Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation.
BACKGROUND
A 37-year-old woman presented with a supratentorial cerebral mass, which was diagnosed histologically as a primitive neuroectodermal tumor. She had been treated for rectal adenocarcinoma 7 years previously. A family history revealed a young-onset colorectal carcinoma in the patient's father.


METHODS
Immunohistochemical analysis for DNA mismatch repair proteins, germline mutation analysis of MSH2.


METHODS
Lynch syndrome with a heterozygous germline mutation in MSH2.


RESULTS
Debulking of the cerebral tumor, craniospinal axis radiotherapy, and genetic counseling of family.
Jeans
Alexander F
AF
Department of Neuropathology, John Radcliffe Hospital, Oxford, UK. alexander.jeans@orh.nhs.uk
Frayling
Ian
I
Jasani
Bharat
B
Side
Lucy
L
Blesing
Claire
C
Ansorge
Olaf
O
D000328:Adult; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D053843:DNA Mismatch Repair / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000532:radiotherapy; D010375:Pedigree; D011859:Radiography; D017422:Sequence Analysis, DNA
D051718:MutS Homolog 2 Protein