Unusual case report of bifocal gastrointestinal stromal tumor in the first jejunal loop uncovered by severe hemorrhage

Abstract

Introduction and importance

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal tumors, constituting 1 % of gastrointestinal tumors. Jejunal GISTs are even rarer. This article describes a unique bifocal jejunal GIST case, revealed by an exceptionally rare instance of massive hemorrhage.

Case presentation

We present a 60-year-old female admitted for two days of melena. Despite being hemodynamically stable, severe anemia was noted. Initial endoscopy was normal, but further imaging and jejunoscopy revealed two jejunal GISTs. Surgical resection confirmed the diagnosis. Postoperative recovery was uneventful, with no bleeding recurrence after one year.

Clinical discussion

Gastrointestinal stromal tumors (GISTs) are rare but the most common mesenchymal neoplasms in the gastrointestinal tract, originating from interstitial cells of Cajal. Jejunal GISTs are particularly rare but can cause severe gastrointestinal bleeding, even if small. Diagnosis is challenging and often confirmed by angio-CT. Upper and lower endoscopies are initial steps in evaluating gastrointestinal bleeding, but jejunal GISTs may not be visible due to limited access. In such cases, jejunoscopy and video capsule endoscopy can be particularly valuable for direct visualization and assessment of the jejunum, as demonstrated in our patient, where jejunoscopy enabled precise diagnosis. Complete surgical resection is the recommended treatment, with CD-117 positivity confirming the diagnosis.

Conclusion

This case highlights the rare presentation of bifocal jejunal GISTs with severe hemorrhage and emphasizes the need for prompt surgical intervention and awareness of atypical cases.

Highlights

• •Rare presentation: demonstrates an unusual case of bifocal jejunal GIST presenting with severe gastrointestinal hemorrhage.
• •Diagnostic challenge: emphasizes the importance of including GISTs in differential diagnoses for gastrointestinal bleeding.
• •Successful management: highlights the effectiveness of prompt surgical intervention in managing atypical GIST presentations.

1. Introduction

Gastrointestinal stromal tumors (GIST) are rare neoplasms of the gastrointestinal tract of mesenchymal origin. They account for approximately 1 % of all gastrointestinal tumors [1]. Jejunal GISTs are even rarer, representing only 0.1 % to 3 % of all gastrointestinal tumors [2]. The diagnosis of GIST is based on the identification of c-KIT positive cells. In addition to surgery, treatment may include imatinib, a KIT kinase inhibitor. The treatment of advanced GISTs is rapidly evolving with the development of new molecular agents such as avapritinib and ripretinib. In this article, we describe an atypical case of bifocal GIST in the first jejunal loop, revealed by massive hemorrhage. This work has been reported in line with the SCARE 2023 criteria [3].

2. Case presentation

We present the case of a 60-year-old female patient with no significant medical history, who was admitted to the emergency department for gastrointestinal bleeding in the form of melena, which had been ongoing for two days. Upon admission, the patient was hemodynamically stable, with a heart rate of 90 beats per minute and a blood pressure of 120/80 mmHg. The neurological examination was normal.

The clinical examination, including a rectal examination, confirmed the presence of melena, while the abdominal examination revealed no abnormalities. Laboratory tests showed blood type A positive, hemoglobin at 6.9 g/dL, hematocrit at 19 %, platelet count at 300,000/mm³, urea at 5 mmol/L, and creatinine at 80 μmol/L, the rest of the laboratory tests were within normal limits.

Given the critical situation, the patient was admitted to the surgical intensive care unit. Fluid resuscitation was initiated, along with the transfusion of three units of packed red blood cells, which stabilized the hemoglobin at 9.3 g/dL.

