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Unusual Relapse of Low Hypodiploid Acute Lymphoblastic Leukaemia in a Family with Li-Fraumeni Syndrome
  • +9
  • Frederik van-Delft,
  • Simon Bailey,
  • Kate Pearce,
  • Richard Martin,
  • Roderick Skinner,
  • Geoff Shenton,
  • Peter Carey,
  • quentin campbell-hewson,
  • Juliet Hale,
  • leigh mcdonald,
  • katrina robinson,
  • gavin cuthbert
Frederik van-Delft
Great North Children's Hospital

Corresponding Author:[email protected]

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Simon Bailey
Great North Children's Hospital
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Kate Pearce
Northern Genetics Service
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Richard Martin
Northern Genetics Service
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Roderick Skinner
Great North Children's Hospital
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Geoff Shenton
Great North Children's Hospital
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Peter Carey
Great North Children's Hospital
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quentin campbell-hewson
Great North Children's Hospital
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Juliet Hale
Great North Children's Hospital
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leigh mcdonald
Great North Children's Hospital
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katrina robinson
Northern Genetics Service
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gavin cuthbert
Northern Genetics Service
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Abstract

This brief report describes the importance of close discussion between clinicians and scientists and progress in leukaemia genetic work-up to deliver optimal treatment to a girl with 2 episodes of childhood Acute Lymphoblastic Leukaemia. At initial presentation, limited cytogenetic analyses did not identify any recurrent genetic abnormalities and the patient was subsequently treated according to NCI risk criteria on regimen A of UKALL2003. Nine years later, she presented with low hypodiploid ALL which was associated with genetically confirmed Li-Fraumeni Syndrome. Genetic backtracking established late relapse of the initial ALL which was instrumental in informing treatment decisions.