Isochromosome der(17)(q10)t(15;17) with an Additional Copy of RARa-PML Fusion Gene in Two Young APML Patients
Journal Title: GUJARAT CANCER SOCIETY RESEARCH JOURNAL - Year 2014, Vol 16, Issue 1
Abstract
Acute promyelocytic leukemia (APML) is associated with the t(15;17)(q22;q21) translocation. The two chimeric genes, PML-RARa and RARa-PML are reported to play a role in leukemogenesis. Isochromosome of the long arm of the derivative chromosome 17, originating from the translocation t(15;17) [ider(17)(q10)t(15;17) or ider(17q)] in APML, is a rare chromosomal aberration which has been associated with a poor prognosis. In the present study, we report two APML patients with ider(17q) with poor prognosis. Conventional cytogenetics and FISH (Fluorescence in situ hybridization) analysis with different FISH probes helped to confirm ider(17q). Studies on RARa-PML dosage, effect and the influence of ider(17)(q10)t(15;17) on clinical features such as prognosis, survival, and treatment response of APML cases have been documented earlier. The present study showed poor prognosis with ider(17)(q10) t(15;17) which is in accordance with the literature.
Authors and Affiliations
Pina Trivedi, Mnisha Brahhmbhatt, Dharmesh Patel, Shilin Shukla, Prabhudas Patel
Keywords
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