BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant condition with variable penetrance characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Patients with PJS have an increased risk for breast, gastrointestinal and female genital tract cancers. CASE: Multiple genital tract neoplasms in a 41-year-old Italian woman with PJS are described. The patient presented with abdominal pain due to intussusception. A CT scan of the abdomen also showed a left adnexal mass, diagnosed as ovarian mixed serous and mucinous borderline tumor. An ovarian microscopic sex cord tumor with annular tubules (SCTAT) was incidentally diagnosed together with a minimal deviation mucinous adenocarcinoma of the uterine cervix. Also areas of typical hyperplasia of the tubal mucosa with mucinous metaplasia were found. CONCLUSION: This appears to be one of the rare cases reported in literature in which PJS is complicated by multiple and contemporaneous genital tract tumors and rare histological findings. The clinical significance of recurrence of these unusual genital tract tumors and histological alterations in PJS patients is reviewed.
BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant condition with variable penetrance characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Patients with PJS have an increased risk for breast, gastrointestinal and female genital tract cancers. CASE: Multiple genital tract neoplasms in a 41-year-old Italian woman with PJS are described. The patient presented with abdominal pain due to intussusception. A CT scan of the abdomen also showed a left adnexal mass, diagnosed as ovarian mixed serous and mucinous borderline tumor. An ovarian microscopic sex cord tumor with annular tubules (SCTAT) was incidentally diagnosed together with a minimal deviation mucinous adenocarcinoma of the uterine cervix. Also areas of typical hyperplasia of the tubal mucosa with mucinous metaplasia were found. CONCLUSION: This appears to be one of the rare cases reported in literature in which PJS is complicated by multiple and contemporaneous genital tract tumors and rare histological findings. The clinical significance of recurrence of these unusual genital tract tumors and histological alterations in PJSpatients is reviewed.
Authors: Jason D Fraser; Steven E Briggs; Shawn D St Peter; Giovanni De Petris; Jacques Heppell Journal: Fam Cancer Date: 2008-08-23 Impact factor: 2.375