Cancer risk and management in a woman with Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is known to cause an elevated risk of cancer development. We present the case of a 41-year-old Japanese woman with PJS who had various lesions in the abdominal and pelvic organs. The preoperative diagnosis was a right ovarian tumor suspected to be a mucinous borderline tumor, a uterine cervical lesion suspected to be lobular endocervical glandular hyperplasia (LEGH), gastrointestinal hamartomatous polyps, and intestinal invagination. She underwent hysterectomy, right salpingo-oophorectomy, left salpingectomy, and partial resection of the jejunum. The pathological diagnosis was an endometriotic cyst of the right ovary, atypical LEGH of the cervix, gastric metaplasia of the fallopian tube, intestinal hamartomatous polyps, and adenocarcinoma in a polyp of the jejunum. This case is representative for women with PJS who may develop multifocal malignancies positively based on the germline mutation of the LKB1/STK11 gene. The cancer risk, surveillance guidelines, and management for women with PJS were discussed in this case conference. Keywords Peutz-Jeghers syndrome (PJS) Á Cancer risk Á Hamartomatous polyps Á Intestinal adenocarcinoma Á Ovarian tumor Á Lobular endocervical glandular hyperplasia (LEGH) Á Gastric metaplasia Case presentation Dr. Suzuki (Gynecologist, Chairperson of the conference) Good afternoon! Today, we would like to review the cancer risk, surveillance, and management in women with Peutz-Jeghers syndrome (PJS). First, we will have a presentation of a patient with PJS having various lesions, and then discuss the clinical assessment, treatment, and specific pathology. Drs. Yasumoto and Oiwa (Gynecologists) The patient is a 41-year-old, nulligravid woman, with a desire for further examination of her abdominal mass. Family history revealed that her mother and sister had been diagnosed with PJS (Fig. 1). In addition, the mother had both breast and duodenal cancers, and died of the latter malignancy at the age of 48. The elder sister also died from uterine cervical cancer at the age of 30. The past history and present illness revealed that she had an emergent laparotomy at the age of 10 for intestinal intussusception. At that time, she was diagnosed with PJS

Successful pregnancy in a Peutz–Jeghers syndrome patient with lobular endocervical glandular hyperplasia

“…A search of the PubMed database using the keywords 'Peutz-Jeghers syndrome' and 'lobular endocervical glandular hyperplasia' revealed that there have been four case reports on PJS with LEGH. [5][6][7][8] Two of these were diagnosed by hysterectomy 6,8 and one by simple trachelectomy. 5 In the fourth case, conization was performed and the patient was followed for 12 months, but no recurrence was noted.…”

“…Reportedly, MDA develops in 15–30% of PJS patients, and about 10% of MDA patients have PJS . However, there have been only a few reports of PJS patients complicated by LEGH; to our knowledge, only four cases have been reported . As the lesions of LEGH and MDA tend to be present near the internal os, hysterectomy, not conization of the cervix, is necessary to diagnose these accurately.…”

“…2,4 However, there have been only a few reports of PJS patients complicated by LEGH; to our knowledge, only four cases have been reported. [5][6][7][8] As the lesions of LEGH and MDA tend to be present near the internal os, 9 hysterectomy, not conization of the cervix, is necessary to diagnose these accurately. Hysterectomy may be readily selected when the patient is postmenopausal or does not wish to have a child, but it cannot be easily selected for patients who want to preserve fertility.…”