Unusual Relapse of Low Hypodiploid Acute Lymphoblastic Leukaemia in a
Family with Li-Fraumeni Syndrome
- 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
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.