Cervical Adenocarcinoma in a Patient With Lynch Syndrome, Muir-Torre Variant (cervical/skin cancers/gyn cancers in Muir-Torre...)

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Introduction
Lynch syndrome, also known as hereditary nonpolyposis colorectal
cancer syndrome, is the most common form of hereditary
colorectal cancer. Patients with Lynch syndrome are at high risk of
developing colorectal cancer at an early age (mean, age 45 years), in
addition to extracolonic cancers. The most common extracolonic
cancer in Lynch syndrome is endometrial carcinoma. Other extracolonic
cancers seen in Lynch syndrome include carcinoma of the ovary,
stomach, small bowel, pancreas, hepatobiliary, brain, and upper
genitourinary tract. Patients with Lynch syndrome may also have
skin tumors, which is consistent with the Muir-Torre variant of
Lynch syndrome.


"....There have been few reports of gynecologic malignancies in association with Muir-Torre syndrome published in the literature.......

"Our case raises the question of whether cervical cancer is part of the spectrum of malignancies found in Lynch syndrome. Although the pathologic diagnosis was cervical adenocarcinoma, there is a lingering question of whether it is possible that this was in fact adenocarcinoma of the lower uterine segment. Because the pathology showed papillary serous cervical adenocarcinoma, additional studies were of little use in distinguishing between cervical and uterine cancer. Papillary serous carcinomas of the cervix are not associated with human papilloma virus,8 and the marker p16 is positive in 90%to 100% of cells in papillary serous carcinoma."

"Additionally, this case, one of the few published reports of Muir-Torre syndrome, demonstrates the importance of vigilant screening of skin lesions in patients with Lynch syndrome, given their high risk of developing malignancies of the skin."

ASCO abstract: Association of Lynch syndrome and risk of invasive cervical cancer.

Abstract:
Background: Lynch syndrome, a hereditary cancer syndrome characterized by germline mutations in mismatch repair (MMR) genes, is associated with an elevated lifetime risk of cancer development, predominantly endometrial, colorectal and ovarian. To date, no increased risk of cervical cancer for mutation carriers has been reported.