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Pediatr Blood Cancer. 2015 Mar;62(3):542-4. doi: 10.1002/pbc.25271. Epub 2014 Oct 4.

Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.

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Center of Bone Marrow Transplantation, Hospital of University of the Ryukyus, Nishihara, Japan.


Germline mutations in CBL have been identified in patients with Noonan syndrome-like phenotypes, while juvenile myelomonocytic leukemia (JMML) harbors duplication of a germline CBL, resulting in acquired isodisomy. The association between moyamoya disease and Noonan syndrome carrying a PTPN11 mutation has recently been reported. We present a patient with JMML who developed moyamoya disease and neovascular glaucoma. Our patient exhibited a Noonan syndrome-like phenotype. Genetic analysis revealed acquired isodisomy and a germline heterozygous mutation in CBL. This is a rare case of CBL mutation associated with moyamoya disease. Prolonged RAS pathway signaling may cause disruption of cerebrovascular development.


CBL; Noonan syndrome-like disorder; juvenile myelomonocytic leukemia; moyamoya disease

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