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

Philip R Cohen ¹, Razelle Kurzrock

⁰Department of Dermatology, University of California Davis Health, Sacramento, California, USA Touro University California College of Osteopathic Medicine, Vallejo, California, USA. mitehead@gmail.com.

Dermatology Online Journal +

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May 19, 2024

View abstract on PubMed

Summary

Muir-Torre syndrome patients may develop sebaceous neoplasms due to mismatch repair gene mutations, often unmasked by immunosuppression. Genetic testing for mismatch repair genes is recommended for all patients with these tumors.

Area Of Science

Oncology
Genetics
Dermatology

Background

Muir-Torre syndrome is characterized by a predisposition to sebaceous neoplasms and visceral malignancies.
It typically arises from germline mutations in DNA mismatch repair (MMR) genes.

Observation

Iatrogenic or acquired immunosuppression can trigger or unmask Muir-Torre syndrome.
Sebaceous neoplasms associated with Muir-Torre syndrome are observed in immunosuppressed individuals, including organ transplant recipients and those with HIV or chronic diseases.
These neoplasms appear more frequently and at an earlier age in kidney transplant recipients compared to liver recipients.

Findings

Immunosuppressive agents can promote the development of sebaceous tumors in genetically predisposed individuals.
Switching from calcineurin inhibitors (cyclosporine, tacrolimus) to mTOR inhibitors (sirolimus, everolimus) may reduce sebaceous neoplasm development.
Muir-Torre syndrome-associated sebaceous neoplasms and related visceral cancers warrant exploration for novel immunotherapies, such as anti-cancer vaccines or checkpoint blockade.

Implications

Routine germline testing for MMR gene aberrations should be considered for all patients presenting with Muir-Torre syndrome-associated sebaceous neoplasms, regardless of immune status.
Early identification and genetic counseling are crucial for managing Muir-Torre syndrome and its associated risks.
Further research into targeted immunotherapies could offer new treatment avenues for patients with Muir-Torre syndrome.