Sebaceous neoplasms with mismatch repair protein expressions and the frequency of co-existing visceral tumors

Lee, Bonnie A; Yu, Limin; Ma, Linglei; Lind, Anne C.; Lu, Dongsi

doi:10.1016/j.jaad.2012.03.020

Cited by 26 publications

(27 citation statements)

References 20 publications

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“…22,26,27 In a study of 41 sebaceous gland neoplasms, Chhibber et al 28 reported positive predictive values of MLH1, MSH2, and MSH6 of 88%, 55%, and 67%, respectively. Only 2 combinations achieved a positive predictive value of 100%: MLH1 þ MSH2 and MLH1 þ MSH2 þ MSH6.…”

Section: Pathologic Featuresmentioning

confidence: 99%

Muir-Torre Syndrome

Bhaijee

Brown

2014

Archives of Pathology &Amp; Laboratory Medicine

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Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability. Pathologists have an important role in the early detection and initial diagnosis of MTS: identification of at-risk individuals allows appropriate screening and surveillance for visceral malignancies, thereby reducing morbidity and mortality. Herein, we describe the clinicopathologic features of MTS.

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Section: Pathologic Featuresmentioning

confidence: 99%

Muir-Torre Syndrome

Bhaijee

Brown

2014

Archives of Pathology &Amp; Laboratory Medicine

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“…Though mismatch-repair (MMR)-protein proficiency does not exclude MTS [4,5], the immunohistochemistry (IHC) analysis of MMR-proteins remains an approach to be considered in the workup of sebocytic lesions. The prevalence of MMR-protein deficiency among neoplasms with sebocytic differentiation as a group has been addressed in several unselected series [4][5][6][7][8][9][10], the reported values ranging from roughly 25% to 80%.…”

Section: Introductionmentioning

confidence: 99%

“…The prevalence of MMR-protein deficiency among neoplasms with sebocytic differentiation as a group has been addressed in several unselected series [4][5][6][7][8][9][10], the reported values ranging from roughly 25% to 80%. Additionally, in a series of 25 patients with sebaceous neoplasms, examined for microsatellite instability (MSI), 60% were found to be MSI-high (MSI-H) [11].…”

Section: Introductionmentioning

confidence: 99%

“…Additionally, in a series of 25 patients with sebaceous neoplasms, examined for microsatellite instability (MSI), 60% were found to be MSI-high (MSI-H) [11]. Some MMR-protein IHC studies of sebaceous neoplasms were based on MLH1-and MSH2 status only [6,[12][13][14][15], others added MSH6 to the staining panel [4,[7][8][9][10]16], and some of these communications additionally report the PMS2-protein status [4,5,[7][8][9][10]17].…”

Section: Introductionmentioning

confidence: 99%

“…The interpretation of the MMR-protein immunostainings of the sebaceous neoplasms has by some investigators been reported as straight forward [9], whereas others experienced equivocal and/or weak expression, especially with MSH6 [4,5,8,15]. For this reason, the implementation of a 2-panel approach, confined to MSH6 and PMS2, previously addressed [8] as a cost-effective alternative in screening for MMR-protein deficiency among sebaceous neoplasms, might prove problematic.…”

Section: Introductionmentioning

confidence: 99%

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