Muir–Torre Syndrome: A Cutaneous Finding Amidst Broader Malignancies

Shah, Rohan; Allman, Priscilla; Schwartz, Robert A.

doi:10.1007/s40257-023-00757-9

Cited by 1 publication

(2 citation statements)

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“…Individuals with this genetic alteration exhibit a constitutional inactivation of MMR proteins by hypermethylation that typically represents most of the cases 17 . Increased susceptibility for SAs, sebaceous carcinomas, and keratoacanthomas, in addition to visceral malignancies, is frequently described in the reported literature of MTS 18,19 . Among visceral tumors, colorectal cancer is the most commonly encountered tumor, with a prevalence of 0.5%–5% 15 .…”

Section: Discussionmentioning

confidence: 99%

“…17 Increased susceptibility for SAs, sebaceous carcinomas, and keratoacanthomas, in addition to visceral malignancies, is frequently described in the reported literature of MTS. 18,19 Among visceral tumors, colorectal cancer is the most commonly encountered tumor, with a prevalence of 0.5%-5%. 15 Other types of malignancies that are frequently encountered with association with MTS include endometrial carcinoma, gastric cancer, small bowel tumors, transitional cell carcinoma of the ureter and renal pelvis, and ovarian and pancreatic tumors.…”

Section: Case Presentationmentioning

confidence: 99%

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Muir–Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations

Shaker,

Abid

et al. 2023

Journal of Surgical Oncology

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BackgroundMuir–Torre syndrome (MTS) is a rare genetic disorder that is caused by mismatch repair (MMR) protein mutations. MTS increases the risk of developing skin and gastrointestinal tumors such as sebaceous adenomas (SAs), sebaceous carcinomas, colorectal cancer, endometrial cancer, and ovarian cancer. The risk of developing these types of tumors varies depending on the involved mutation and the individual's family history risk.Case PresentationA 47‐year‐old male presented with multiple skin lesions on the scalp, face, flank, and back. The examination revealed well‐circumscribed, dome‐shaped papules with a yellowish appearance with white oily material in the center. Histopathologic examination showed a well‐circumscribed sebaceous neoplasm consistent with a mixture of basaloid cells and lobules of bland‐appearing mature adipocytes that communicate directly to the surface epithelium. Focal cystic changes and peritumoral lymphocytic infiltrate were noted. Increased mitotic figures were seen in the basaloid cell component. The overall findings were consistent with the diagnosis of SAs. MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression. A screening colonoscopy showed numerous colon and rectal tumors, prompting concerns about the likelihood of MTS. Surgical intervention was pursued for complete resection. Histology revealed a diagnosis of mucinous adenocarcinoma/adenocarcinoma with mucinous features of the colon. The diagnosis of MTS was supported by molecular testing that revealed MSH2 germline mutation. The increased likelihood of MTS was attributed to the occurrence of SAs in unusual locations of the head and neck regions, unlike typical cases.ConclusionMTS is a rare clinical condition that necessitates prompt thorough evaluation and periodic surveillance. When SA is encountered in atypical locations, it is important to consider additional testing supported by immunohistochemical staining, molecular testing, and regular screening to exclude the likelihood of MTS.

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Section: Discussionmentioning

confidence: 99%