Jejunal leiomyosarcoma leading to intestinal intussusception: a case report

Introduction

Background

The small intestine accounts for 75% of the gastrointestinal (GI) tract, yet the incidence of GI malignancies is less than 5% in this organ (1,2). Malignant small bowel neoplasms are rare and encompass carcinoids (44.3%), adenocarcinomas (32.6%), lymphomas (14.7%), GI stromal tumors (GISTs) (7.2%), and leiomyosarcomas (LMS) (1.2%) (3). LMS of the small bowel is extremely rare, and its symptoms include GI bleeding, weight loss, chronic abdominal pain, and intestinal obstruction and perforation (4). Rare cases of small intestinal LMS may also be accompanied by small intestinal intussusception (5) as observed in the present case.

Rationale and knowledge gap

LMS stems from the smooth muscle cells of intestinal wall and exhibits aggressive clinical progression. Owing to its rarity, small bowel LMS is not well characterized in large-scale studies, making its epidemiology and optimal treatment approach less defined. In some cases, LMS can present as the lead point (LP) of intussusception, a condition in which one segment of the intestine telescopes into another, causing obstruction, ischemia, and necrosis.

The diagnosis of small bowel tumors, including LMS, remains challenging owing to their location and the limitations of conventional endoscopic methods. Conventional upper GI endoscopy and colonoscopy prove insufficient for thorough visualization of the small intestine, prompting the use of advanced imaging means such as computed tomography (CT), magnetic resonance enterography (MRE), or capsule endoscopy (6). Despite imaging advancements, histological examination remains the ultimate benchmark for accurate diagnosis. Immunohistochemistry is key to differentiating LMS from similar spindle cell tumors such as GIST. Typically, LMS exhibit smooth muscle actin (SMA) positivity and CD117 and DOG-1 negativity (7).

Given the aggressive nature of LMS and its tendency for late presentation, early detection and surgical intervention are crucial for improving patient outcomes. Surgical resection remains the primary treatment option, as LMS is generally resistant to chemotherapy and radiotherapy. Herein, we report a rare case of jejunal LMS causing intestinal intussusception in an adult patient, highlighting the diagnostic challenges and surgical management strategies.

Objective

The purpose of this case report is to describe a rare presentation of jejunal LMS causing acute intestinal obstruction, emphasizing its diagnostic challenges, management approach, and clinical implications. We present this case in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-95/rc).

Case presentation

A 56-year-old woman was first admitted to our hospital in June 2024 with over 10 days of abdominal pain characterized by intermittent swelling and paroxysmal aggravation. There was no family history of the disease. The patient did not experience vomiting, hematemesis, or melena, but reported a 5-kg weight loss in the previous month. Initial CT scans showed no significant abnormalities, and the patient was discharged after symptomatic treatment.

In August 2024, the patient was readmitted to the hospital with persistent upper abdominal pain. Abdominal CT performed on admission revealed left mid-abdominal jejuno-jejunal intussusception (Figure 1). After excluding surgical contraindications, the patient underwent laparoscopic partial small bowel resection with abdominal drainage under general anesthesia on August 14. Intraoperative findings revealed proximal intestinal expansion and intestinal intussusception about 80 cm away from the Trowel ligament containing a tough mass.

Figure 1 CT scan. (A) Coronal CT scan shows jejune-jejunal intussusception (arrow); (B) the concentric circle sign of intussusception (arrow); (C) the mesentery of the jejunum and blood vessels enter the adjacent intestinal lumen (arrow). CT, computed tomography.

Postoperative examination revealed a tumor, measuring 4 cm × 4 cm × 2 cm, with a smooth surface protruding into the intestinal lumen (Figure 2). Morphology, immunohistochemistry, and postoperative pathology confirmed LMS (Figure 3A), with about 60% of tumor cells showing SMA (+) (Figure 3B), desmin (−), H3K27Me3 (+), CDK4 (+), S-100 (−), CD117 (−), DOG1 (−), CD34 (−), STAT6 (−), MyoD1 (−), myogenin (−), PCK (−), and Ki-67 (+) staining. No tumor involvement was observed at both ends of the bowel. The patient recovered well and was discharged with recommendations for genetic testing and targeted therapy. Up until now, the patient has been followed up in good condition and has refused further genetic testing and other treatments.

Figure 2 Postoperative gross specimen of the resected tumor (4 cm × 4 cm × 2 cm) with a smooth surface and luminal protrusion.

Figure 3 Staining of the resected tumor. (A) H&E (200× magnification). Severe atypical cells were observed in the staining. (B) SMA immunostaining (200× magnification), confirming LMS diagnosis. H&E, hematoxylin and eosin; LMS, leiomyosarcoma; SMA, smooth muscle actin.

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

Key findings

This report describes the successful treatment of a rare case of jejunal LMS with intussusception resection in an adult patient.

