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Control of thrombotic thrombocytopenic purpura by sirolimus in a child with juvenile myelomonocytic leukemia and somatic N‐RAS mutation
Author(s) -
Maschan Michael,
Bobrynina Vlasta,
Khachatryan Lili,
Kalinina Irina,
Solopova Galina,
Avdonin Pavel,
Nasedkina Tatiana,
Novichkova Galina,
Maschan Alexei
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25013
Subject(s) - juvenile myelomonocytic leukemia , medicine , cyclophosphamide , sirolimus , germline mutation , immunology , leukemia , cancer research , haematopoiesis , oncology , mutation , chemotherapy , stem cell , biology , genetics , gene
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.