A woman in her 40s had surgery to remove a gynecologic tumor. During the procedure, the surgeon noted that she had numerous polyps in her small intestine that may be causing it to undergo intussusception, meaning one section of bowel slides into the next. The surgeon suspected Peutz-Jeghers syndrome (PJS), since intussusception and large, mushroom-like, or pedunculated, polyps are features of this inherited condition, known to significantly increase the risk of certain types of tumors, such as colon, pancreatic, stomach, breast, and ovarian cancer.
PJS occurs in individuals who have a pathogenic variant in one copy of the STK11 gene. The surgeon consulted colleagues with genetics expertise to help explore whether this woman had the condition. The patient saw a genetic counselor, who noted that in addition to the pedunculated polyps in the small bowel, this woman had other classical features of PJS, such as hyperpigmentation of the lips and fingertips.
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