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Published on: December 22, 2016
Acute promyelocytic leukaemia with a novel translocation t(16;17)(q12;p13): a case report
1Sheri-kashmir Institute of Medical Sciences (SKIMS), Department of Clinical Hematology, Srinagar, Jammu and Kashmir (J&K), India. bashirnusrat@ymail.
Abstract:
Acute promyelocytic leukaemia (APML) is characterised by the t(15;17)(q22;q21), that results in the fusion of the promyelocytic leukaemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current case report describes a 13-year-old male with APML, who was negative for PML/RARA fusion signal but reported to have an atypical translocation t(16;17). To the best of our knowledge this is the first case report of APML responsive to ATRA with such a translocation.
Insights
This case report details a 13-year-old with acute promyelocytic leukaemia (APML) who responded to ATRA treatment despite an atypical t(16;17) translocation and negative PML/RARA fusion signal.
Area of Science:
- Hematology
- Oncology
- Molecular Genetics
Background:
- Acute promyelocytic leukaemia (APML) is typically defined by the characteristic t(15;17) translocation, leading to the PML/RARA fusion gene.
- This genetic hallmark is crucial for diagnosis and influences treatment strategies, including the use of all-trans retinoic acid (ATRA).
Observation:
- A 13-year-old male presented with APML but lacked the expected PML/RARA fusion signal.
- Diagnostic investigations revealed an atypical translocation, specifically t(16;17), in the patient's leukemic cells.
Findings:
- Despite the absence of the canonical PML/RARA fusion, the patient's APML demonstrated a positive response to ATRA therapy.
- This case represents the first documented instance of ATRA-responsive APML associated with a t(16;17) translocation.
Implications:
- The findings challenge the traditional diagnostic criteria for APML, suggesting that alternative genetic aberrations can result in a similar clinical and molecular phenotype.
- This case highlights the importance of considering atypical genetic translocations in APML diagnosis and underscores the potential efficacy of ATRA even in non-canonical cases.
- Further research into the molecular mechanisms underlying ATRA response in APML with variant translocations is warranted.
