Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
Publication
, Journal Article
Gururangan, S; Frankel, W; Broaddus, R; Clendenning, M; Senter, L; McDonald, M; Eastwood, J; Reardon, D; Vredenburgh, J; Quinn, J; Friedman, HS
Published in: Neuro Oncol
February 2008
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.
Duke Scholars
Published In
Neuro Oncol
DOI
ISSN
1522-8517
Publication Date
February 2008
Volume
10
Issue
1
Start / End Page
93 / 97
Location
England
Related Subject Headings
- Transcobalamins
- Polymorphism, Single Nucleotide
- Pedigree
- Oncology & Carcinogenesis
- Mutation
- Mismatch Repair Endonuclease PMS2
- Male
- Intellectual Disability
- Immunohistochemistry
- Humans
Citation
APA
Chicago
ICMJE
MLA
NLM
Gururangan, S., Frankel, W., Broaddus, R., Clendenning, M., Senter, L., McDonald, M., … Friedman, H. S. (2008). Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. Neuro Oncol, 10(1), 93–97. https://doi.org/10.1215/15228517-2007-037
Gururangan, Sridharan, Wendy Frankel, Russell Broaddus, Mark Clendenning, Leigha Senter, Marie McDonald, James Eastwood, et al. “Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.” Neuro Oncol 10, no. 1 (February 2008): 93–97. https://doi.org/10.1215/15228517-2007-037.
Gururangan S, Frankel W, Broaddus R, Clendenning M, Senter L, McDonald M, et al. Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. Neuro Oncol. 2008 Feb;10(1):93–7.
Gururangan, Sridharan, et al. “Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.” Neuro Oncol, vol. 10, no. 1, Feb. 2008, pp. 93–97. Pubmed, doi:10.1215/15228517-2007-037.
Gururangan S, Frankel W, Broaddus R, Clendenning M, Senter L, McDonald M, Eastwood J, Reardon D, Vredenburgh J, Quinn J, Friedman HS. Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. Neuro Oncol. 2008 Feb;10(1):93–97.
Published In
Neuro Oncol
DOI
ISSN
1522-8517
Publication Date
February 2008
Volume
10
Issue
1
Start / End Page
93 / 97
Location
England
Related Subject Headings
- Transcobalamins
- Polymorphism, Single Nucleotide
- Pedigree
- Oncology & Carcinogenesis
- Mutation
- Mismatch Repair Endonuclease PMS2
- Male
- Intellectual Disability
- Immunohistochemistry
- Humans