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

Pediatric Blood and Cancer

Volumn 62, Issue 3, 2015, Pages 542-544

  Hyakuna, Nobuyuki ^a   Muramatsu, Hideki ^b   Higa, Takeshi ^c   Chinen, Yasutsugu ^d   Wang, Xinan ^b   Kojima, Seiji ^b  

^a UNIVERSITY HOSPITAL OF THE RYUKYUS   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Okinawa Prefectural Nanbu Medical Center and Children's Medical Center and Children's Medical Center   (Japan)

^d UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

Author keywords

CBL; Juvenile myelomonocytic leukemia; Moyamoya disease; Noonan syndrome like disorder

Indexed keywords

BCR ABL PROTEIN; CBL PROTEIN; CYTARABINE; ETOPOSIDE; GENOMIC DNA; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; K RAS PROTEIN; MITOXANTRONE; PROTEIN TYROSINE PHOSPHATASE SHP 2; CBL PROTEIN, HUMAN; PROTEIN P21;

ARTICLE; BRAIN ATROPHY; CANCER CHEMOTHERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER RECURRENCE; CAROTID ARTERY OBSTRUCTION; CASE REPORT; CHILD; CHRONIC GRAFT VERSUS HOST DISEASE; CLINICAL FEATURE; COLONY FORMATION; DEVELOPMENTAL DISORDER; EYELID EDEMA; FEMALE; GENETIC ANALYSIS; GERMLINE MUTATION; HEMIPLEGIA; HEPATOSPLENOMEGALY; HUMAN; HYPERSENSITIVITY; HYPERTELORISM; IMMUNOSUPPRESSIVE TREATMENT; IRIS RUBEOSIS; JUVENILE MYELOMONOCYTIC LEUKEMIA; LEUKOCYTE COUNT; LOW DRUG DOSE; MAGNETIC RESONANCE ANGIOGRAPHY; MOYAMOYA DISEASE; MYELOID PROGENITOR CELL; NEOVASCULAR GLAUCOMA; NOONAN SYNDROME; ORAL BIOPSY; PERIPHERAL BLOOD STEM CELL TRANSPLANTATION; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; THROMBOCYTOPENIA; UNIPARENTAL DISOMY; VITREOUS HEMORRHAGE; COMPLICATION; GENETICS; METABOLISM; MUTATION; SIGNAL TRANSDUCTION;

CHILD; FEMALE; HUMANS; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MOYAMOYA DISEASE; MUTATION; NOONAN SYNDROME; ONCOGENE PROTEIN P21(RAS); PROTO-ONCOGENE PROTEINS C-CBL; SIGNAL TRANSDUCTION;

EID: 84921326570     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25271     Document Type: Article

References (14)

1. Schmidt MH, Dikic I. The Cbl interactome and its functions. Nat Rev Mol Cell Biol 2005; 6:907-918.
2. Kales SC, Ryan PE, Nau MM, et al. Cbl and human myeloid neoplasms: The Cbl oncogene comes of age. Cancer Res 2010; 70:4789-4794.
3. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: Molecular classification and treatment options. Br J Haematol 2008; 140:610-624.
4. Loh ML, Sakai DS, Flotho C, et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood 2009; 114:1859-1863.
5. Loh ML. Childhood myelodysplastic syndrome: Focus on the approach to diagnosis and treatment of juvenile myelomonocytic leukemia. Hematology Am Soc Hematol Educ Program 2010; 2010:357-362.
6. Niemeyer CM, Kang MW, Shin DH, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 2010; 42:794-800.
7. Martinelli S, De Luca A, Stellacci E, et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 2010; 87:250-257.
8. Muramatsu H, Makishima H, Jankowska AM, et al. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood 2010; 115:1969-1975.
9. Sakaguchi H, Okuno Y, Muramatsu H, et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nat Genet 2013; 45:937-941.
10. Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360:1226-1237.
11. Rosser TL, Vezina G, Packer RJ. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 2005; 64:553-555.
12. Hung PC, Wang HS, Wong AM. Moyamoya syndrome in a child with Noonan syndrome. Pediatr Neurol 2011; 45:129-131.
13. Aoki Y, Niihori T, Narumi Y, et al. The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders. Hum Mutat 2008; 29:992-1006.
14. Zhou B, Ye P, Wei S. Preliminary clinical analysis of neovascular glaucoma secondary to carotid artery disease. Clin Exp Optom 2011; 94:207-211.