Introduction: Gastrointestinal stromal tumors (GISTs) arising from the gynecological tract are extremely rare. A case of GIST with an unusual presentation as a vaginal mass is presented with comprehensive literature review, aiming to gain a better understanding of the diagnostic and treatment strategy of the disease.
Patient concerns: A 78-year-old woman presented with persistent vaginal bleeding and difficulty in micturition. Although the tumor mass was diagnosed, the results of preoperative evaluations are uncertain.
Diagnosis: Preoperative evaluation included the computed tomography examination (a 6.3×5.3 cm cervical mass lesion with rectal and vaginal invasion), colonoscopy (an external compression with an intact mucosa), tumor markers, and biopsy (spindle cell tumor). Postoperative histopathology confirmed the diagnosis of GIST.
Interventions: Posterior exenteration with complete resection was performed. The patient received postoperative adjuvant imatinib therapy.
Outcomes: The patient has survived without the disease for more than 3 years.
Conclusion: It is still a challenge to diagnose GISTs in women with rectovaginal mass preoperatively. Efforts should be made, including a high suspicion and an assistance of immunohistochemistry. A precise diagnosis may offer a better surgical and treatment plan, especially on the preservation of reproductive organs and accessibility of targeted therapy.