Muir-Torre Syndrome: The Importance of a Detailed Family History

Burris, Christopher K.H.; Rodríguez, Maria E.; Raven, Meisha L.; Reddy, Devasis N; Xu, Yaohui; Wiggs, Janey L.; Potter, Heather D.; Albert, Daniel M.

doi:10.1159/000500662

Cited by 6 publications

(3 citation statements)

References 18 publications

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“…She also had several visceral cancers -endocervical adenocarcinoma, followed by a vulvar squamous cell carcinoma, which also metastasized into the pelvic and inguinal lymph nodes, and finally the urothelial cell carcinoma of the bladder; genitourinary cancers are present in 25% of Muir Torre syndrome cases (12)(13)(14)(15). Also, the strong family history further reinforces this diagnosis, with multiple relatives across at least four generations affected by different malignancies, including first degree relatives (16). Guided by the Amsterdam criteria for genetic testing in the case of suspected HNPCC syndrome (10), we decided to perform an extensive germline testing of both the patient and the first degree descendants.…”

Section: Discussionmentioning

confidence: 88%

Muir-Torre Syndrome: a Long Way to Diagnosis

Turcas¹,

Fetică²,

Nagy³

2023

JMRO

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"Muir-Torre syndrome, a subtype of Lynch syndrome, is a rare genetic disorder. We present the case of a female patient with a long family and personal history who was diagnosed with numerous benign and malignant tumours of various histology, including some with sebaceous features, beginning at the age of 41. The majority were cutaneous tumours, treated with complete resection, but they frequently recurred. Visceral cancers included endocervical adenocarcinoma, vulvar squamous-cell carcinoma and urothelial carcinoma, treated surgically, followed by systemic oncological treatments and external beam radiotherapy. Following a 20-year evolution, extensive genetic blood testing revealed a pathogenic variant in the MSH2 gene, c.1861C>T (p.Arg621*), in heterozygous state. In light of this unusual clinical presentation and molecular profile, the patient was finally diagnosed with Muir-Torre syndrome. The prognosis was poor, with an inoperable recurrence of the urothelial carcinoma and extensive lymph node dissemination of a vulvar squamous cell carcinoma."

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Section: Discussionmentioning

confidence: 88%

Muir-Torre Syndrome: a Long Way to Diagnosis

Turcas¹,

Fetică²,

Nagy³

2023

JMRO

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“…A case report by Burris et al reported a man with skin tags, a familiar history of different types of cancer, and an IHC with no functional MSH2 and MSH6, confirming the presence of MTS. In that article, the authors highlight the importance of taking into account detailed medical history of the patient and describe that their patient had a history of remotion of fatty tumors when he was a child [ 12 ]. For this reason, we considered lipomas to be an important part of our patient´s medical history, and suspect that the manifestation of lipomas could be associated with MTS.…”

Section: Discussionmentioning

confidence: 99%

A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas

Giannoni¹,

Sevic

Parenti³

et al. 2023

Clinics and Practice

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Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (MMR) genes, which result in microsatellite instability. Early detection of the mutation can help evaluate the cancer risk and, consequently, a proper course of clinical management for the person harboring the mutation. Herein, we describe the first report of a c.1458dup (p.Glu487*) new mutation in a 53-year-old colorectal cancer patient with diagnosed Lynch syndrome. Additionally, the existence of lipomas in this patient and his family could be related to this syndrome. Further investigation may provide a possible visual clue that can indicate a need for genetic screening.

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“…We showed which concomitant mutations may arise in these tumors, providing options for targeted therapy in advanced sebaceous tumors. With only few case reports in the literature, we furthermore examined the family histories of the affected patients, to highlight the importance of a precise medical history for a presumptive diagnosis of MTS in patients with sebaceous tumors [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome

Simic

Dummer

Freiberger

et al. 2021

Genes

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Background: We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes. Methods: This retrospective single-center case series included seven patients with the diagnosis of Muir-Torre Syndrome with precise medical history and family history. Mutational analysis of tumor samples Formalin-fixed paraffin-embedded tissue blocks of skin lesions associated with Muir-Torre Syndrome were used for further analysis. All skin tumors were analyzed with the Oncomine Comprehensive Assay v3 (Life Technologies), which includes 161 of the most relevant cancer driver genes. Results: Eleven skin neoplasms (nine sebaceous tumors, one melanoma, one cutaneous squamous cell carcinoma) were diagnosed in seven patients. In two patients, visceral malignancies preceded the diagnosis of the skin tumors and one patient was diagnosed with a visceral malignancy after a sebaceous tumor. History of familial cancer of Lynch Syndrome (LS) was reported in three patients. The most frequently detected mutation was in the MSH2 gene, followed by mutations in the NOTCH1/2 and TP53 gene. Conclusion, this study provides a molecular analysis of Muir-Torre Syndrome associated and non-associated skin tumors in patients with Muir-Torre Syndrome. Patients with sebaceous lesions should undergo microsatellite instability analysis and accurate evaluation of personal and family history to detect a possible Muir-Torre syndrome. As secondary malignancies may appear years after the first occurrence of sebaceous tumors, lifelong screening is mandatory.

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Muir-Torre Syndrome: The Importance of a Detailed Family History

Cited by 6 publications

References 18 publications

Muir-Torre Syndrome: a Long Way to Diagnosis

Muir-Torre Syndrome: a Long Way to Diagnosis

A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome

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