Muir-Torre Syndrome

Bhaijee, Feriyl; Brown, Alexandra S.

doi:10.5858/arpa.2013-0301-rs

Cited by 47 publications

(39 citation statements)

References 33 publications

(29 reference statements)

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“…Additionally, as in other studies, the majority of our patients with MT‐LS were male (75%). Regarding tumour location, the literature indicates that tumours not associated with MT‐LS SN have a predilection for areas with abundant sebaceous glands such as the nose and eyelids, whereas in MT‐LS they are more frequently seen below the neck . In line with this, patients with MT‐LS in our study also developed SN more frequently on extrafacial locations compared with patients without MT‐LS, although this difference was not significant.…”

Section: Discussionsupporting

confidence: 81%

Cutaneous sebaceous tumours and Lynch syndrome: long‐term follow‐up of 60 patients

Marcoval¹,

Talavera-Belmonte²,

Fornons-Servent³

et al. 2018

Clin Exp Dermatol

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Background. Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN. Aim. To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. Methods. Patients with SN diagnosed between 1995 and 2015 were enrolled in the study. The diagnosis of MT-LS was made according to established clinical criteria and, whenever possible, was confirmed by germline mutation analysis. Results. In 60 patients (32 men, 28 women, mean age 69.22 years), 96 SN were diagnosed: 65 adenomas (67.7%), 16 sebaceomas (16.7%) and 15 carcinomas (15.6%). Of the 60 patients, 50 (83.3%) had a single SN and 10 (16.7%) had multiple lesions. Patients diagnosed with MT-LS (12 patients, 20%) were younger (63.25 years vs. 70.71 years), and had a higher incidence of extrafacial SN (4/12 patients, 33.3%), and were significantly (P < 0.001) more likely to have multiple SNs (8/12, 75%) and keratoacanthomas (KAs) (6/12, 50%). Conclusion. Our study confirms that all patients with SN should be investigated, as 20% of our patients were diagnosed with MT-LS. The most specific features of SN associated with MT-LS in our study were the presence of multiple lesions and association with KAs.

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Section: Discussionsupporting

confidence: 81%

Cutaneous sebaceous tumours and Lynch syndrome: long‐term follow‐up of 60 patients

Marcoval¹,

Talavera-Belmonte²,

Fornons-Servent³

et al. 2018

Clin Exp Dermatol

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“…Germline mutations in patients with MTS most commonly affect MSH−2 (>90%), followed by MLH−1 (<10%) (2). As a result, MTS is considered a phenotypic variant of Lynch syndrome, which also exhibits defects in MMR genes (3). In this case, the patient had a positive family history of cancers; while the cancers are not all Lynch-associated cancers, it is important to obtain a family history given the high degree of penetrance of this autosomal dominant condition.…”

Section: Discussionmentioning

confidence: 99%

Muir-Torre Syndrome: the implications of sebaceous neoplasms

Mx¹

2017

cderm

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“…Previously, the use of MMRP‐IHC: 4‐antibody panel (MSH2, MLH1, MSH6, and PMS2) and 2‐antibody panel (MSH2 and MLH1), in the screening for MTS was explored in eight clinical scenarios (Table ), which represent common situations encountered in clinical practice . Each scenario was accompanied by a set of definitions and independently reviewed for completeness by dermatopathologists with expertise in the area and modified accordingly (Table ). Evidence on the use of MMRP‐IHC was compiled (search years 2000 to 2016), provided to panel raters and is published in the Journal of Cutaneous Pathology .…”

Section: Methodsmentioning

confidence: 99%

Muir‐Torre syndrome appropriate use criteria: Effect of patient age on appropriate use scores

et al. 2019

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Background Muir‐Torre syndrome (MTS) is a rare inherited syndrome, with an increased risk of sebaceous and visceral malignancy. Prior reports suggest screening for mismatch repair (MMR) deficiency may be warranted in patients <50 years and when sebaceous neoplasms are located on a non‐head and neck location. Previously, appropriate use criteria (AUC) were developed for clinical scenarios in patients >60 years concerning the use of MMR protein immunohistochemistry (MMRP‐IHC). This analysis explores the appropriateness of testing in patients ≤60 years. Methods Panel raters from the AUC Task Force rated the use of MMRP‐IHC testing for MTS for previously rated scenarios with the only difference being age. Results Results verify the previously developed AUC for the use of MMRP‐IHC in neoplasms associated with MTS in patients >60 years. Results also show that in patients ≤60 years with a single sebaceous tumor on a non‐head and neck site, MMRP‐IHC testing should be considered. Testing can also be considered with a 2‐antibody panel on periocular sebaceous carcinoma in younger patients. Conclusions Our findings align with known evidence supporting the need to incorporate clinical parameters in identifying patients at risk for MTS, with age being a factor when considering MMRP‐IHC testing.

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Muir-Torre Syndrome

Cited by 47 publications

References 33 publications

Cutaneous sebaceous tumours and Lynch syndrome: long‐term follow‐up of 60 patients

Cutaneous sebaceous tumours and Lynch syndrome: long‐term follow‐up of 60 patients

Muir-Torre Syndrome: the implications of sebaceous neoplasms

Muir‐Torre syndrome appropriate use criteria: Effect of patient age on appropriate use scores

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