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A novel amplification of JAK2 in a case of relapsed pediatric B-ALL
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  • Dhanlaxmi Shetty,
  • Elizabeth Talker,
  • Chetan Dhamne,
  • Purvi Mohanty,
  • Kruti Thakkar,
  • Prashant Tembhare,
  • Nikhil Patkar,
  • Papagudi Subramanian,
  • Nirmalya Roy Moulik,
  • Gaurav Narula,
  • Sripad Banavali
Dhanlaxmi Shetty
Advanced Centre for Treatment Research and Education in Cancer

Corresponding Author:dhanlaxmis22@gmail.com

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Elizabeth Talker
ACTREC
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Chetan Dhamne
Tata Memorial Hospital
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Purvi Mohanty
Advanced Centre for Treatment Research and Education in Cancer
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Kruti Thakkar
Advanced Centre for Treatment Research and Education in Cancer
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Prashant Tembhare
Tata Memorial Centre
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Nikhil Patkar
Tata Memorial Centre
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Papagudi Subramanian
Tata Memorial Centre
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Nirmalya Roy Moulik
Royal Marsden Hospital Sutton
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Gaurav Narula
Tata Memorial Centre
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Sripad Banavali
Tata Memorial Centre
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Abstract

B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous disease wherein cytogenetics comprises an independent prognostic factor. Cytogenetic subgroups like B-ALL with t(9;22), MLL rearrangement, hypodiploidy, and Ph-like ALL are stratified as high-risk and are treated on the high-risk regimen. However, a subset that does not fall into a specific cytogenetic risk groups, is classified as cytogenetics NOS (Not Otherwise Specified) and might receive suboptimal chemotherapy. Identifying genetic abnormalities that are susceptible to targeted therapy can help improve outcomes. Therefore, with the intent to report cytogenetic data potentially useful for targeted therapy, we report a novel JAK2 amplification in a cytogenetically complex pediatric B-ALL case with early relapse.