Aggressive mucinous jejunal adenocarcinoma in the setting of chronic immune-mediated disease: diagnostic delay in a patient with celiac disease and sarcoidosis: a case report
Iyad Al Jada, Yara Atawneh, Areen Sulaiman, Aseel Al-Terawy, Mo’Tassem Alama, Ammar HassounehIntroduction:
Small bowel adenocarcinoma (SBA) is a rare gastrointestinal malignancy accounting for less than 5% of all gastrointestinal cancers. Long-standing celiac disease is a recognized risk factor for SBA due to chronic immune-mediated intestinal inflammation and persistent mucosal injury. Mucinous adenocarcinoma represents an uncommon and often aggressive histological subtype that frequently presents at an advanced stage.
Case presentation:
We report a 43-year-old woman with biopsy-proven celiac disease since childhood and systemic sarcoidosis, diagnosed in 2023, who presented with progressive abdominal pain, postprandial vomiting, and significant unintentional weight loss of 8 kg over the preceding 1.5 months. Her condition deteriorated despite supportive treatment and progressed to acute small-bowel obstruction requiring emergency exploratory laparotomy. Intraoperative findings revealed a circumferential obstructing jejunal mass with extensive serosal and omental involvement. Segmental jejunal resection was performed. Histopathological examination demonstrated moderately differentiated mucinous adenocarcinoma with transmural invasion, lymphovascular and perineural invasion, and extensive nodal involvement. Omental and liver biopsies confirmed metastatic disease, and the final pathological stage was pT4N2M1 (Stage IV).
Discussion:
SBA may present with non-specific gastrointestinal symptoms that overlap with manifestations of chronic inflammatory diseases. In this case, the coexistence of long-standing celiac disease and sarcoidosis created a complex clinical context; however, no previous hospital encounters for the presenting symptoms were documented, and a definitive diagnostic delay due to repeated misattribution could not be established. The coexistence of these chronic inflammatory conditions with metastatic mucinous jejunal adenocarcinoma presenting as complete intestinal obstruction highlights the importance of considering malignancy when progressive gastrointestinal symptoms and alarm features develop.
Conclusion:
This case highlights the importance of maintaining a high index of suspicion for small-bowel malignancy in patients with long-standing celiac disease who develop persistent or progressive gastrointestinal symptoms, particularly unexplained weight loss, recurrent vomiting, or intestinal obstruction. Early diagnostic investigation and reassessment of atypical clinical progression may facilitate the recognition of aggressive small-bowel malignancy.