An urgent esophagogastroduodenoscopy (EGD) was performed, but no abnormalities were detected. Due to the persistence of symptoms, an abdominal CT angiography was conducted, revealing two ring-enhancing intraluminal lesions in the proximal jejunum, measuring 22 mm and 18 mm, visualized during the arterial phase without corresponding wall thickening or fat infiltration (Fig. 1). The differential diagnoses considered were either a GIST of the first jejunal loop, a lymphoma, or an adenocarcinoma. To further clarify the diagnosis, a jejunoscopy was performed, revealing two submucosal lesions in the first jejunal loop; the first lesion measured 2–3 cm in its greatest dimension, covered by normal mucosa (Fig. 2), while the second, adjacent lesion measured 1–2 cm, covered by congested mucosa with central ulceration and hematin deposits (Fig. 3). Biopsies confirmed the diagnosis of a mesenchymal tumor (GIST).

Fig. 1.

Axial CT scan showing two ring-enhancing intraluminal lesions in the proximal jejunum, measuring 22 mm (A) and 18 mm (B).

Fig. 2.

Jejunoscopy showing a lesion measuring 2–3 cm in its greatest dimension, covered by normal mucosa.

Fig. 3.

Jejunoscopy showing a lesion measuring 1–2 cm, covered by congested mucosa with central ulceration and hematin deposits.

After appropriate anesthetic and surgical preparation, the patient underwent surgery via a midline laparotomy. Exploration of the abdominal cavity and complete examination of the small intestine identified two adjacent lesions in the first jejunal loop, measuring 3 cm and 2 cm, respectively, with no other abnormalities detected (Fig. 4). A resection of the first jejunal loop along with its mesentery was performed, followed by a side-to-side duodenojejunal anastomosis using 3/0 Vicryl sutures, and a Salem sump drain was placed (Fig. 5).

Fig. 4.

Intraoperative image showing the two lesions in the first jejunal loop (white arrows).

Fig. 5.

Specimen after opening, showing the two GIST lesions. The yellow arrow points to the 3 cm lesion with normal mucosa, and the white arrow points to the ulcerated lesion responsible for the bleeding. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Histopathological examination of the resected specimen, supported by immunohistochemical analysis, confirmed the diagnosis of bifocal gastrointestinal stromal tumor (GIST) of the jejunum (Fig. 6, Fig. 7), classified as benign according to the Miettinen classification, which considers tumor location, size, and mitotic index. Immunohistochemical studies revealed tumor cells strongly positive for Dog1 and CD117 (Fig. 8). Ki67: Approximately 1 % of the tumor cells showed moderate to intense nuclear staining. According to these findings, regular follow-up was decided upon without additional adjuvant treatment.

Fig. 6.

Fascicular mesenchymal proliferation occupying the jejunal submucosa and muscularis: HEx40.

Fig. 7.

Spindle cells with elongated nuclei showing moderate anisokaryosis: HEx100.

Fig. 8.

A. Strong membranous positivity for DOG-1. Immunohistochemistry ×40.

B. Strong membranous positivity for CD117. Immunohistochemistry ×40.

The postoperative course was uncomplicated, with complete cessation of gastrointestinal bleeding. The patient was discharged on the sixth postoperative day. Follow-up at one year postoperatively showed a favorable outcome, with no recurrence of bleeding.

3. Discussion

Although gastrointestinal stromal tumors (GISTs) are uncommon, they are the most prevalent mesenchymal neoplasms in the gastrointestinal tract [4,5]. Originating from interstitial cells of Cajal, GISTs can develop anywhere along the gastrointestinal tract, with a higher incidence in the stomach (55.6 %). Jejunal GISTs are rare, constituting less than 3 % of all gastrointestinal tumors [[5], [6], [7]].

About 80 to 90 % of GISTs are symptomatic at diagnosis, with symptoms depending on tumor size and location. The most frequent symptoms are gastrointestinal bleeding (30–40 %), abdominal pain (20–50 %), and obstruction (10–30 %). Massive bleeding with hemodynamic instability is uncommon but can be life-threatening, and the bleeding may be intra-luminal or, in rare cases, intra-abdominal [5,8].

