MRKH: Knowing Your Family Cancer History

As I have posted many times, I “won” the genetic lottery. I was born with MRKH, under-development of my reproductive tract and Lynch Syndrome, which predisposes me to colorectal and other cancers. I learned about my MRKH when I was 16. My uterus stopped growing quite early, and my upper vaginal canal never formed. In my teens, I had a surgery, called a McIndoe, to create a neovagina. During this procedure, they took a skin graft from my backside and used it to create a vaginal canal. It would be years before I knew I also had Lynch Syndrome.

IMG_2636 - Version 2.jpgThere are many ways to create a vaginal canal. The American College of Gynecology recommends using dilators to stretch the lower portion of the vaginal canal. The success rate is usually quite high, and there is a considerable emotional component to dilating. Another fairly common surgical method is to take a portion of the sigmoid colon to create the vaginal canal. I’ve spoken with many women who’ve had this procedure, and most are quite happy with the results.

I never really had an opinion on using the sigmoid colon until I was diagnosed with familial colon cancer (Lynch Syndrome) at the age of 47. One of my first thoughts was, “I’m thankful I did not have the sigmoid colon surgery.” If I had, I would have an increased risk of developing colon cancer in my vaginal canal! I certainly didn’t need that extra headache.

Today, I was looking through my MRKH paper database and came across a 2014 paper describing the discovery of adenocarcinoma of the vaginal canal in a 47 year old woman with MRKH who had created a vaginal canal using a portion of her sigmoid colon (Ruegner, 2014). The pathology report classified this 3 cM tumor as an invasive, moderately differentiated, mucinous adenocarcinoma, with one affected lymph node. Due to the invasiveness of the tumor, the surgeons removed the entire neovagina.

IMG_2380.JPGThe patient’s mother and maternal grandmother both were diagnosed with colon cancer, and the patient was diagnosed with clear cell renal cancer at 38 and infiltrating ductal carcinoma at 44. One thing that puzzled the authors is that they could not explain renal and breast cancer. That is surprising; those of us with Lynch Syndrome are at increased risk for renal and breast cancers.

It turns out that there have been a total of three published reports of mucinous adenocarcinoma in MRKH women (Hiroi et al., 2001; Munkarah et al., 1994; Ruegner, 2014). All used tissue from the sigmoid colon to create a neovagina.

As a person with both MRKH and Lynch Syndrome, I am thankful that I did not choose this surgery. When I was diagnosed, no one in my immediate family had yet been diagnosed with cancer, let alone Lynch Syndrome. I was in college when my Mom was first diagnosed with cervical cancer (adenocarcinoma) and my 20s when my maternal grandfather was diagnosed with prostate cancer (adenocarcinoma). My Mom was finally diagnosed with Muir Torre Syndrome, a subset of Lynch Syndrome, when I was in my early 40s. Would testing for familial colon or other cancers (e.g. melanoma) be a smart move when one is diagnosed with MRKH? Should gynecologists, urologists and MRKH specialists be informed of these risks? There are many ethical considerations regarding genetic testing on 16 year olds, but I wonder if the long-term consequences warrant further exploration of the incidence of familial cancers in those with MRKH, especially those cancers that affect tissues used in creating a vaginal canal (e.g. colon and skin). At the least, these data should be brought to the attention of genetic counselors, gynecologists and gastroenterologists.


Hiroi, H., Yasugi, T., Matsumoto, K., Fujii, T., Watanabe, T., Yoshikawa, H., and Taketani, Y. (2001). Mucinous adenocarcinoma arising in a neovagina using the sigmoid colon thirty years after operation: a case report. J Surg Oncol 77, 61-64.

Munkarah, A., Malone, J.M., Jr., Budev, H.D., and Evans, T.N. (1994). Mucinous adenocarcinoma arising in a neovagina. Gynecologic oncology 52, 272-275.

Ruegner, C.N., Benton, M., Dunsmore, N., Perry, G., Castellani, R.J. (2014). Colonic Adenocarcinoma of a Neovagina in a Patient with Mullerian Agenesis. Reproductive System & Sexual Disorders 03.

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