Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir‐Torre Syndrome: A Meta‐Analysis
Year: 2025
Type: article
Study designs: Systematic Review, Meta-Analysis
Abstract: BACKGROUND: Muir-Torre syndrome (MTS) is a hereditary tumor predisposition syndrome associated with sebaceous neoplasms. Immunohistochemistry (IHC) for loss of mismatch repair (MMR) proteins in these tumors is used as a screening test, but its diagnostic accuracy has not been rigorously assessed. METHODS: We conducted a meta-analysis of 25 studies involving 692 patients who underwent IHC testing for MMR protein loss in sebaceous neoplasms. RESULTS: , 77%). Restricting the meta-analysis to more rigorous studies with exposure-based designs and germline mutation as the reference standard yielded higher sensitivity (0.91; 95% CI: 0.83-0.96) and lower specificity (0.14; 95% CI: 0.06-0.27). Hypothetically restricting testing to patients under 60 years or tumors outside the head/neck locations increased specificity (0.87 and 0.88, respectively) but reduced sensitivity (0.60 and 0.37, respectively). A two-antibody panel (MSH6 and PMS2) performed equivalently to a four-antibody panel (MLH1, MSH2, MSH6, and PMS2). CONCLUSIONS: IHC testing can discriminate between sporadic and MTS-associated sebaceous neoplasms, but diagnostic utility is limited by low specificity. Most MMR-deficient cases are not due to MTS.
Source: Journal of Cutaneous Pathology
DOI: 10.1111/cup.70026
Authors: Jack Hulse, Allison Swanson, Emily O'Donnell, Garth Fraga
Institution: University of Missouri–Kansas City
Language: English
Topic: Cancer and Skin Lesions
Subfield: Dermatology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4416764119