Journal article
DNA mismatch repair defects and microsatellite instability status in periocular sebaceous carcinoma
American journal of ophthalmology, Vol.157(3), pp.640-647.e2
03/2014
DOI: 10.1016/j.ajo.2013.12.002
PMID: 24321472
Abstract
To characterize mismatch repair protein expression and the role of DNA repair abnormalities in sebaceous carcinomas of the ocular adnexa.
Retrospective case-series study.
We reviewed 10 cases of sporadic sebaceous carcinoma and 1 case involving a patient with a family history consistent with Muir-Torre syndrome. Immunohistochemistry was used to analyze the presence of 4 mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) in these tumors. DNA was extracted from 7 of the larger tumors as well as from adjacent normal control tissue and microsatellite instability (MSI) analysis using 5 highly sensitive mononucleotides and 2 pentanucleotides was performed.
All 10 sporadic periocular sebaceous carcinomas maintained strong staining of the 4 mismatch repair genes, while tumor from the patient with Muir-Torre syndrome showed loss of staining for the mismatch repair genes MSH2 and MSH6. MSI testing of 7 tumors identified no changes in sporadic cases and yielded results supporting presence of repeat sequence instability in the Muir-Torre-associated case.
Sporadic sebaceous carcinoma of the ocular adnexa is not commonly associated with a loss of mismatch repair genes or microsatellite instability.
Details
- Title: Subtitle
- DNA mismatch repair defects and microsatellite instability status in periocular sebaceous carcinoma
- Creators
- Anand Rajan Kd - Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MarylandChristopher Burris - Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MarylandNicholas Iliff - Department of Ophthalmology, Johns Hopkins University School of Medicine Wilmer Eye Institute, Baltimore, MarylandMichael Grant - Department of Ophthalmology, Johns Hopkins University School of Medicine Wilmer Eye Institute, Baltimore, MarylandJames R Eshleman - Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MarylandCharles G Eberhart - Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Ophthalmology, Johns Hopkins University School of Medicine Wilmer Eye Institute, Baltimore, Maryland. Electronic address: ceberha@jhmi.edu
- Resource Type
- Journal article
- Publication Details
- American journal of ophthalmology, Vol.157(3), pp.640-647.e2
- Publisher
- United States
- DOI
- 10.1016/j.ajo.2013.12.002
- PMID
- 24321472
- ISSN
- 0002-9394
- eISSN
- 1879-1891
- Language
- English
- Date published
- 03/2014
- Academic Unit
- Pathology
- Record Identifier
- 9984047636602771
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