Strengths and limitations

Herein, we present a case of jejuno-jejunal obstruction caused by LMS. The incidence of small bowel tumors is 22.7 cases per million, with sarcomas accounting for only 1.2% of these cases (1). Thus, LMS of the small bowel is exceptionally rare, to the extent that the World Health Organization lacks sufficient data on its demographic and clinical characteristics. However, there are some limitations to consider, including a short follow-up period, inability to detect LMS on the initial CT, and the scarcity of reports on intussusception caused by LMS.

Comparison with similar research

The main difference between our case and a previously reported case of small intestinal LMS is that the LMS in our patient occurred in the jejunum and led to jejuno-jejunal intussusception, whereas in the previous case, LMS mostly occurred in the ileum. LMS originates from the lamina propria, muscular mucosa, or smooth muscle cells associated with blood vessels of the small intestine; it is large in size and mostly extraluminal in type (8). In contrast, the mass grew completely intracavitary in our patient. Therefore, the mass was not detected in the intestinal contraction state during the initial CT examination.

Explanation of findings

Intussusception can transpire at various locations within the small and large intestines. Categorized according to the LP, there are four forms of intussusception: entero-enteric (solely concerning the small intestine), colo-colic (limited to the large intestine), ileocolic (wherein the terminal ileum telescopes into the ascending colon), and ileocecal (the ileocecal valve being the LP) (9). In the majority of adult cases, intussusception stems from the small intestine, with the LP typically being a benign condition—adhesion, stenosis, Meckel’s diverticulum, inflammatory bowel disease, or benign growths (lipomas and leiomyomas) (10). However, the LP could alternatively be a malignant alteration, most prevalently metastatic foci (derived from melanoma, breast, and lung cancers), colonic adenocarcinoma, or lymphoma. Additional uncommon malignant triggers linked to small bowel intussusception encompass GISTs, malignant fibrous histiocytomas, carcinoid tumors, neuroendocrine neoplasms, and LMS (11).

Diagnosing such small bowel tumors is challenging; often, symptoms do not surface until metastasis (12). For concerning symptoms such as weight loss, constipation, and rectal bleeding, the typical initial step is to perform esophagogastroduodenoscopy (OGD) and colonoscopy (13). However, these two modalities frequently miss small bowel tumors, and therefore, additional imaging is essential. Options such as MRE, CT colonography (CTC), and wireless capsule endoscopy (WCE) are effective diagnostically (14). CTC has an edge over other modalities in terms of accessibility and resolution (15). WCE is a promising alternative that can precisely detect smaller superficial lesions (16). However, despite progress in imaging techniques, pre-operative differentiation of tumor benignity and malignancy remains challenging (17). Thus, a definitive diagnosis hinges on histological examination and immunohistochemistry (IHC), as illustrated by the presented case.

Histologically, the morphological features of LMS are often similar to those of GIST, requiring differential diagnosis, and immunohistochemistry is necessary to distinguish between these tumors. LMS and GIST differ in the expression status of CD117, DOG-1, CD34, SMA, and desmin (13). The immunohistochemistry findings of the present case were as follows: SMA (+), desmin (−), H3K27Me3 (+), CDK4 (+), S-100 (−), CD117 (−), DOG1 (−), CD34 (−), STAT6 (−), MyoD1 (−), myogenin (−), PCK (−), and Ki-67 (+). The tumors can be graded using the Trojani (18) and French (18) systems for soft tissue sarcomas denoting their aggression.

Implications and actions

Surgery constitutes the chief therapeutic approach for straightforward small intestinal LMS or intussusception caused by LMS. Laparoscopic or open methods can be used depending on the surgeon’s expertise. In cases where intestinal ischemia, necrosis, or perforation is suspected, prompt surgical intervention is obligatory. There is a lack of data regarding the efficacy of radiotherapy for small bowel LMS. Moreover, small bowel LMS typically exhibits a low responsiveness to chemotherapy (19). When feasible, metastasectomy ought to be contemplated (20). In conclusion, the prognosis of small intestinal LMS remains very poor.

Given that small bowel LMS is mostly identified at an advanced stage, the prognosis for patients is unfavorable. Tumor dimensions and histological grading serve as autonomous prognostic determinants for disease-specific survival. The 5-year survival rate of patients with LMS spans from 10% to 48% (3).

Conclusions

Small intestinal LMS with intussusception is a rare condition, and its treatment depends on accurate diagnosis and primary surgical methods. Here, we described a case of LMS in an unusual location in the GI tract, causing jejuno-jejunal intussusception. Owing to its nonspecific symptoms, we identified the intussusception only on preoperative CT scans. Depending on the surgeon’s expertise, laparoscopic surgery is performed in emergency cases. The final diagnosis in this patient was made based on the intraoperative and histological examination findings.

Acknowledgments

The author expresses gratitude to the clinical team for their management of the patient, especially to the radiologists for their crucial role in image interpretation and diagnostic insights. The authors also express their gratitude to their institutions for their support and to the peer reviewers for their valuable feedback on the manuscripts.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-95/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-95/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-95/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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