Sebaceous neoplasia and the Muir–Torre syndrome: important connections with clinical implications

Shalin, Sara C.; Lyle, Stephen; Calonje, Eduardo; Lazar, Alexander J.

doi:10.1111/j.1365-2559.2009.03454.x

Cited by 120 publications

(101 citation statements)

References 105 publications

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“…4), sebaceous adenomas and other benign sebaceous tumours are markers of Muir-Torre syndrome [53,57]. Sebaceous hyperplasia has not been definitively linked with Muir-Torre syndrome [57,58]. Occasional sebaceous gland hyperplasias have been reported associated with internal malignancy, likely reflecting the underlying frequency of this diagnosis within the general population [58].…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Sebaceous hyperplasia has not been definitively linked with Muir-Torre syndrome [57,58]. Occasional sebaceous gland hyperplasias have been reported associated with internal malignancy, likely reflecting the underlying frequency of this diagnosis within the general population [58]. The majority of sebaceous neoplasms occur on the head and neck, specifically the face and peri-ocular region.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…The diagnosis of a sebaceous neoplasm should prompt assessment for mismatch repair gene mutation [58]. In the first instance, immunohistochemistry can be performed on the tumour biopsy to determine if production of mismatch repair proteins has been lost, but the genetic analysis should still be undertaken.…”

Section: Clinical Featuresmentioning

confidence: 99%

See 2 more Smart Citations

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

Kennedy

Thavaraj

Díaz‐Cano

2017

Head and Neck Pathol

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Section: Clinical Featuresmentioning

confidence: 99%

Section: Clinical Featuresmentioning

confidence: 99%

See 1 more Smart Citation

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

Kennedy

Thavaraj

Díaz‐Cano

2017

Head and Neck Pathol

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“…A mismatch-repair fehérjék működésének sematikus ábrája [30] 6. ábra Muir-Torre-szindrómában előforduló belszervi daganatok megoszlása [1,8,24] polyposus vastagbélrákban (HNPCC) mutattak ki, így utóbbinak egyik szubtípusaként is említhetjük (annak 1-3%-a) [8,9]. Míg Lynch-szindrómában az MLH-1 és az MSH-2 gének nagyjából egyenlő arányban érintettek (körülbelül 50% vs. 40%), addig MTS-ben jelentős MSH-2-dominancia fi gyelhető meg (körülbelül 90%) [10,11].…”

Section: áBraunclassified

“…A törzs vagy a vég-tagok faggyúmirigy-eredetű daganatainál azonban nagyobb arányban találtak MMR-defi cientiát, mint a fejnyak régióban [23]. MTS-ben gyakoribb extraokuláris manifesztációt és multiplex megjelenést fi gyeltek meg [9].…”

Section: áBraunclassified

A jéghegy csúcsa: multiplex faggyúmirigy-eredetű bőrtumor coloncarcinomában. Muir–Torre-szindróma

et al. 2015

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A Muir-Torre-szindróma ritka, autoszomális domináns öröklődésű genodermatosis. A tünetegyüttes az örökletes nem polyposus vastagbélrák (vagy Lynch-szindróma) alfajának tekinthető. A kórkép hátterében az esetek kétharma-dában a mismatch-repair gének -leggyakrabban MutS Homolog-2 és MutL Homolog-1 -örökletes mutációja áll. A diagnózis felállításához legalább egy faggyúmirigy-eredetű bőrtumor (sebaceoma, sebaceus adenoma, epithelioma, carcinoma vagy bazálsejtes carcinoma sebaceus differenciációval) és/vagy keratoacanthoma, valamint legalább egy belszervi daganat (többnyire jobb kolonfélre lokalizált carcinoma) jelenléte szükséges. A szerzők egy 52 éves férfi kórtörténetét mutatják be, akinek hátán halmozottan jelentkeztek sebaceus carcinomák. Immunhisztokémiai vizsgá-latok alapján a daganatsejtek nem expresszáltak MutL Homolog-1 proteint. Részletes daganatkutatás eredményekép-pen coecumtáji malignus folyamatra derült fény. Jobb oldali hemicolectomiát követő hisztopatológiai feldolgozás MutL Homolog-1 és postmeiotic segregation increased-2 defektussal rendelkező, közepesen differenciált adenocarcinomát igazolt. A faggyúmirigy-eredetű tumor felismerésével, korszerű diagnosztikai módszerek alkalmazásával a vastagbélrák korai stádiumban felfedezve kezelhetővé vált. Orv. Hetil., 2015, 156(24), 979-984.Kulcsszavak: Muir-Torre-szindróma, faggyúmirigy-daganat, örökletes nem polyposus vastagbélrákThe tip of the iceberg: multiple cutaneous sebaceous tumor in colon cancer. Muir-Torre syndrome -Case reportMuir-Torre syndrome is a rare genodermatosis with autosomal dominant inheritance. The syndrome is considered to be a subtype of the hereditary nonpolyposis colorectal cancer (or Lynch-syndrome). In two-third of the cases, it develops as the consequence of germline mutations in mismatch-repair genes -most commonly MutS Homolog-2 and MutL Homolog-1. Its diagnosis can be established if at least one sebaceous tumor (sebaceoma, sebaceous adenoma, epithelioma, carcinoma or basal-cell carcinoma with sebaceous differentiation) and/or keratoacanthoma and at least one internal neoplasm are present. Here the authors present the history of a 52-year-old man with multiple sebaceous carcinomas on his back. Immunohistochemical analysis showed the lack of MutL Homolog-1 protein expression in the tumor cells. Detailed clinical workup in order to identify internal malignancy found malignant coecum tumor. Histopathological evaluation of the sample from the right hemicolectomy revealed mid-grade adenocarcinoma with MutL Homolog-1 and postmeiotic segregation increased-2 defi ciency. The detection of the cutaneous sebaceous carcinoma and the application of the modern diagnostic methods resulted in identifi cation of the associated colorectal cancer in an early stage; hence, defi nitive treatment was available for the patient.

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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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Sebaceous neoplasia and the Muir–Torre syndrome: important connections with clinical implications

Cited by 120 publications

References 105 publications

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

A jéghegy csúcsa: multiplex faggyúmirigy-eredetű bőrtumor coloncarcinomában. Muir–Torre-szindróma

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

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