays a pivotal role in the pathogenesis of acute promyelocytic leukemia and classified as favorable cytogenetic features. We are describing an unusual additional chromosomal abnormality t(2;3) in APL patient.
Insights
Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia. Researchers identified an unusual additional chromosomal abnormality, t(2;3), in an APL patient, adding to the known t(15;17) translocation.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia.
- APL is characterized by specific clinical, morphological, and genetic features.
- The PML-RAR alpha fusion gene, resulting from the t(15;17) translocation, is crucial in APL pathogenesis and considered a favorable cytogenetic feature.
Purpose of the Study:
- To report an unusual additional chromosomal abnormality in a patient diagnosed with acute promyelocytic leukemia.
- To highlight the genetic complexity that can be present in APL beyond the characteristic t(15;17) translocation.
Main Methods:
- Karyotyping was performed on the bone marrow sample of the APL patient.
- Analysis of the chromosomal abnormalities present in the patient's leukemic cells.
Main Results:
- The patient's leukemic cells exhibited the characteristic t(15;17) translocation.
- An additional, unusual chromosomal abnormality, t(2;3), was identified in the same patient.
Conclusions:
- The presence of an additional t(2;3) translocation in APL is rare and noteworthy.
- This finding expands the understanding of cytogenetic variations in acute promyelocytic leukemia.
- Further research may be needed to determine the clinical significance of additional chromosomal abnormalities in APL.
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