Site and Tumor Type Predicts DNA Mismatch Repair Status in Cutaneous Sebaceous Neoplasia

Abstract

Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy. Other tumors, such as colonic carcinoma, show tendencies toward particular histologic features and sites of involvement correlating with MMR deficiency. There are few comprehensive studies of unselected cutaneous sebaceous neoplasms. To address this gap in knowledge, we examined 94 sebaceous neoplasms from 92 patients and 17 sebaceous hyperplasia controls using immunohistochemistry for MLH1, MSH2, and MSH6. Our results indicate that MMR deficiency is significantly associated with anatomic location (more frequently in the trunk and extremities as compared with head and neck), tumor type (more often in adenoma compared with carcinoma within the head and neck region), and architecture (keratoacanthomalike). No correlation between cystic change and MMR deficiency was noted. Cutaneous sebaceous neoplasia has tendencies toward certain tumor types and anatomic distribution based on MMR status analogous to that seen in colonic carcinomas and other tumors. These may be helpful indicators for further workup for the Muir-Torre syndrome.

Muir-Torre Syndrome

“…In MTS, sebaceous tumors below the neck are more common than facial or eye lesions. 11 Sebaceous adenomas and sebaceomas typically present as painless, yellow, round papules or subcutaneous nodules, some of which may show central umbilication (similar to molluscum contagiosum). Sebaceous carcinomas usually arise in the meibomian glands but may also occur anywhere else, including the face, ears, and external genitalia.…”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…However, a higher proportion of sebaceous neoplasms on Fig. 3 The photomicrograph shows a fibrofolliculoma with the typical features of cords and anastomosing strands of epithelial cells lying within a fibromyxoid stroma non-head and neck sites are associated with Muir-Torre syndrome [57].…”

“…4), sebaceous adenomas and other benign sebaceous tumours are markers of Muir-Torre syndrome [53,57]. Sebaceous hyperplasia has not been definitively linked with Muir-Torre syndrome [57,58].…”

“…4), sebaceous adenomas and other benign sebaceous tumours are markers of Muir-Torre syndrome [53,57]. Sebaceous hyperplasia has not been definitively linked with Muir-Torre syndrome [57,58]. Occasional sebaceous gland hyperplasias have been reported associated with internal malignancy, likely reflecting the underlying frequency of this diagnosis within the general population [58].…”

A jéghegy csúcsa: multiplex faggyúmirigy-eredetű bőrtumor coloncarcinomában. Muir–Torre-szindróma

“…Jelenleg úgy tartják, hogy a sebaceus carcinoma biológiai viselkedése és prognózisa nem függ a megjelenés helyétől [20]. A törzs vagy a vég-tagok faggyúmirigy-eredetű daganatainál azonban nagyobb arányban találtak MMR-defi cientiát, mint a fejnyak régióban [23]. MTS-ben gyakoribb extraokuláris manifesztációt és multiplex megjelenést fi gyeltek meg [9].…”