Rare Intestinal Tumor Mimicking Intussusception Sheds Light on Diagnostic Challenges in Young Women

In an illuminating publication in the April 2026 issue of Oncoscience, researchers from the All India Institute of Medical Sciences in Bibinagar report a compelling and diagnostically challenging case of an ileal leiomyoma masquerading as intussusception in a young adult female. The study elucidates critical nuances in imaging interpretation and highlights the intricate interplay between radiology, histopathology, and immunohistochemistry in the accurate identification of rare gastrointestinal tumors.

Leiomyomas, benign neoplasms originating from smooth muscle cells, are prevalently encountered in gynecological settings, notably within uterine tissue. However, their occurrence within the gastrointestinal tract, especially in the ileum, remains exceptionally rare, posing significant diagnostic dilemmas. The ileum’s relative scarcity as a site for such tumors accentuates the complexity clinicians face when correlating clinical symptoms with imaging findings in these cases.

The patient, a 28-year-old woman with a history of hysterectomy due to uterine fibroids, presented with a constellation of symptoms: intermittent colicky abdominal pain, a progressively enlarging palpable mass in the lower abdomen, and unintended weight loss over two months. These clinical features, although nonspecific, necessitated a comprehensive diagnostic workup to unravel the etiology underlying her presentation.

Sophisticated imaging modalities yielded discordant results, underscoring the limitations of relying solely on radiographic impressions for diagnosis. Initial ultrasonography suggested a right ovarian dermoid cyst, a benign but distinct adnexal mass. Contrastingly, contrast-enhanced computed tomography raised suspicion of an infected postoperative hematoma, a complication plausible given the patient’s surgical history. The subsequent magnetic resonance imaging (MRI) was interpreted as showing ileo-ileal intussusception, a pathological invagination of one bowel segment into another causing obstruction. This radiologic triad of conflicting impressions exemplifies the diagnostic pitfalls when encountering unusual tumor presentations.

The hallmark “target sign” on MRI, typically pathognomonic for intussusception, was in this case mimicked by the leiomyoma’s intraluminal composition and morphology, leading to potential misdiagnosis. This observation highlights an important caveat in diagnostic radiology: atypical presentations of benign tumors may closely resemble more common pathologies, which can misdirect clinical management if not corroborated by ancillary investigations.

Faced with diagnostic uncertainty, the multidisciplinary team opted for an exploratory laparotomy. Intraoperative findings revealed a large polypoid tumor measuring 10 by 8 by 5 centimeters situated approximately 15 centimeters proximal to the ileocecal valve. The localized mass was resected en bloc with anastomosis performed between the ileum and ascending colon, restoring bowel continuity without immediate complications.

Microscopic examination of the excised tissue disclosed a spindle-cell neoplasm exhibiting minimal cytological atypia and a low mitotic index, features consistent with a benign smooth muscle tumor. Immunohistochemical staining was pivotal in confirming the diagnosis: positive markers for desmin and S100 underscored muscle lineage, while negative staining for CD117 and CD34 effectively excluded gastrointestinal stromal tumors (GISTs), a morphologically similar yet biologically distinct entity requiring different therapeutic strategies.

This case underscores the indispensable role of integrating advanced imaging, meticulous histopathological evaluation, and targeted immunohistochemical profiling to distinguish elusive gastrointestinal tumors. Given the overlapping radiologic features with more common conditions such as intussusception or adnexal masses, reliance on imaging alone may lead to misdiagnosis and inappropriate management.

Beyond the immediate clinical relevance, the report draws attention to the broader spectrum of hereditary conditions associated with gastrointestinal leiomyomas, including neurofibromatosis type 1 and hereditary leiomyomatosis and renal cell cancer syndrome. These genetic syndromes have documented associations with smooth muscle tumors and necessitate a heightened index of suspicion during patient evaluation, with implications for genetic counseling and surveillance.

Emerging research interests also focus on the molecular and epigenetic underpinnings that govern the behavior of leiomyomas, with the potential to inform targeted therapies. Understanding gene expression patterns, mutational landscapes, and epigenetic modifications could pave the way for precision medicine approaches in managing benign yet diagnostically challenging tumors.

This clinical vignette exquisitely illustrates the diagnostic complexity when benign lesions imitate more sinister abdominal pathologies on imaging. The intricate mimicry of intussusception by an ileal leiomyoma challenges conventional diagnostic algorithms and urges clinicians to adopt a holistic approach that synthesizes clinical, radiologic, surgical, and pathological data.

The reporting authors advocate for increased awareness of such rare presentations among radiologists, surgeons, and pathologists alike. Such interdisciplinary collaboration ensures accurate diagnosis, prevents delays in appropriate treatment, and ultimately improves patient outcomes in unusual cases of gastrointestinal tumors.

In conclusion, this case exemplifies the diagnostic hurdles posed by rare benign tumors in the gastrointestinal tract and the quintessential need for comprehensive diagnostic evaluation. The work by Sultana et al. not only contributes a valuable clinical knowledge to the literature but also sets a precedent for vigilance and methodical investigation when confronting perplexing abdominal masses.