27 September 2019

A young child has been successfully treated for juvenile myelomonocytic leukaemia (JMML), after genetic analysis of the disease pointed to a drug approved for completely different cancers.

Chemotherapy failed to control the child’s disease, which led doctors at the UCSF Benioff Children’s Hospital in San Francisco, USA, to carry out a genetic analysis of the boy’s cancer.

Most JMML cases have mutations that hyperactivate the Ras signalling pathway. However, in this case the genetic test found, unexpectedly, a fusion involving the FLT3 gene. The doctors say the case highlights the “highly variable” nature of the disease.

This led the doctors to sorafenib, a FLT3 inhibitor approved for treatment of adults with advanced liver or kidney cancer.

Treatment with sorafenib enabled the patient to undergo a stem cell transplant after ten weeks. Reporting in the journal Leukemia, the doctors say the child is still in remission, several months after treatment was stopped.

Dr Elliot Stieglitz, from the University of California San Francisco, said: “The patient’s history reveals that the one-size-fits-all treatment approach does not work well for all children with JMML.

“The course of JMML is highly variable. In rare cases, children spontaneously go into remission with minimal treatment - while half of all patients suffer from a highly aggressive form of the disease that fails to respond to stem cell transplant.”

He added: “We recommend that all patients without Ras mutations undergo RNA sequencing to identify any fusions that might be treated with targeted therapies.”


Source: Chao, A.K., Meyer, J.A., Lee, A.G., Hecht, A., Tarver, T., Van Ziffle, J., Koegel, A.K., Golden, C., Braun, B.S., Sweet-Cordero, E.A., Smith, C.C., Dvorak, C.C., Loh, M.L., Stieglitz, E. (2019) “Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing”, Leukemia, available from doi: 10.1038/s41375-019-0549-y


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