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

2.50
Hdl Handle:
http://hdl.handle.net/11287/615663
Title:
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
Authors:
Rankin, Julia; Short, J.; Turnpenny, Peter D.; Castle, Bruce; Hanemann, C.O.
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.
Citation:
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 2013, 161A (8):2027-9 Am. J. Med. Genet. A
Publisher:
Wiley
Journal:
American journal of medical genetics. Part A
Issue Date:
Aug-2013
URI:
http://hdl.handle.net/11287/615663
DOI:
10.1002/ajmg.a.36005
PubMed ID:
23813970
Additional Links:
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36005/abstract;jsessionid=DF4ABA8A74280E807616A336CBFFD906.f04t02
Note:
This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.
Type:
Case Report
Language:
en
ISSN:
1552-4833
Appears in Collections:
pre-2014 RD&E publications; Clinical Genetics (Peninsula Genetics)

Full metadata record

DC FieldValue Language
dc.contributor.authorRankin, Juliaen
dc.contributor.authorShort, J.en
dc.contributor.authorTurnpenny, Peter D.en
dc.contributor.authorCastle, Bruceen
dc.contributor.authorHanemann, C.O.en
dc.date.accessioned2016-07-07T08:51:01Z-
dc.date.available2016-07-07T08:51:01Z-
dc.date.issued2013-08-
dc.identifier.citationMedulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 2013, 161A (8):2027-9 Am. J. Med. Genet. Aen
dc.identifier.issn1552-4833-
dc.identifier.pmid23813970-
dc.identifier.doi10.1002/ajmg.a.36005-
dc.identifier.urihttp://hdl.handle.net/11287/615663-
dc.description.abstractMedulloblastoma 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.en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36005/abstract;jsessionid=DF4ABA8A74280E807616A336CBFFD906.f04t02en
dc.rightsArchived with thanks to American journal of medical genetics. Part Aen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleMedulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.en
dc.typeCase Reporten
dc.identifier.journalAmerican journal of medical genetics. Part Aen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.en
dc.type.versionPublisheden

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