Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026986 (
myelodysplastic syndrome
)
14,926
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The RAS/mitogen-activated protein kinase pathway plays a significant role in cell cycle regulation. Germline mutation of this pathway leads to overlapping genetic disorders, RASopathies, and is also an important component of tumorigenesis. Here we describe a rare case of
myelodysplastic syndrome
with monosomy 7 in a pediatric patient with a germline
RRAS
mutation.
RRAS
mutations have been implicated in the development of juvenile myelomonocytic leukemia, but our case suggests
RRAS
mutations display a broader malignant potential. Our case supports the recommendation that genetic testing should include
RRAS
in suspected RASopathy patients and if identified, these patients undergo surveillance for hematologic malignancy.
...
PMID:Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies. 3281 81
