Pediatric Gastric Adenocarcinoma in the Setting of Celiac Disease: A Rare and Insightful Case Report

ABSTRACT

Gastric adenocarcinoma is exceptionally rare in children, often presenting with nonspecific gastrointestinal (GI) symptoms. This case highlights the importance of considering malignancy in pediatric patients with celiac disease and poor dietary adherence, as complications like gastric adenocarcinoma can arise. Early recognition and multidisciplinary management are crucial for improving outcomes in such rare and aggressive cases.

Summary.

• Gastric adenocarcinoma is extremely rare in children, often manifesting with vague gastrointestinal symptoms.

• This case underscores the need to consider malignancy in pediatric celiac disease, particularly with poor dietary adherence.

• Awareness, early recognition, and multidisciplinary management are essential for improving outcomes in such rare, aggressive presentations.

Abbreviations

CD

celiac disease

CT

computed tomography

GI

gastrointestinal

MRI

magnetic resonance imaging

TTG

tissue transglutaminase

1. Introduction

Gastric adenocarcinoma is exceedingly rare in pediatric populations, accounting for only 0.05% of all childhood cancers [1]. Our understanding of this malignancy is largely derived from case reports and extrapolated data from adult studies [2]. While nonspecific GI symptoms are the most common presentation [1] unusual manifestations such as ascites [3] and obstruction [4] have also been documented.

Celiac disease (CD) is an immune‐mediated genetic disorder with an estimated global prevalence of 1% in children [5]. It typically manifests after gluten exposure [6]. Complications of celiac disease, which are more common in late‐onset cases and among individuals with poor dietary adherence, include hyposplenism, refractory celiac disease, intestinal lymphoma, small bowel adenocarcinoma, and ulcerative jejunoileitis [5, 7].

In this report, we present a pediatric case of CD in a patient with inadequate dietary compliance. The patient experienced recurrent episodes of diarrhea, abdominal pain, and anemia, ultimately leading to a diagnosis of gastric adenocarcinoma.

2. Case History/Examination

This is a 16‐year‐old female patient with a long‐standing history of celiac disease, diagnosed at the age of 9 years, which was preceded by symptoms of poor growth, anemia, abdominal pain, and diarrhea. Initial laboratory tests showed an elevated tissue transglutaminase (TTG) IgA level of 200 (normal: < 20). An upper GI endoscopy was performed, and jejunal biopsy confirmed celiac disease, showing Marsh–Oberhuber classification stage 3b (subtotal villous atrophy with crypt hyperplasia and increased intraepithelial lymphocytes). The patient was started on a gluten‐free diet and advised to follow up regularly.

On examination, the patient appeared to be a young girl with notable pallor. Her weight was 25 kg, and her height was 120 cm, both of which were significantly below the expected percentiles for her age. She reported persistent abdominal pain, although no tenderness was noted on palpation, and there was no organomegaly or signs of acute abdominal distress. Clubbing was observed.

The patient has a family history of consanguinity, with both parents being related. Her brother, also diagnosed with celiac disease, tragically passed away at age 12 due to complications from liver cirrhosis. Her 15‐year‐old sister is healthy, and her paternal grandfather had a history of lymphoma.

3. Differential Diagnosis, Investigations, and Treatment

However, despite medical recommendations, the patient had poor cooperation and inconsistent follow‐up. Over the years, her growth remained stunted, with a significantly low weight and height, and her TTG IgA levels were not adequately controlled. She also experienced multiple hospital admissions due to recurrent episodes of anemia, diarrhea, and abdominal pain. She had a constantly positive Coombs test and anemia and was treated with prednisolone with suspicion of an autoimmune process. Due to the persistence of these symptoms and failure of dietary adherence, an additional endoscopic evaluation was performed, which revealed multiple polypoid lesions in the stomach (Figure 1). Biopsy results from these lesions confirmed the presence of gastric adenocarcinoma (Figure 2).

FIGURE 1.

Stomach polyp. (A) Multiple gastric polyps in the prepyloric region of the stomach. (B) Hot snare polypectomy of the gastric polyps. (C and D) Stomach polyp (after polypectomy) which is more than 1 cm in size.

FIGURE 2.

Microscopic secon showing progression of adenocarcinoma from an adenoma with villous characteriscs (Hematoxylin and Eosin stain, ×40 magnification).

The patient underwent several investigations to assess for metastasis, including a colonoscopy, chest Computed Tomography (CT) scan, abdominal CT scan, and Magnetic Resonance Imaging (MRI). These studies were largely unremarkable, except for the abdominal CT and MRI, which revealed thickening of the stomach wall, further supporting the suspicion of a malignant process (Figure 3). Given the findings of gastric adenocarcinoma and the lack of evidence for metastatic disease, a multidisciplinary approach involving pediatric and adult gastroenterologists led to the decision to proceed with a total gastrectomy.

