Sebaceous “adenoma” of an arm recurring as a carcinoma: The value of DNA mismatch repair gene expression immunohistochemistry

Saal, Ryan; Borda, Luis J.; Pariser, Robert J.

doi:10.1016/j.jdcr.2022.10.002

Cited by 2 publications

(2 citation statements)

References 8 publications

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“…These tumors may mimic other benign and malignant cutaneous lesions that may lead to delayed or inadequate treatment. Most cases occur sporadically; however, a subset of these tumors is recently described as a part of Lynch syndrome (LS), referred to as hereditary non‐polyposis colon cancer and previously known as Muir–Torre syndrome (MTS) 4,5 . A loss of expression of DNA mismatch repair (MMR) genes is implicated in the pathogenesis of MTS 6 …”

Section: Introductionmentioning

confidence: 99%

“…Most cases occur sporadically; however, a subset of these tumors is recently described as a part of Lynch syndrome (LS), referred to as hereditary non-polyposis colon cancer and previously known as Muir-Torre syndrome (MTS). 4,5 A loss of expression of DNA mismatch repair (MMR) genes is implicated in the pathogenesis of MTS. 6 The hallmark of MTS is the association between sebaceous neoplasms (SNs) and visceral malignancies.…”

Section: Introductionmentioning

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: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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Challenges in the diagnosis and treatment of the malignant adnexal neoplasms of the head and neck

Wierzbicka

Kraiński

Bartochowska

2023

Current Opinion in Otolaryngology &Amp; Head &Amp; Neck Surgery

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Purpose of reviewThe current review is to present the current knowledge regarding epidemiology, diagnostics, and management of malignant adnexal neoplasms (MANs).Recent findingsImmunotherapy and gene-related therapies are still being developed as the methods of salvage treatment in advanced and disseminated cases: CACNA1S, ATP2A1, RYR1, and MYLK3, as well as p53 or the JAK/STAT pathways, may be therapeutic targets; the efficiency of talimogene laherparepvec and nivolumab is assessed.SummaryMANs are rare tumors, but due to the aging of population their incidence is increasing. Their clinical presentation is unspecific, which makes the diagnosis challenging. Histopathological assessment is difficult even for experienced pathologists. Mohs micrographic surgery or wide local excision are recommended to treat primary lesions. Adjuvant radiotherapy may be beneficial in case of insufficient or positive surgical margins, in nodal metastases, in selected types of MANs like sebaceous, trichilemmal, and pilomatrix carcinomas, and as the induction treatment in large tumors located in medically fragile or cosmetically important regions. The role of chemotherapy is not well defined; however, it is recommended in distant metastases. Immunotherapy can improve the prognosis in advanced stage of the disease.

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Sebaceous “adenoma” of an arm recurring as a carcinoma: The value of DNA mismatch repair gene expression immunohistochemistry

Cited by 2 publications

References 8 publications

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

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

Challenges in the diagnosis and treatment of the malignant adnexal neoplasms of the head and neck

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