A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndrome

Sebaceous adenomas of the eyelid and Muir-Torre Syndrome

“…First, it is estimated that over a third of patients with clinically defined MTS may not display microsatellite instability, and hence would not exhibit any immunostaining abnormalities for MLH1 or MSH2 17–19. Second, immunostaining for MLH1 and MSH2 is prone to false-positive results in certain subsets of patients, such as immunosuppressed patients 19. This decreases the predictive value of this strategy for detecting MTS.…”

New facial papules in a 66-year-old woman with bladder cancer

“…4 Patients presenting with two or more sebaceous neoplasms have a high likelihood of MTS. 16 A single sebaceous neoplasm in a person under 60 years with a personal or family history of Lynch-related cancer (colorectal, endometrial, ovarian, small bowel, urothelial, biliary tract) also confers a high likelihood of MTS. 16 Sebaceous hyperplasia is a frequent finding in MTS but is of less diagnostic value due to its high frequency in the general population.…”

“…7 A clinical scoring system for patients with sebaceous neoplasms has recently been proposed and includes: the number of sebaceous tumors, age at diagnosis, and personal and family history of Lynch-related cancers. 16 Diagnostic screening guidelines generally include colonoscopy every 1–2 years beginning at age 25, annual hemeoccult, and annual pelvic exam with Pap test and vaginal ultrasound or endometrial biopsy. 17–20 …”

“…Mutations in tumor specimens may differ from mutations found by germline testing. 16 Germline testing provides the opportunity for genetic counseling of family members and avoids unnecessary screening procedures in those unaffected. Given the cost of genetic testing and similar screening guidelines for individuals with a known mutation and those at risk without a confirmed mutation, directly proceeding to malignancy screening in family members is also reasonable.…”

A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability

“…Muir-Torre syndrome (MTS) is a rare, hereditary, autosomal dominant cancer syndrome that is a variant of hereditary nonpolyposis colorectal carcinoma (HNPCC) or Lynch syndrome 1 . MTS is characterized by sebaceous neoplasms and HNPCC-associated malignancies such as colorectal, endometrial, and urothelial cancers 1 .…”