FIGURE 3.

(A) Axial, (B and C) Coronal MRI views. Abdominal MRI with and without gadolinium shows a 23 × 20 mm papillary projecting mass arising from the pylorus and distal stomach body, demonstrating post‐contrast enhancement suggestive of malignancy.

4. Conclusion and Results

A total gastrectomy was performed, and the patient's postoperative course was uncomplicated. The tumor was a well‐differentiated polypoid type, which invaded the lamina propria. Both the proximal and distal margins were clear of tumor. No lymph node involvement was observed, and the staging was classified as 1a. The patient did not receive chemotherapy or radiotherapy following the surgery. As of seven months post‐operation, she remains stable, with continued follow‐up planned to monitor for any potential long‐term complications.

5. Discussion

We present a rare complication of celiac disease in a pediatric patient. As anticipated, the patient had not been strictly adhering to a gluten‐free diet. Following recurrent episodes of hospitalization due to abdominal pain and diarrhea, gastric adenocarcinoma was identified during endoscopy. Despite the challenges faced by the medical team, the patient ultimately underwent a total gastrectomy. No chemotherapy or radiotherapy was administered, and the outcome has been successful to date.

Studies in the Swedish cohort and meta‐analyses have explored the association between CD and GI cancers [8, 9]. While CD is linked to increased risks of hepatobiliary and pancreatic cancers, the evidence for gastric cancer remains inconclusive. In the Swedish cohort, the hazard ratio (HR) for gastric cancer was 1.21 (95% CI, 0.91–1.61), indicating no significant association. Similarly, a meta‐analysis by Han et al. found no significant link between CD and gastric cancer (OR = 1.53; 95% CI, 0.96–2.44). These findings suggest that while CD may elevate risks for certain GI cancers, its role in gastric cancer development remains unclear [8, 9, 10].

In a large study of CD patients, out of 1968 individuals, 3 were diagnosed with gastric cancer, with a mean age of CD diagnosis being 53.5 ± 15.4 years [11], supporting the idea that the longer the delay in diagnosis, the greater the risk of developing cancer.

Managing gastric adenocarcinoma in pediatric patients is particularly challenging due to its rarity, aggressive behavior, and nonspecific symptoms, which often result in delayed diagnosis and unfavorable outcomes. The primary treatment strategy centers on radical surgery, frequently combined with perioperative chemotherapy, to enhance prognosis. Total gastrectomy, a radical surgical procedure, is considered the cornerstone of treatment for pediatric gastric adenocarcinoma. Early detection and localized disease are critical factors for achieving potentially curative results [12, 13]. For instance, a 12‐year‐old girl underwent laparoscopy‐assisted radical total gastrectomy, which led to a positive outcome during follow‐up [12]. Perioperative chemotherapy is commonly used in conjunction with surgery to improve survival rates. While it has demonstrated some success in enhancing prognosis, the overall survival benefit varies across cases [12, 14]. In another case, a 16‐year‐old female was successfully treated with a combination of surgery and chemoradiation using the volumetric modulated arc technique. This highlights the potential value of advanced radiotherapy methods in optimizing treatment strategies [13].

In conclusion, this case highlights the critical importance of maintaining a high index of suspicion for rare malignancies, such as gastric adenocarcinoma, in pediatric patients with celiac disease, particularly those with poor dietary adherence. The nonspecific presentation and aggressive nature of this malignancy underscore the need for early recognition, timely intervention, and a multidisciplinary approach to management. Clinicians should remain vigilant for atypical complications in children with chronic GI conditions, as early diagnosis and comprehensive treatment strategies are essential for improving outcomes in these rare and challenging cases.

Author Contributions

Mahsa Rouhafshari: conceptualization, data curation, writing – original draft, writing – review and editing. Mohammad Hadi Imanieh: conceptualization, writing – original draft, writing – review and editing. Mahdi Khazaei: data curation, writing – original draft, writing – review and editing. Fateme Ziyaee: data curation, writing – original draft, writing – review and editing. Hamide Barzegar: conceptualization, supervision, writing – original draft, writing – review and editing.

Ethics Statement

The study protocol confirmed to the ethical guidelines of the 1975 Helsinki Declaration. The ethics committee of Shiraz University of Medical Sciences approved the publication of this case (IR.SUMS.REC.1404.238).

Consent

We have written informed consent obtained from the parents of the patient for the publication of this case report.

Conflicts of Interest

The authors declare no conflicts of interest.

Rouhafshari M., Imanieh M. H., Khazaei M., Ziyaee F., and Barzegar H., “Pediatric Gastric Adenocarcinoma in the Setting of Celiac Disease: A Rare and Insightful Case Report,” Clinical Case Reports 13, no. 10 (2025): e71027, 10.1002/ccr3.71027.

Data Availability Statement

All data generated or analyzed during this study is included in this published article.