"Leiomyoma of ileum, though benign, present diagnostic challenges due to imaging similarities with other abdominal pathologies."
BUFFALO, NY — June 10, 2026 — A new case report was published in Volume 13 of Oncoscience on April 15, 2026, titled " Ileal leiomyoma disguised as intussusception: Imaging pitfalls in a 28-year-old female ."
The study was led by first author Reshmi Sultana and corresponding author Tushar M. Parmeshwar from the All India Institute of Medical Sciences, Bibinagar, India .
Diagnosing abdominal masses can be challenging when imaging findings point in different directions. This was the case for a 28-year-old woman whose progressively enlarging abdominal mass was initially suspected to represent several different conditions before surgery revealed the true diagnosis: a rare ileal leiomyoma.
Leiomyomas are benign tumors that arise from smooth muscle tissue. While they are commonly found in the uterus, they rarely occur in the gastrointestinal tract. Small bowel leiomyomas are particularly uncommon, with tumors of the ileum representing one of the rarest locations.
The patient presented with a two-month history of intermittent colicky abdominal pain, a progressively enlarging lower abdominal mass, and unintentional weight loss. She had previously undergone a hysterectomy for uterine fibroids, but her symptoms persisted. Imaging studies produced conflicting results, complicating the diagnostic process.
Ultrasound initially suggested a right ovarian dermoid tumor, while contrast-enhanced computed tomography raised the possibility of an infected postoperative hematoma. Magnetic resonance imaging subsequently indicated what appeared to be an ileo-ileal intussusception. Because each imaging modality pointed toward a different diagnosis, determining the nature of the mass before surgery proved difficult.
To clarify the diagnosis, the medical team performed an exploratory laparotomy. During surgery, they discovered a large intraluminal tumor measuring 10 × 8 × 5 cm located approximately 15 cm proximal to the ileocecal junction. The mass was successfully removed, and bowel continuity was restored through an ileo-ascending colon anastomosis.
Histopathological examination revealed a spindle-cell tumor with minimal atypia and a very low mitotic index, findings consistent with an ileal leiomyoma. Immunohistochemical analysis further confirmed the diagnosis through positive desmin and S100 staining and negative CD117 and CD34 staining, helping distinguish the tumor from gastrointestinal stromal tumors (GISTs), which often require different clinical management.
The case also illustrates an important imaging pitfall. The tumor's appearance created a target-like pattern resembling intussusception, a condition in which one segment of intestine telescopes into another. This similarity contributed to the diagnostic uncertainty and highlights the limitations of relying on imaging findings alone in rare gastrointestinal tumors.
"Accurate differentiation requires integrated imaging, histopathology, and immunohistochemistry."
According to the authors, gastrointestinal leiomyomas may occasionally be associated with hereditary conditions such as neurofibromatosis type 1 and hereditary leiomyomatosis and renal cell cancer syndrome, underscoring the importance of comprehensive clinical evaluation in selected patients. The report also notes growing interest in the molecular and epigenetic mechanisms that may influence tumor behavior and inform future therapeutic strategies.
Overall, this case highlights how rare benign tumors can mimic a variety of abdominal conditions and emphasizes the importance of combining imaging, surgical evaluation, histopathology, and immunohistochemistry to achieve an accurate diagnosis and guide appropriate treatment.
DOI: https://doi.org/10.18632/oncoscience.656
