Rectal endometriosis without typical gynecological symptoms mimics gastrointestinal stromal tumors: a case report and literature review

Rectal endometriosis may be similar to gastrointestinal stromal tumors (GIST), especially in women without typical gynecological or cyclical gastrointestinal symptoms. A 45-year-old female patient had an eight-year history of rectal defecation difficulty and increased defecation frequency, but no dysmenorrhea or increased menstrual flow. Colonoscopy revealed a smooth protruding lesion on the rectal surface, and endoscopic ultrasound showed a heterogeneous lesion within the muscular layer, with intact surface mucosa, suggesting the possibility of GIST. A laparoscopic anterior resection was performed. Postoperative histopathology showed ectopic endometrial glands and stroma, combined with positive estrogen and progesterone receptors and expression of CD10 in the stroma, confirming rectal endometriosis. The patient’s symptoms improved significantly and recovered well. Subsequently, this study reviewed 12 reported cases, and the results showed that intestinal endometriosis and gastrointestinal tumors have overlapping diagnoses in terms of diagnosis. Even without periodic symptoms, the possibility of rectal endometriosis should be considered for women with rectal submucosal lesions. A comprehensive assessment of clinical history, pelvic anatomical relationship, imaging examinations, and histological evaluation should be conducted to establish the diagnosis and guide treatment.