Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
We describe the case of a patient with transcobalamin II deficiency, hypogammaglobulinemia, absent corpus callosum, and mental retardation who presented at an early age with colorectal cancer and multifocal anaplastic astrocytoma. He was found to have a possible germline mutation of the PMS2 gene, as evidenced by absent protein expression in both normal and tumor tissues. His parents were found to be carriers of a nonsense mutation of the PMS2 gene.
Gururangan
Sridharan
S
The Preston Robert Tisch Brain Tumor Center at Duke, Duke University Medical Center, Durham, NC 27710, USA. gurur002@mc.duke.edu
Frankel
Wendy
W
Broaddus
Russell
R
Clendenning
Mark
M
Senter
Leigha
L
McDonald
Marie
M
Eastwood
James
J
Reardon
David
D
Vredenburgh
James
J
Quinn
Jennifer
J
Friedman
Henry S
HS
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001254:Astrocytoma / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003106:Colon / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D000070976:Mismatch Repair Endonuclease PMS2; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014155:Transcobalamins / Q000172:deficiency
D004268:DNA-Binding Proteins; D014155:Transcobalamins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes