Nikhil Rabade, Goutham Raval, Shruti Chaudhary, PG Subramanian, Rohan Kodgule, Swapnali Joshi, Prashant Tembhare, Hasmukh Jain, Manju Sengar, Syed Hasan K, Pratibha Amare Kadam, Dhanalaxmi Shetty, Gaurav Narula, Shripad Banavali, Sumeet Gujral, Nikhil Patkar
  • Nikhil Rabade
    Tata Memorial Centre, Mumbai,
  • Goutham Raval
    Tata Memorial Centre, Mumbai,
  • Shruti Chaudhary
    Tata Memorial Centre, Mumbai,
  • PG Subramanian
    Tata Memorial Centre, Mumbai,
  • Rohan Kodgule
    Tata Memorial Centre, Mumbai,
  • Swapnali Joshi
    Tata Memorial Centre, Mumbai,
  • Prashant Tembhare
    Tata Memorial Centre, Mumbai,
  • Hasmukh Jain
    Tata Memorial Centre, Mumbai,
  • Manju Sengar
    Tata Memorial Centre, Mumbai,
  • Syed Hasan K
    Tata Memorial Centre, Mumbai,
  • Pratibha Amare Kadam
    Tata Memorial Centre, Mumbai,
  • Dhanalaxmi Shetty
    Tata Memorial Centre, Mumbai,
  • Gaurav Narula
    Tata Memorial Centre, Mumbai,
  • Shripad Banavali
    Affiliation not present
  • Sumeet Gujral
    Tata Memorial Centre, Mumbai,


Atypical breakpoints and variant APL cases involving alternative chromosomal aberrations are seen in a small subset of acute promyelocytic leukemia (APL) patients. Over 7 different partner genes for RARA have been described. Although rare, these variants prove to be a diagnostic challenge and require combination of advanced cytogenetic and molecular techniques for accurate characterization. Heterogeneity occurs not only at the molecular level but also at clinico-pathological level influencing treatment response and outcome. In this case series we describe the molecular heterogeneity of APL seen in a single tertiary referral centre with a focus on seven variant APL cases from a single tertiary cancer center in India over a period of two and a half years. We discuss five cases with PLZF-RARA fusion and two novel PML-RARA variants, including a Bcr3 variant involving fusion of PML exon4 and RARA exon3 with an additional 40 nucleotides originating from RARA intron2, another involving exon 6 of PML and exon 3 of RARA with addition of 126 nucleotides, which mapped to the central portion of RARA intron 2  To the best of our knowledge this is the first of kind case series from India


Acute promyelocytic leukemia molecular subtypes in India, variant APL, PLZF-RARA, rare translocations of APL

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Published: 2018-01-01 00:00:00
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