Korean J Ophthalmol.  2013 Jun;27(3):204-207. 10.3341/kjo.2013.27.3.204.

A Case of Muir-Torre Syndrome with Multiple Cancers of Bilateral Eyelids and Breast

• Kamisasanuki T
• Uchino E
• Fukushima
• Yoshikawa
• Ishibashi
• Sakamoto T

• KMID: 1798059
• DOI: http://doi.org/10.3341/kjo.2013.27.3.204

Abstract

We report a case of Muir-Torre syndrome (MTS) with a very rare combination of cancers, involving bilateral eyelid cancers and breast cancer. A 71-year-old female with a history of breast cancer from 18 years prior presented with bilateral eyelid tumors. One of her siblings had lung cancer, and another had pancreatic cancer. She underwent excisional biopsy of the eyelid tumors and histopathology revealed sebaceous carcinoma of the right eyelid and basal cell carcinoma of the left. She was diagnosed with MTS: a skin cancer associated with visceral malignancy. Immunohistochemical tests for mutS homolog 2 showed a lack of expression in both eyelid carcinomas.

Keyword

Breast neoplasms; Eyelids; Immunohistochemistry; Pancreatic neoplasms

MeSH Terms

Aged
Breast Neoplasms/*pathology
Eyelid Neoplasms/*pathology
Family Health
Female
Humans
Muir-Torre Syndrome/*pathology
Neoplasms, Multiple Primary/*pathology

Figure

• 

  Fig. 1 Photographs of eyelid tumors and light microscopic photographs of excised tissues. (A) Photograph of the right eyelid tumor. A small mass is noted (arrow). (B) Photograph of the left eyelid tumor. A slightly elevated lesion with slight erosion is noted at the edge of the eyelid (arrow). (C,E) Light microscope photographs of the right eyelid tumor. Cancer cells proliferate, forming a nest-like structure. Cancer cells have large nuclei and clear cytoplasms (H&E, ×50). (D,F) Light microscope photographs of the left eyelid tumor. Cancer cells proliferate and invade in a morphea-like pattern. Cancer cells have oval-shaped nucleus with hematoxylin-positive cytoplasms (H&E, ×200).

• 

  Fig. 2 Immunohistochemistry for mutL homolog (MLH) 1 of cancer cell of right eyelid (A) and left eyelid (B). Cancer cells show a positive reaction for MLH1 (A,B; arrow), as in the colon cancer cells (positive control) (C, arrow). Immunohistochemistry for mutS homolog (MSH) 2 of cancer cell of right eyelid (D) and left eyelid (E). There is no positive reaction to MSH2 in the eyelid tumors (D,E; arrow), in comparison to the colon cancer cells (positive control) (F, arrow) (×200).

Reference

1. Shalin SC, Lyle S, Calonje E, Lazar AJ. Sebaceous neoplasia and the Muir-Torre syndrome: important connections with clinical implications. Histopathology. 2010. 56:133–147.

2. South CD, Hampel H, Comeras I, et al. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. 2008. 100:277–281.

3. Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br J Surg. 1967. 54:191–195.

4. Torre D. Multiple sebaceous tumors. Arch Dermatol. 1968. 98:549–551.

5. Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005. 6:980–987.

6. Kwak EL, Chung DC. Chung DC, Harbor DA, editors. Hereditary colon cancer: Lynch syndrome. Principles of clinical cancer genetics: a handbook from the Massachusetts General Hospital. 2010. New York: Springer;77–88.

7. Akhtar S, Oza KK, Khan SA, Wright J. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol. 1999. 41(5 Pt 1):681–686.

8. Marazza G, Masouye I, Taylor S, et al. An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions. Arch Dermatol. 2006. 142:1039–1042.

9. Abbas O, Mahalingam M. Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. J Cutan Pathol. 2009. 36:613–619.

10. Ko CJ. Muir-Torre syndrome: facts and controversies. Clin Dermatol. 2010. 28:324–329.

11. Takamura H, Yamashita H. Clinicopathological analysis of malignant eyelid tumor cases at Yamagata university hospital: statistical comparison of tumor incidence in Japan and in other countries. Jpn J Ophthalmol. 2005. 49:349–354.