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Control of thrombotic thrombocytopenic purpura by sirolimus in a child with juvenile myelomonocytic leukemia and somatic N-RAS mutation


  • Conflict of interest: Nothing to declare.
  • M.M. was the principal investigator and takes primary responsibility for the paper. V.B., P.A., T.N. and E.O. developed and implemented laboratory tests, acquired and interpreted laboratory results, L.K., I.K., G.S. cared for the patient at different time periods, acquired and interpreted clinical data, M.M., G.A. and A.M. drafted and revised the paper.


We describe an infant who developed juvenile myelomonocytic leukemia (JMML) at the age of 6 months. Myeloproliferation was effectively controlled by low-dose cytosine arabinoside and 13-cis retinoic acid therapy. Two years after therapy for JMML was stopped, at the age of 5 years, the patient developed autoimmune thrombotic thrombocytopenic purpura (TTP). TTP was transiently controlled by plasma exchange, prednisolone, rituximab, and cyclophosphamide, but relapsed within a short time. Long-term control of TTP was established by sirolimus. Somatic N-RAS G38A→Gly13Asp substitution was restricted to hematopoietic cells. The somatic N-RAS mutation may link myeloproliferation and autoimmunity. Pediatr Blood Cancer 2014; 61:1871–1873. © 2014 Wiley Periodicals, Inc.

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