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Original Research Article

Year: 2019 | Month: March | Volume: 6 | Issue: 3 | Pages: 8-11

Application of Fluorescence in situ Hybridization in Detection of PML/RARA Translocation in Patients with Acute Promyelocytic Leukemia

Anjali Shastry1, Amudha Subramaniam1, Preetha Tilak2

1Lecturer, 2Junior Consultant,
Division of Human Genetics, Department of Anatomy, St.John’s Medical College, Bangalore-34, India.

Corresponding Author: Anjali Shastry


Background: Acute promyelocytic leukaemia (APML) is a sub-type of acute myeloid leukaemia (AML). APML accounts for 10% of all AML diagnosis. Diagnosis is made by presence of abnormal promyelocytes in circulating blood and bone marrow smear and presence of PML RARA fusion transcript which is responsible for leukemogenesis. Fluorescence in situ Hybridisation (FISH) plays key role in confirming diagnosis by detecting PML/RARA (15;17) translocation which will help in deciding treatment and prognosis in patients diagnosed with APML.
Aims and objectives: To estimate presence of PML/RARA translocation in patients diagnosed with APML using FISH.
Materials and methods: Bone marrow samples of 20 patients diagnosed with APML was collected for standardized lymphocyte culture method followed by standard protocol for FISH using commercially available probes for PML /RARA gene. Ethical clearance was obtained from institutional ethical committee.
Results: Out of 20 patients, 18 patients had shown positive result for PML/RARA translocation. Hence 90% of patients showed positive results for fusion gene.
Conclusion: Detection of PML/ RARA translocation helps in rapid diagnosis as well as treatment of patient with APML. Further it will also help in prognosis and follow up to detect residual disease in these patients.

Key words: Acute promyelocytic leukemia, PML/RARA gene, FISH, Cytogenetics, ATRA

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