Muir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report

• Published in: BMC nephrology 2019-10, Vol.20 (1), p.394-394, Article 394
• Main Authors: Tomonari, Masahiro, Shimada, Mariko, Nakada, Yasuyuki, Yamamoto, Izumi, Itoh, Munenari, Koike, Yusuke, Kobayashi, Akimitsu, Miki, Jun, Yamada, Hiroki, Kimura, Takahiro, Saito, Shinya, Sugano, Kokichi, Sekine, Shigeki, Yamamoto, Hiroyasu, Asahina, Akihiko, Yokoo, Takashi
• Format: Article
• Language: English
• Subjects: Carcinoma; Case Report; Colon cancer; Colorectal cancer; Demographic aspects; Development and progression; Diagnosis; DNA; DNA sequencing; Everolimus; Gene mutation; Genes; Genetic aspects; Genetic research; Immunosuppressive agents; Kidney transplant recipient; Kidney transplantation; Microsatellite instability; Mismatch repair gene; Muir-Torre syndrome; Organ transplant recipients; Organ transplantation; Patient outcomes; Physicians; Proteins; Risk factors; Sebaceous carcinoma; Skin; Skin cancer; Tumors
• ISSN: 1471-2369; 1471-2369
• DOI: 10.1186/s12882-019-1592-7

Sebaceous carcinoma is a rare but progressive malignant skin cancer, and the incidence is approximately five times higher in post-transplant patients than in people who have not received kidney transplants. Sebaceous carcinoma is sometimes found concurrently with visceral cancers and a genetic abnormality, Muir-Torre syndrome. We report the case of a female kidney transplant recipient with sebaceous carcinoma concurrent with colon cancer 10 years after transplantation. A 43-year-old woman was admitted due to a rapidly progressive tumor on her head. Histologically, the tumor was diagnosed as sebaceous carcinoma. We diagnosed her with Muir-Torre syndrome based on the following evidence: 1) high prevalence of microsatellite instability in gene locus assay, 2) absence of mismatch repair proteins in the sebaceous carcinoma on immunohistochemical analysis, and 3) a genetic mutation of 1226_1227delAG in the MSH2 exon 7 in the lesion detected by DNA sequencing analysis. Several reports have shown an association between immunosuppressive agents and latent Muir-Torre syndrome progression. Therefore, the progression of colon cancer in this case originated from her genetic mutation for Muir-Torre syndrome and long-term use of immunosuppressive agents. This case report not only highlights the importance of adequate diagnosis and therapy for Muir-Torre syndrome, but also suggests the further prevention of the development of malignant tumors in kidney transplant recipients. Physicians should be mindful that sebaceous carcinoma in kidney transplant recipients is highly concurrent with Muir-Torre syndrome.