A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

Hereditary Cancer in Clinical Practice
Caroline KientzMarine Lebrun

Abstract

The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess. We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39 years of age and skin squamous cell carcinoma (SCC) at 41 years of age, without personal history of colorectal cancer. The microsatellite instability analysis performed on the skin SCC showed a low-level of microsatellite instability (MSI-Low). The immunohistochemical expression analysis of the four DNA mismatch repair proteins MLH1, MSH2, MSH6 and PMS2 showed a partial loss of the expression of MSH2 and MSH6 proteins. Germline deletion was found in MSH2 gene (c.1277-? _1661 + ?del), exon 8 to 10. Then, at 45 years of age, she presented hyperplastic polyps of the colon and a sebaceous adenoma. Squamous cell carcinomas have been described in Lynch syndrome...Continue Reading

References

Nov 1, 1968·Archives of Dermatology·D Torre
Feb 19, 2004·Journal of the National Cancer Institute·Asad UmarSudhir Srivastava
Jun 3, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Albert de la Chapelle, Heather Hampel
Oct 24, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Christoph EngelHans F A Vasen
Mar 21, 2013·Breast Cancer Research : BCR·Aung Ko WinMark A Jenkins
Mar 5, 2015·Clinical Genetics·E Castellsagué, W D Foulkes
May 23, 2015·Hereditary Cancer in Clinical Practice·Steven Sorscher
Jun 24, 2015·Journal of Medical Genetics·Elaine F HarknessD Gareth Evans

❮ Previous
Next ❯

Citations

Jan 24, 2019·The Australasian Journal of Dermatology·Rose-Lynn McCarthyFrank Isaacs
Dec 19, 2018·Familial Cancer·F AdanM W Bekkenk
Sep 10, 2020·JAAD Case Reports·Ruonan ZhangDonghong Cai
Jun 3, 2021·Genes·Dario SimicMarjam-Jeanette Barysch

❮ Previous
Next ❯

Related Concepts

Related Feeds

Carcinoma, Squamous Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.

Related Papers

Revista de gastroenterología del Perú : órgano oficial de la Sociedad de Gastroenterología del Perú
María Del Carmen Castro-MujicaXimena Montenegro-Garreaud
© 2022 Meta ULC. All rights reserved