Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

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.

• Authors: Julia Rankin, John Short, Peter Turnpenny, Bruce Castle, C Oliver Hanemann
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 8 Pg. 2027-9 (Aug 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 23813970 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc.

Chemical References

• DNA
• PTPN11 protein, human
• Protein Tyrosine Phosphatase, Non-Receptor Type 11

Topics

• Adult
• DNA (analysis, genetics)
• Humans
• LEOPARD Syndrome (complications, genetics)
• Male
• Medulloblastoma (etiology, pathology)
• Middle Aged
• Mutation (genetics)
• Phenotype
• Polymerase Chain Reaction
• Protein Tyrosine Phosphatase, Non-Receptor Type 11 (genetics)
• Young Adult