Identification of Muir–Torre syndrome among patients with sebaceous tumors and keratoacanthomas

@article{Ponti2005IdentificationOM,
  title={Identification of Muir–Torre syndrome among patients with sebaceous tumors and keratoacanthomas},
  author={Giovanni Ponti and Lorena Losi and Carmela di Gregorio and Luca Roncucci and Monica J. Pedroni and Alessandra Scarselli and Piero Benatti and Stefania Seidenari and Giovanni Pellacani and Luigi Lembo and Giuseppina Rossi and Massimiliano Marino and Emanuela Lucci-Cordisco and Maurizio Ponz de Leon},
  journal={Cancer},
  year={2005},
  volume={103}
}
The Muir–Torre syndrome (MTS) is an autosomal‐dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies. A subset of patients with MTS is considered a variant of the hereditary nonpolyposis colorectal carcinoma, which is caused by mutations in mismatch‐repair genes. The objective of the current study was to evaluate whether a combined clinical, immunohistochemical, and biomolecular approach could be… Expand
Genodermatoses. Part I: Muir-Torre Syndrome
TLDR
The Muir-Torre syndrome is a prototype of a familial cancer syndrome, bridging the fields of hereditary dermatologic disease and oncology, with the recognition that most MTS tumors have defects in their mismatch repair (MMR) machinery. Expand
Sebaceous neoplasia and Torre-Muir syndrome.
TLDR
The diagnostic features, differential diagnosis, molecular diagnostics and recent advances in pathogenesis of this rare group of tumours are discussed along with Torre-Muir syndrome and recommendations for screening for this important association are discussed. Expand
Muir-Torre syndrome.
  • P. Mercader
  • Medicine
  • Advances in experimental medicine and biology
  • 2010
TLDR
This chapter presents a review of the principal clinical and genetic findings in this syndrome and discusses its relation with Lynch syndrome. Expand
Sebaceous gland tumors and internal malignancy in the context of Muir-Torre syndrome. A case report and review of the literature
TLDR
Recognition of the Muir-Torre syndrome in patients with sebaceous gland tumors should facilitate early detection of subsequent malignancies if the patient is entered into appropriate screening programs. Expand
Muir-Torre Syndrome: The Importance of a Detailed Family History
TLDR
A case that highlights the importance of a detailed family history of Muir-Torre syndrome is described, and there are no firm guidelines on how and when to test patients with its typical skin lesions. Expand
Sebaceous lesions and their associated syndromes: part II.
TLDR
A comprehensive algorithm on how to screen patients with sebaceous neoplasms for Muire-Torre syndrome is suggested and suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome are provided. Expand
A Case of Muir-Torre Syndrome
TLDR
A 57-year-old male patient with a history of colon cancer diagnosed at age 32 and multiple sebaceous adenomas is diagnosed with Muir-Torre syndrome, a variant of hereditary non-polyposis colorectal carcinoma syndrome, and a mutation in the MSH2 gene is identified. Expand
Glioblastoma multiforme in the Muir–Torre syndrome
TLDR
The development of a glioblastoma multiforme (GBM) in a patient with MTS is described and immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutShomolog 6 ( MSH6). Expand
Muir-Torre syndrome associated with endometrial carcinoma
TLDR
Patients with endometrial carcinoma should undergo evaluation for visceral malignancies and sebaceous skin lesions, regardless of whether or not there is a family history of colorectal cancer. Expand
Muir-Torre syndrome.
TLDR
Diagnosis of rare sebaceous lesions warrants the search for associated internal malignant diseases: the peculiarity of skin lesions and their biomolecular characterisation with microsatellite instability analysis and immunohistochemistry could be used to identify familial Muir-Torre syndrome, allowing clinicians to tailor a personalised programme to screen for skin and visceral malignant Diseases in high-risk individuals. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 43 REFERENCES
Association of Sebaceous Gland Tumors and Internal Malignancy: The Muir-Torre Syndrome
TLDR
The Muir-Torre syndrome appears to have an indolent course in many of the MTS patients; the median survival has not been reached and the median follow-up is 10+ years. Expand
A Case of Multiple Sebaceous Epithelioma: Analysis of Microsatellite Instability
TLDR
A 64‐year‐old male patient with multiple sebaceous epitheliomas with no evident internal malignancy is described, suggesting that this condition is unlikely to be due to germ‐line mutation of mismatch repair genes. Expand
Loss of mismatch repair proteins in sebaceous gland tumors
TLDR
The MMR gene expression is investigated in a variety of sebaceous gland tumors, with or without associated visceral malignancy, in patients with Muir–Torre syndrome. Expand
The Muir-Torre syndrome: a 25-year retrospect.
The Torre or Muir-Torre syndrome consists of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, and one or more low-grade visceral malignancies in the absence ofExpand
The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome.
TLDR
The coexistence of rare sebaceous neoplasia and visceral cancer in CFS supports the notion that some cases of Torre's syndrome may in fact represent the more full phenotypic expression of the gene responsible for the CFS. Expand
Microsatellite instability and immunostaining for MSH‐2 and MLH‐1 in cutaneous and internal tumors from patients with the Muir–Torre syndrome
TLDR
Muir‐Torre syndrome is characterized by the co‐existence of sebaceous gland tumors of the skin and internal malignancies and is regarded as a variant of the hereditary non‐polyposis colon cancer syndrome. Expand
Microsatellite instability in Muir-Torre syndrome.
TLDR
Patients with MIN differed from patients without MIN in several respects, the most important of which include: uniform presence and early onset of colorectal cancer (average age, 40 versus 70 years); prolonged survival following diagnosis of visceral malignancy (median survival, 32 versus 11 years); and a greater number of visceral and skin tumors. Expand
[Multiple kerato-acanthomas and visceral carcinomas: Torre's syndrome].
TLDR
This last association allows to integrate this observation to Torre's syndrome, and no return of the K. A. since the removal of the carcinomas (1970) which have not actually come out again. Expand
Widespread microsatellite instability in sebaceous tumours of patients with the Muir‐Torre syndrome
TLDR
Results show that widespread MSI is a feature of tumours in patients with MTS, and the finding of LOH at D2S119, a marker located in the vicinity of hMSH2, in sebaceous tumours of one patient indicates that this gene may have a pathogenetic role in this patient. Expand
Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities.
TLDR
Multiple solid sebaceous tumours have not been reported previously as a feature of this syndrome, and should in future alert the physician to the possible presence of multiple polyposis of the colon in affected individuals and immediate relatives. Expand
...
1
2
3
4
5
...