Display options
Cite
Tulpule S, Ibrahim H, Osman M, et al. Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. Case Rep Oncol. 2016;9(1):95-9doi: 10.1159/000443788.
Tulpule, S., Ibrahim, H., Osman, M., Zafar, S., Kanta, R., Shypula, G., Islam, M. A., Sen, S., & Yousif, A. (2016). Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. Case reports in oncology, 9(1), 95-9. https://doi.org/10.1159/000443788
Tulpule, Sunil, et al. "Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma." Case reports in oncology vol. 9,1 (2016): 95-9. doi: https://doi.org/10.1159/000443788
Tulpule S, Ibrahim H, Osman M, Zafar S, Kanta R, Shypula G, Islam MA, Sen S, Yousif A. Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma. Case Rep Oncol. 2016 Feb 04;9(1):95-9. doi: 10.1159/000443788. eCollection 2016. PMID: 26933426; PMCID: PMC4772623.
Copy Download .nbib Format: NLM
Share it on

Case Rep Oncol. 2016 Feb 04;9(1):95-9. doi: 10.1159/000443788. eCollection 2016.

Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma.

Case reports in oncology

Sunil Tulpule, Hiyam Ibrahim, Mohamed Osman, Shoaib Zafar, Romana Kanta, Gregory Shypula, Mohammed A Islam, Shuvendu Sen, Abdalla Yousif

Affiliations

  1. Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.

PMID: 26933426 PMCID: PMC4772623 DOI: 10.1159/000443788

Abstract

Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.

Keywords: Hereditary nonpolyposis colon cancer; MSH6; Muir-Torre syndrome; Sebaceous carcinoma

References

  1. Cutis. 2008 Oct;82(4):252-6 - PubMed
  2. Cutis. 2005 Mar;75(3):149-55 - PubMed
  3. J Am Acad Dermatol. 2013 Mar;68(3):509-10 - PubMed
  4. Clin Exp Dermatol. 2009 Mar;34(2):264-6 - PubMed
  5. Arch Pathol Lab Med. 2014 Dec;138(12):1685-9 - PubMed
  6. Am J Med. 1991 May;90(5):606-13 - PubMed
  7. Dermatol Online J. 2006 Sep 08;12 (5):4 - PubMed
  8. J Cutan Pathol. 2009 Jun;36(6):613-9 - PubMed
  9. J Am Acad Dermatol. 1999 Nov;41(5 Pt 1):681-6 - PubMed
  10. J Cutan Med Surg. 2012 Nov-Dec;16(6):394-9 - PubMed
  11. Medicine (Baltimore). 1984 Jul;63(4):232-42 - PubMed
  12. Eur J Surg Oncol. 2009 Oct;35(10 ):1128-30 - PubMed
  13. Adv Exp Med Biol. 2010;685:186-95 - PubMed
  14. Histopathology. 2010 Jan;56(1):133-47 - PubMed

Publication Types