The Muir-Torre Syndrome: A Disease of Sebaceous and Colonic Neoplasms

Schwartz, R A; Goldberg, D.; Mahmood, Faisal; Dejager, R.; Lambert, W. Clark; Najem, A Z; Cohen, Philip

doi:10.1159/000248381

Cited by 42 publications

(13 citation statements)

References 17 publications

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“…1 In the 1980s, MTS was shown to arise in patients with hereditary nonpolyposis colorectal carcinoma (HNPCC), also called Lynch syndrome. 2,3 In addition to colorectal adenocarcinoma, malignancies associated with HNPCC include carcinomas of the endometrium, ovaries, stomach, renal pelvis, ureters, pancreas, biliary tract, small bowel, and glioblastomas. 4 Eventually, MTS was found to be a variant of HNPCC.…”

Section: Introductionmentioning

confidence: 99%

Mismatch Repair Protein Deficiency is Common in Sebaceous Neoplasms and Suggests the Importance of Screening for Lynch Syndrome

Plocharczyk¹,

Frankel²,

Hampel

et al. 2013

The American Journal of Dermatopathology

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The association between Lynch syndrome and sebaceous neoplasms is well characterized. The absence of expression of mismatch repair proteins (MMRPs) by immunohistochemistry (IHC) is often used in other Lynch-associated tumors to guide testing. IHC for MLH1, PMS2, MSH2, and MSH6 was performed on 36 benign and malignant sebaceous neoplasms with the absence of one or more MMRP in 38.9% of cases. Among lesions with abnormal IHC, 71.4% were missing both MSH2 and MSH6, 21.4% lacked MLH1 and PMS2, and 7.1% lacked only MSH6. Of the 10 patients with absent MMRP, 5 had gene-test confirmed Lynch syndrome, 3 had no suggestive personal or family medical history and 2 had no recorded data. Tumor-infiltrating lymphocytes in neoplasms with absent MMRP were statistically significantly greater than in those with intact MMRP (16.5 vs. 9.7, P = 0.027). MMRP deficiency is common in sebaceous neoplasms, suggesting the importance of screening for Lynch syndrome in these patients.

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Section: Introductionmentioning

confidence: 99%

Mismatch Repair Protein Deficiency is Common in Sebaceous Neoplasms and Suggests the Importance of Screening for Lynch Syndrome

Plocharczyk¹,

Frankel²,

Hampel

et al. 2013

The American Journal of Dermatopathology

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“…50,51 Criteria to define the syndrome have been proposed as concurrent or sequential diagnosis of a sebaceous neoplasm (adenoma, epithelioma, seboacanthoma, or carcinoma), and a minimum of one internal malignancy or a family history of MTS with a personal history of multiple KAs and visceral malignancies (Table I). [50][51][52][53][54][55][56][57][58][59] Sebaceous neoplasms may occur without internal malignancy, but are rare, and MTS should be considered when they are found. 52 MTS is thought to be a phenotypic variant of Lynch syndrome.…”

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confidence: 99%

Sebaceous lesions and their associated syndromes: Part II

Eisen¹,

Michael²

2009

Journal of the American Academy of Dermatology

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“…Keratoakantomlar hastaların %20'sinde görülür. Sıklıkla sebase diferansiyasyon gösterirler ve multipl olma eğilimindedirler 15,16 . Bizim olgumuzda burun yerleşimli tek sebase adenom ve burun yerleşimli tek keratoakantom mevcuttu.…”

Section: Olgu Sunumuunclassified

The reflectance confocal microscopy features of sebaceous adenoma in a case of Muir Torre syndrome

Yüksel¹,

Erdemir²,

Leblebıcı³

et al. 2015

TURKDERM

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Muir-Torre syndrome (MTS) is a rare genodermatosis characterized by the occurrence of sebaceous gland neoplasms and/or keratoacanthomas associated with visceral malignancies. It is autosomal dominantly inherited and considered as a subtype of Lynch 2 syndrome, which is a hereditary nonpolyposis colorectal cancer syndrome. Sebaceous adenoma, sebaceoma, sebaceous carcinoma and keratoacanthoma are the most frequent associated cutaneous neoplasms. The most common visceral malignancies are colorectal and genitourinary tumors. A 47-yearold male patient was admitted to our clinic with the complaint of two lesions on the nose. Dermatological examination revealed a plaque 1 cm in diameter consisting of bright yellowish-white colored papules with slightly umbilicated appearance, and telangiectasias on the left side of the nose and a dome-shaped papule 3 mm in diameter with hyperkeratotic plug on the tip of the nose. He had a history of partial colon resection due to colon cancer and familial Lynch II syndrome. On dermoscopic examination of sebaceous adenoma, a few yellow comedo-like globules and branching arborizing vessels were detected. Reflectance confocal microscopy (RCM) revealed a good histopathologic correlation. Sebaceous lobules were composed by clusters of ovoid cells with hyporefractile dark nuclei and bright, hyperrefractile glistening cytoplasm. Numerous round to oval-shaped dark spaces corresponding to sebaceous ducts were detected. The diagnosis of MTS was established based on the personal and family history, dermoscopic, RCM and histopathologic findings. MTS evaluation is required in patients with biopsy-proven sebaceous adenoma. Early diagnosis may be lifesaving in patients with MTS. A better characterization of RCM features of sebaceous tumors will allow early diagnosis of the patients with MTS. (Turkderm 2015; 49: 70-4) Key Words: Sebaceous adenomas, Muir Torre syndrome, reflectance confocal microscopy Conflicts of Interest:The authors reported no conflict of interest related to this article.Muir Torre sendromu (MTS) sebase tümörlere ve/veya keratoakantomlara eşlik eden visseral malignitelerle karakterize, nadir görülen bir genodermatozdur. Otozomal dominant olarak kalıtılır ve Herediter nonpolipozis kolorektal kanser sendromu olan Lynch 2 sendromunun bir subtipi olarak kabul edilir. Sıklıkla eşlik eden kutanöz neoplaziler sebase adenom, sebaseoma, sebase karsinom, ve keratoakantomdur. En sık görülen internal maligniteler gastrointestinal sistem tümörleridir. Kırk yedi yaşında erkek hasta burunda iki adet kabarık yara şikayetiyle polikliniğimize başvurdu. Dermatolojik muayenesinde burun sol yanında 1 cm çapında, sarımsı-beyaz renkte parlak papüllerden oluşan, hafif umblike, üzerinde telenjiektazilerin izlendiği plak ve burun ucunda 3 mm çapında, soluk eritemli, ortasında keratotik tıkaç bulunan kubbemsi papül mevcuttu. Daha önce kolon kanseri nedeniyle parsiyel kolon rezeksiyonu yapılmış olan hastada ailesel Lynch 2 sendromu öyküsü mevcuttu. Sebase adenomun dermoskopik incelemesinde az sayıda sarı komed...

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The Muir-Torre Syndrome: A Disease of Sebaceous and Colonic Neoplasms

Cited by 42 publications

References 17 publications

Mismatch Repair Protein Deficiency is Common in Sebaceous Neoplasms and Suggests the Importance of Screening for Lynch Syndrome

Mismatch Repair Protein Deficiency is Common in Sebaceous Neoplasms and Suggests the Importance of Screening for Lynch Syndrome

Sebaceous lesions and their associated syndromes: Part II

The reflectance confocal microscopy features of sebaceous adenoma in a case of Muir Torre syndrome

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