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

Abstract

BackgroundSebaceous 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.Case presentationA 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.ConclusionThis 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.

Sebaceous “adenoma” of an arm recurring as a carcinoma: The value of DNA mismatch repair gene expression immunohistochemistry

“…Previous studies have shown that sebaceous adenomas and carcinomas associated with Muir-Torre syndrome show negative staining in both compartments of the tumor. 6 , 7 , 8 This discrepancy suggests that the sebaceous neoplasms in the current case did not originate from a germline mutation, an observation which may be useful in terms of genetic counseling of affected patients.…”

Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome

“…This patient developed cancers 10 years after transplantation, during which time she received immunosuppressive medication consisting of tacrolimus, methylprednisolone, and mycophenolate mofetil. These authors concluded that immunosuppressant therapy could play a role in the development of malignancies in MTS patients [ 15 ]. The development of neoplasms because of immunosuppressive agents should not be underestimated.…”

“…The development of neoplasms because of immunosuppressive agents should not be underestimated. Tacrolimus and cyclosporine, both calcineurin inhibitors, have been reported to cause tumor progression, and switching patients to different drugs, such as mammalian target of rapamycin inhibitors, decreases tumor formation [ 15 , 16 ].…”

Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports

“…Muir-Torre syndrome-associated sebaceous neoplasms have been described in 11 immunosuppressed renal transplant patients with Muir-Torre syndrome (Table 5), [13][14][15]24,32,35,36,38]. This includes one woman who was 43 years old when her sebaceous carcinoma occurred, and 8 men (ranging in age from 37 years to 81 years-median 47 years) when their sebaceous neoplasm occurred).…”