Gastrointestinal stromal tumors (GISTs) may sometimes manifest as gynecologic diseases in some patients, according to a case series published in Diagnostics.

In the series, 20 different patients had masses or symptoms indicative of possible gynecological disease. A pelvic mass and/or abdominal pain was present in 18 patients and the other 2 had either a rectovaginal or anorectal mass.

Through gross and histological analysis of the gynecological organs, it was found that 3 cases involved the ovaries, 2 cases involved the uterus, 2 cases in the vagina, and 1 case in the broad ligament. Peritoneal organ involvement and liver metastasis were found in 2 patients.

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“We extensively discussed these cases focusing on their differential diagnosis described by the submitting pathologists during consultation. Our study emphasizes the importance of precision diagnosis of GISTs,” the authors said. “Alertness to this entity in unusual locations, in combination with clinical history, morphological features as well as immunophenotype, is crucial in leading to a definitive classification.”

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Analysis of history and clinical examinations indicated that 13 cases had a likely origin in the small bowel, 3 from the rectum, 3 from the stomach, and 1 from a recurrent pelvic GIST with unavailable primary site information. The tumors ranged in size between 2.7 cm and 27 cm (mean, 12.7 cm; median, 11 cm) but 12 cases were also associated with multiple smaller nodules distributed in the peritoneal/pelvic cavity.

Through immunohistochemical analysis, it was discovered that all 20 tumors were immunoreactive for c-KIT and all tested (10/10) were positive for DOG-1. Focal to diffuse positivity to CD34 was observed in 11 out of 12 tested tumors. In contrast, desmin (1/14) and SMA (2/8) were only detected in a small number of patients.

Mutations in the c-KIT gene were detected in 7 out of the 8 patients tested. A pathogenic RB1 mutation was also observed in 2 cases.

Follow-up information was available in the study for 15 of the patients with 5 showing no evidence of disease after a median follow-up of 17 months. Multiple recurrences or disease progression was present in 6 patients who were still living. The death occurred in 4 patients: 2 from GISTs, 1 from acute myeloid leukemia, and 1 from an unknown reason.


Liu Y, Shahi M, Miller K, et al. Gastrointestinal stromal tumors mimicking gynecologic disease: clinicopathological analysis of 20 cases. Diagnostics. 2022;12(7):1563. doi:10.3390/diagnostics12071563