Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23582141.
- Also identified by DOI 10.1016/j.jpeds.2013.03.007 and PMC identifier 3862975.
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Abstract
We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.
Medical subject headings
- Adenocarcinoma
- Adenosine Triphosphatases
- Cerebellar Neoplasms
- Colonic Neoplasms
- DNA Repair Enzymes
- DNA-Binding Proteins
- Gene Deletion
- Medulloblastoma
- Neoplasms, Multiple Primary