A case of Peutz-Jeghers syndrome with breast cancer, bilateral sex cord tumor with annular tubules, and adenoma malignum caused by STK11 gene mutation.
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.


METHODS
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.
Clements
Aine
A
Program in Women's Oncology, Department of Obstetrics and Gynecology, Women and Infants Hospital, Brown University, Providence, RI, USA.
Robison
Katina
K
Granai
Cornelius
C
Steinhoff
Margaret M
MM
Scalia-Wilbur
Jennifer
J
Moore
Richard G
RG
D000091162:AMP-Activated Protein Kinase Kinases; D000236:Adenoma / Q000150:complications* / Q000235:genetics; D000328:Adult; D001943:Breast Neoplasms / Q000150:complications* / Q000235:genetics; D044584:Carcinoma, Ductal / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation / Q000502:physiology; D010049:Ovarian Diseases / Q000150:complications / Q000235:genetics; D010051:Ovarian Neoplasms / Q000150:complications* / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D018312:Sex Cord-Gonadal Stromal Tumors / Q000150:complications* / Q000235:genetics; D002583:Uterine Cervical Neoplasms / Q000150:complications / Q000235:genetics
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases