Center of Bone Marrow Transplantation, Hospital of University of the Ryukyus, Nishihara, Japan.
Pediatr Blood Cancer. 2015 Mar;62(3):542-4. doi: 10.1002/pbc.25271. Epub 2014 Oct 4.
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 种系突变已在类诺南综合征表型的患者中被发现，而幼年髓单核细胞白血病（JMML）则存在 CBL 种系的重复，导致获得性等二倍体。近来有报道称，烟雾病与携带 PTPN11 突变的诺南综合征之间存在关联。我们报告了一例患有 JMML 的患者，该患者发生了烟雾病和新生血管性青光眼。我们的患者表现出类诺南综合征表型。基因分析显示获得性等二倍体和 CBL 的种系杂合突变。这是一例罕见的与烟雾病相关的 CBL 突变病例。RAS 通路信号的持续激活可能导致脑血管发育的中断。
