The role of immunohistochemistry in the Muir-Torre Syndrome

Oliveira, Cláudia Marina Puga Barbosa; Campos, Jullyene Gomes de; Maia, Maiko Ramacos; Lobo, Larissa Eva dos Santos; Valle, Fabio Francesconi do

doi:10.1590/abd1806-4841.20153406

Cited by 2 publications

(2 citation statements)

References 10 publications

(17 reference statements)

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“…These results suggest that screening for visceral malignancy, especially for the GI tract cancers, may be beneficial for patients with sebaceous neoplasms. Based on our results, we cautiously recommend immunohistochemistry for MMR gene products 8,11 , and additionally, esophagogastroduodenoscopy or colonoscopy could be recommended for the patients with sebaceous neoplasms 12 . Considering that sebaceous neoplasms are visible lesions which can be easily diagnosed with skin biopsy, it would be efficient if this process contribute to finding visceral malignancies.…”

Section: Discussionmentioning

confidence: 93%

Clinical Features and Association with Visceral Malignancy in 80 Patients with Sebaceous Neoplasms

Kim

Chung

et al. 2019

Ann Dermatol

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Background: Sebaceous neoplasm is a rare subgroup of appendageal tumors that differentiate towards sebaceous adnexal structures of the skin and are known to be associated with visceral malignancy. Objective: We aimed to analyze and compare the clinical data including the past history of associated visceral malignancy in patients with sebaceous carcinoma (SC) and benign sebaceous neoplasms (BSN), such as sebaceous adenomas and sebaceomas. Methods: We retrospectively reviewed the cases of consecutive patients diagnosed with sebaceous neoplasms. Basic demographic data, past medical history, and clinical data regarding the size, location, and presence of associated visceral malignancies were evaluated. Results: A total of 80 patients of sebaceous neoplasms (51 SC, 29 BSN) were included. A total of 18 associated visceral malignancies were found in 14 patients (8 SC, 6 BSN). Two patients were diagnosed with subsequent visceral malignancies during the primary work-up process for sebaceous neoplasms. The mean age at diagnosis of the visceral malignancies was 63.9 and 47.5 years for patients with SC and BSN, respectively. The most common site of visceral malignancies was the gastrointestinal (GI) tract. Adenocarcinoma was the most common histologic type of the visceral malignancy noted. Conclusion: We observed associated visceral malignancies in 15.7% of patients with SC and 20.7% with BSN. Our results suggest a need for screening of visceral malignancies, especially of the GI tract, in patients with sebaceous neoplasms. (Ann Dermatol 31(1) 14∼21, 2019

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Section: Discussionmentioning

confidence: 93%

Clinical Features and Association with Visceral Malignancy in 80 Patients with Sebaceous Neoplasms

Kim

Chung

et al. 2019

Ann Dermatol

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“…A detailed family history including direct questioning regarding visceral malignancies and review of systems should be initiated, with clinical investigation and referral as appropriate. Various screening guidelines for MTS patients have comprised colonoscopy every 3–5 years, cystoscopy and intravenous pyelogram at regular intervals, yearly mammogram and endometrial biopsy every 3–5 years in women over 50 years of age . These interventions should also extend to the screening of family members as applicable.…”

Section: Discussionmentioning

confidence: 99%

Multiple benign adnexal tumours: Anything but benign

2019

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Muir Torre syndrome is an autosomal dominant disorder characterised by germline mutations in mismatch repair genes involved in DNA repair, leading to microsatellite instability and a propensity to tumour formation. We report a case of a 67-year-old gentleman who underwent biopsy of a smooth nodular lesion on the nasal tip, histopathologically consistent with sebaceous adenoma. Immunohistochemistry suggested a loss of MSH6. Subsequent colonoscopy identified a poorly differentiated adenocarcinoma, with loss of staining for MSH6 and a germline mutation identified on genetic analysis. These findings were consistent with a diagnosis of Muir Torre syndrome. Whilst there is controversy in the literature regarding universal screening for Muir Torre syndrome, the early detection of visceral neoplasms is crucial. The authors strongly support screening for Muir Torre syndrome (with patient consent) upon discovery of a cutaneous sebaceous neoplasm, even in the absence of a personal or family history of visceral malignancy.

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The role of immunohistochemistry in the Muir-Torre Syndrome

Cited by 2 publications

References 10 publications

Clinical Features and Association with Visceral Malignancy in 80 Patients with Sebaceous Neoplasms

Clinical Features and Association with Visceral Malignancy in 80 Patients with Sebaceous Neoplasms

Multiple benign adnexal tumours: Anything but benign

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