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Medulloblastoma in a patient with thePTPN11p.Thr468Met mutation
- Source :
- American Journal of Medical Genetics Part A. 161:2027-2029
- Publication Year :
- 2013
- Publisher :
- Wiley, 2013.
-
Abstract
- Medulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome), Costello syndrome, Cardiofaciocutaneous syndrome, Legius syndrome, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies. Although an association between medulloblastoma and NF1 has been reported, this tumor has not previously been reported in other RASopathies. We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. Medulloblastoma could therefore be part of the tumor spectrum associated with this disorder.
- Subjects :
- Adult
Male
Oncology
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Cardiofaciocutaneous syndrome
Polymerase Chain Reaction
LEOPARD Syndrome
Young Adult
Costello syndrome
Internal medicine
Genetics
medicine
Humans
Neurofibromatosis
neoplasms
Genetics (clinical)
Legius syndrome
Medulloblastoma
business.industry
DNA
Middle Aged
medicine.disease
nervous system diseases
stomatognathic diseases
Phenotype
Endocrinology
Mutation
Noonan syndrome
business
Noonan Syndrome with Multiple Lentigines
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 161
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....f6f100ddf80bdd0f65cc34c2894a786a