Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Noonan syndrome-like disorder and juvenile myelomonocytic leukemia

Noonan syndrome-like disorder and juvenile myelomonocytic leukemia is caused by CBL mutations, fusion genes in particular. Inheritance pattern is autosomal dominant.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
Myelofibrosis
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
CBL
Polycythemia vera
Somatic erythrocytosis
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

References:

1.

Loh ML et. al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

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2.

Pérez B et. al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

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3.

Martinelli S et. al. (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

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4.

Niemeyer CM et. al. (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

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5.

Bülow L et. al. (2015) Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

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Update: Sept. 26, 2018