Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations

Ponti, Giovanni; Leòn, Maurizio Ponz de; Maffei, Stefania; Pedroni, Monica; Losi, Lorena; Gregorio, Carmela Di; Gismondi, Viviana; Scarselli, A; Benatti, Piero; Roncari, Barbara; Seidenari, Stefania; Pellacani, Giovanni; Varotti, C; Prete, E.; Varesco, Liliana; Roncucci, Luca

doi:10.1111/j.1399-0004.2005.00519.x

Cited by 74 publications

(51 citation statements)

References 31 publications

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“…12,16 Thyroid cancer occurred in 2 patients 31 (own study), the histology was different (papillary and follicular carcinoma, respectively). Recently, 2 affected siblings with multiple pilomatricomas 32 and a patient with multiple seba- ceous adenomas on the forehead and neck 31 were described, indicating some kind of phenotype variability. In another study, breast cancer has been diagnosed in 4 (18%) of 22 female MAP patients (age at diagnosis of breast cancer 49-76 years).…”

Section: Frequency and Phenotype Of Mapmentioning

confidence: 99%

MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

Aretz

Uhlhaas

Goergens

et al. 2006

Intl Journal of Cancer

186

130

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To determine the frequency, mutation spectrum and phenotype of the recently described autosomal recessive MUTYH-associated polyposis (MAP), we performed a systematic search for MUTYH (MYH) mutations by sequencing the complete coding region of the gene in 329 unselected APC mutation-negative index patients with the clinical diagnosis of familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). Biallelic germline mutations in MUTYH were identified in 55 of the 329 unselected patients (17%) and in another 9 selected index cases. About one-fifth (20%) of the 64 unrelated MAP patients harboured none of the 2 hot-spot missense mutations Y165C and/or G382D. Including 7 affected relatives, almost all MAP patients presented with either an attenuated (80%) or with an atypical phenotype (18%). Fifty percentage of the MAP patients had colorectal cancer at diagnosis. Duodenal polyposis was found in 18%, thyroid and stomach cancer in 1 case, other extraintestinal manifestations associated with FAP were not observed. In 8 families, vertical segregation was suspected; in 2 of these families, biallelic mutations were identified in 2 generations. Monoallelic changes with predicted functional relevance were found in 0.9% of the 329 patients, which is in accordance with the carrier frequency in the general population. In conclusion, biallelic MUTYH mutations are the underlying genetic basis in a substantial fraction of patients with adenomatous polyposis. The phenotype of MAP is best characterised as attenuated or atypical, respectively. Colorectal surveillance starting at about 18 years of age is recommended for biallelic mutation carriers and siblings of MAP patients, who refuse predictive testing. ' 2006 Wiley-Liss, Inc.

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Section: Frequency and Phenotype Of Mapmentioning

confidence: 99%

MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

Aretz

Uhlhaas

Goergens

et al. 2006

Intl Journal of Cancer

186

130

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“…A recent report describes the presence of sebaceous gland tumors in several individuals positive for germline MYH mutations. 20 Our analysis indicated that neither the proband nor his clinically affected family members carried the common germline MYH mutations. Furthermore, given the segregation of a complex germline MSH2 mutation in this family and the presence of a subset of MSI-H tumors, it is not likely that their colorectal tumors belong to the MMRproficient Muir-Torre category.…”

Section: Discussionmentioning

confidence: 75%

“…The base excision repair gene MYH has been proposed to be a likely candidate gene that is mutated in these families. 19,20 Biallelic inactivation of MYH can lead to an autosomal recessive form of inherited colorectal cancer known as MYH associate polyposis. A recent report describes the presence of sebaceous gland tumors in several individuals positive for germline MYH mutations.…”

Section: Discussionmentioning

confidence: 99%

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

et al. 2009

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“…Tip 1 MTS'de malignite erken yaşta başlar ve ailede güçlü kanser öyküsü vardır. Hastaların %31'ini oluşturan tip 2 MTS'de ise baz eksizyon tamir geni olan MuY (MYH) mutasyonu saptanmıştır 7 . Malignite geç başlangıçlıdır ve aile hikayesi yoktur.…”

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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Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations

Cited by 74 publications

References 31 publications

MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

MUTYH‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

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

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