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A case of Peutz-Jeghers syndrome with breast cancer, bilateral sex cord tumor with annular tubules, and adenoma malignum caused by STK11 gene mutation.
Clements A, Robison K, Granai C, Steinhoff MM, Scalia-Wilbur J, Moore RG.
Program in Women's Oncology, Department of Obstetrics and Gynecology, Women and Infants Hospital, Brown University, Providence, RI, USA.
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and women with this syndrome are at an increased risk of developing intestinal and extraintestinal malignancies including breast and gynecologic malignancies. This case report presents a patient with PJS with a concomitant breast cancer, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.
CASE: A 43-year-old woman presented with an advanced-stage breast cancer and a pelvic mass. The patient was treated with neoadjuvant chemotherapy followed by laparotomy with a hysterectomy and oophorectomy. Final pathologic examination revealed a concomitant breast cancer with metastasis to the ovaries, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.
CONCLUSIONS: Patients with PJS are at a high risk for intestinal and extraintestinal malignancies and can present with multiple concomitant malignancies.
Thanks Sandi!
ReplyDeleteStephanie with PJS
I truly wish that many cancer patients/families including hcp's would learn more about some of the genetic syndromes which affect many. PJS is really unknown by most yet its effects can be devastating. It gets very complicated, doesn't it, Stephanie.
ReplyDeleteFor those not familiar:
"It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births. Medline Plus"
I think there is so little understanding of PJS out there, people are very unaware of the condition and it's complexity. My wife who had had PJS for a while now didn't know until last week it's connection to breast cancer. Much worse, many doctors don't fully understand it. There is a lot of free, simple and rather interesting material out there about PJS, and when people are interested I always like to send them a link or two:
ReplyDeletehttp://www.wepapers.com/Papers/93269/Peutz-Jeghers_Syndrome._ppt
http://en.wikipedia.org/wiki/Peutz-jeghers_syndrome
Thanks for the links.
ReplyDelete