Back to Search
Start Over
Mismatch repair protein deficiency is common in sebaceous neoplasms and suggests the importance of screening for Lynch syndrome.
- Source :
-
The American Journal of dermatopathology [Am J Dermatopathol] 2013 Apr; Vol. 35 (2), pp. 191-5. - Publication Year :
- 2013
-
Abstract
- The association between Lynch syndrome and sebaceous neoplasms is well characterized. The absence of expression of mismatch repair proteins (MMRPs) by immunohistochemistry (IHC) is often used in other Lynch-associated tumors to guide testing. IHC for MLH1, PMS2, MSH2, and MSH6 was performed on 36 benign and malignant sebaceous neoplasms with the absence of one or more MMRP in 38.9% of cases. Among lesions with abnormal IHC, 71.4% were missing both MSH2 and MSH6, 21.4% lacked MLH1 and PMS2, and 7.1% lacked only MSH6. Of the 10 patients with absent MMRP, 5 had gene-test confirmed Lynch syndrome, 3 had no suggestive personal or family medical history and 2 had no recorded data. Tumor-infiltrating lymphocytes in neoplasms with absent MMRP were statistically significantly greater than in those with intact MMRP (16.5 vs. 9.7, P = 0.027). MMRP deficiency is common in sebaceous neoplasms, suggesting the importance of screening for Lynch syndrome in these patients.
- Subjects :
- Adaptor Proteins, Signal Transducing deficiency
Adenosine Triphosphatases deficiency
Colorectal Neoplasms, Hereditary Nonpolyposis genetics
DNA Repair
DNA Repair Enzymes deficiency
DNA-Binding Proteins deficiency
Humans
Immunohistochemistry
Mismatch Repair Endonuclease PMS2
MutL Protein Homolog 1
MutS Homolog 2 Protein deficiency
Nuclear Proteins deficiency
Sebaceous Gland Neoplasms genetics
Colorectal Neoplasms, Hereditary Nonpolyposis metabolism
Neoplasms, Multiple Primary metabolism
Sebaceous Gland Neoplasms metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1533-0311
- Volume :
- 35
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- The American Journal of dermatopathology
- Publication Type :
- Academic Journal
- Accession number :
- 22722469
- Full Text :
- https://doi.org/10.1097/DAD.0b013e31825f7efe