A rare presentation of gastrointestinal stromal tumor (GIST) with melena and anemia: a case report

Introduction

Gastrointestinal stromal tumors (GISTs) are rare primary gastrointestinal neoplasms, representing approximately 1% of all primary gastrointestinal tumors (1). The most common location is the stomach (55%), followed by the small intestine (31%) and colorectum (10%) (2). The majority of GISTs are sporadic, with nearly 5% of patients associated with genetic syndromes such as primary familial GIST, neurofibromatosis type 1 (NF1), Carney-Stratakis syndrome and Carney triad (3). GISTs are often asymptomatic and diagnosed incidentally during imaging, endoscopy, or surgery. However, when symptomatic, they may present with non-specific symptoms including anemia, nausea, vomiting, abdominal pain, loss of appetite, weight loss, and even a palpable abdominal mass (4,5). We present this article in accordance with the CARE reporting checklist (available at https://gist.amegroups.com/article/view/10.21037/gist-24-5/rc).

Case presentation

A 25-year-old female, American Society of Anesthesiologists (ASA) I, presented with a four-day history of melena with dizziness and palpitations. She had no significant past medical, surgical, or drug history. There was a family history of NF1. On examination, she exhibited signs suggestive of impending heart failure, including tachycardia (120 beats/min), hypotension (90/60 mmHg), bilateral ankle edema and café-au-lait macules on the trunk. Her hemoglobin was 3.4 g/dL. The patient was resuscitated with 4 units of packed red blood cells transfusion followed by 1 liter of normal saline. Further evaluation to determine the cause of anemia was performed. Upper and lower gastrointestinal endoscopies showed no abnormalities. An ultrasound scan of the abdomen and pelvis was unremarkable. Computed tomography (CT) mesenteric angiogram was performed, giving the impression that an avidly enhancing lesion with a long segment of small bowel intussusception, suggestive of a GIST rather than a carcinoid tumor arising from the jejunal loops and leading to the intussusception (Figure 1). Diagnostic laparoscopy revealed a highly vascular tumor arising from the proximal jejunum, adherent to the sigmoid colon and blood to the tumor was from a vascular pedicle arising from the internal iliac artery (Figure 2). Additionally, 2 cm size tumor deposits were found on the anti-mesenteric border of jejunum, 10 cm distal to the primary lesion (Figure 3) with a suspicious lymph node in the jejunal mesentery.

Figure 1 Pre-operative CT scan. Axial view arterial phase (A), coronal view arterial phase (B), and saggital view arterial phase (C) showing a solid mass with heterogenous enhancement in the left iliac fossa measuring approximately 37 mm × 66 mm × 60 mm (AP × CC × Tr) with long segment intussusception of small bowel could represent a GIST arising from the jejunal loops. Arrows show the tumor. AP, antero-posterior; CC, cranio-caudal; CT, computed tomography; GIST, gastrointestinal stromal tumor; Tr, transverse.

Figure 2 Highly vascular tumor arising from the proximal jejunum adherent to the sigmoid colon.

Figure 3 Another GIST from the jejunum distal to the primary tumor. GIST, gastrointestinal stromal tumor.

The primary tumor was mobilized from the sigmoid colon laparoscopically. The procedure was then converted to a midline laparotomy. A jejunal resection with end-to-end jejuno-jejunal anastomosis was performed, followed by a wedge resection of the jejunal anti-mesenteric tumor. She had an uneventful postoperative recovery without any complications.

Histopathological examination showed that the primary tumor, measuring 75 mm × 55 mm × 44 mm, was located in the mesentery attached to the anti-mesenteric border of the small bowel. Microscopic findings favored a GIST involving the muscularis propria and subserosal layers. There was no mucosal ulceration and no lymphovascular or perineural invasion. Mitoses were noted at 2/5 mm². The resection margins were clear (distant from the tumor). The tumor was staged as pT3N0M0 (Stage IB).

The resected nodule, as suspected, was also a GIST, with involvement of the mucosa, muscularis propria and subserosal layers. No lymphovascular or perineural invasion was noted in this nodule. The resected lymph node was free of tumor deposits.

Immunohistochemistry revealed diffuse strong positivity for CD 117 in tumor cells, and S100 was negative. Surgical margins were microscopically negative for residual tumor cells. The patient received targeted therapy with the tyrosine kinase inhibitors (TKIs) imatinib for 1 year. Surveillance contrast-enhanced CT of the chest, abdomen, and pelvis performed at 6 months and 1 year postoperatively, did not reveal any recurrence of the tumor.

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. Informed written consent was obtained from the patient for 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

GISTs are the most common mesenchymal tumors of the digestive tract and can arise anywhere in the gastrointestinal tract (6). Patients with GISTs are often asymptomatic but can present with a wide range of symptoms, depending on the location and the size of the tumor (7). In this case, the GIST presented as jejuno-jeunal intussusception and melena. Melena is a common life-threatening presentation that requires blood transfusion, surgical intervention, and intensive monitoring (8,9). Melena is associated with upper gastrointestinal bleeding or small intestinal bleeding. Jejunal GISTs are often in locations inaccessible by conventional endoscopy. For patients with a high index of suspicion, radiological options include CT, CT angiography (CTA) and magnetic resonance imaging (MRI). MRI is a reasonable alternative for patients with rectal primary tumors or those with contraindications to contrast media. Upper gastrointestinal endoscopy (UGIE) with endoscopic ultrasound is the preferred diagnosis procedure for further characterization of lesions in the upper gastrointestinal tract (10,11). CT scans are useful for differentiating GISTs from carcinoid tumors. GISTs are typically large, well-defined masses with smooth surfaces, whereas carcinoid tumors often appear as small, multifocal or solitary masses, sometimes with central necrosis. The treatment for GISTs without metastasis is surgical resection and adjuvant therapy with TKIs.

Conclusions

GISTs should be considered in the differential diagnosis for patients presenting with melena, lower gastrointestinal bleeding, or intussusception. Massive gastrointestinal bleeding from GISTs is managed by initial resuscitation with intensive monitoring but may need emergency resection of the segments of the bowel or radiological embolization to control massive bleeding after the confirmation of diagnosis. Diagnostic investigations of choice depend on tumor location and the treatment typically consists of surgical resection of GISTs followed by targeted therapy with TKIs.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://gist.amegroups.com/article/view/10.21037/gist-24-5/rc

Peer Review File: Available at https://gist.amegroups.com/article/view/10.21037/gist-24-5/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://gist.amegroups.com/article/view/10.21037/gist-24-5/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. Informed written consent was obtained from the patient for 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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