Typically, bleeding results from the rupture of necrotic or ulcerated tumor areas. Intraluminal bleeding, which is more common, usually arises from compression, ischemia, or mucosal infiltration by a highly vascularized submucosal tumor. Spontaneous intra-abdominal bleeding is rare [7]. In the case presented, despite the small tumor size (2 cm), the patient experienced severe gastrointestinal bleeding with a hemoglobin level of 6.9 g/dL.

An essential aspect of managing gastrointestinal bleeding is recognizing GISTs (gastrointestinal stromal tumors) as a potential source. Diagnosing jejunal GISTs can be challenging due to their non-specific symptoms, limited endoscopic access, and often inconclusive CT scan findings [8]. Upper and lower endoscopies are typically the first steps in evaluating gastrointestinal bleeding. In this case, while the upper endoscopy was normal, a colonoscopy could not be performed due to emergency constraints related to bowel preparation.

Although GISTs are rare, they should be considered in the differential diagnosis of gastrointestinal hemorrhages, especially when conventional endoscopic evaluations fail to reveal abnormalities. In such instances, CT angiography becomes a crucial diagnostic tool. It is particularly valuable for localizing the bleeding, which is essential for guiding further investigations. Additionally, it provides critical information about the bleeding site and helps evaluate tumor characteristics and their relationship with surrounding structures [5].

Even though CT angiography may not always pinpoint the exact cause of the bleeding, it facilitates the use of complementary diagnostic techniques such as jejunoscopy and video capsule endoscopy. These additional methods are invaluable for direct visualization and assessment of the jejunum. As demonstrated in our patient, jejunoscopy enabled a precise diagnosis. For localized GISTs, the standard treatment is complete surgical resection (R0) to ensure no residual tumor remains and to avoid dissection of clinically negative lymph nodes. In this case, the emergency surgery effectively managed the gastrointestinal bleeding and achieved oncological radicality [4].

The definitive diagnosis of GIST is based on pathological examination and immunohistochemistry. Necrosis and mucosal ulceration are indicative of the gastrointestinal bleeding's origin. The presence of CD-117 is crucial for confirming a GIST diagnosis and distinguishing it from other mesenchymal tumors like leiomyomas and leiomyosarcomas [8]. Key prognostic factors for GISTs include the mitotic rate, tumor size, and location, with tumor rupture being an additional negative prognostic factor.

According to Miettinen's classification, which evaluates these criteria, the patient had a low-risk GIST. In such cases, regular follow up without additional treatment is generally recommended.

4. Conclusion

This case underscores the rare occurrence of bifocal jejunal GISTs presenting with severe hemorrhage. It highlights the necessity of considering GISTs in differential diagnoses for gastrointestinal bleeding and demonstrates the importance of prompt surgical intervention. The successful outcome further emphasizes the need for awareness of such atypical presentations to ensure timely and effective management.

Consent

Written informed consent was obtained from the patient for the publication of this case report and its accompanying images. A copy of the written consent is available for the Editor-in-Chief of this journal to review upon request.

Grant information

The author(s) declared that no grants were involved in supporting this work.

Provenance and peer review

Not commissioned, externally peer-reviewed.

Ethical approval

Ethical approval is not applicable/waived at our institution.

Funding

This research did not receive funding from any specific grant provided by public, commercial, or not-for-profit organizations.

Author contribution

Med dheker Touati and Ahmed BOUZID contributed to manuscript writing andediting, and data collection;

Mohamed Raouf ben othmane and Anis Belhadj contributed to data analysis;

Ahmed Saidani and Faouzi Chebbi contributed to conceptualization and supervision;

All authors have read and approved the final manuscript.

Guarantor

Dr. Med Dheker TOUATI.

Research registration number

N/A.

Declaration of generative AI and AI-assisted technologies in the writing process

AI tools were not used for the elaboration of the manuscript.

Conflict of interest statement

No conflicts of interest.

Data availability

The data supporting this case report are available upon request from the corresponding author.