Progressive abdominal pain with acute exacerbation due to retroperitoneal follicular dendritic cell sarcoma: a case report with targeted genomic sequencing analysis.

ABSTRACT

BACKGROUND: Follicular dendritic cell sarcoma (FDCS) is a rare malignancy that arises from follicular dendritic cells and typically presents as a slow-growing painless mass without specific symptoms. Here we report an unusual case of a 55-year-old female with retroperitoneal FDCS who presented with progressive abdominal pain onset and acute exacerbation. METHODS: On CTA, a middle-upper abdominal mass (58*40 mm) was shown with multiple enlarged lymph nodes. After en-bloc resection of the tumor, the patient recovered completely from her symptoms and was discharged without complication. One month later, the patient returned for follow-up and the relevant tests were completed. RESULTS: In this case, CA724 elevated significantly and seemed to be associated with tumor progression. The results of positron emission tomography/computed tomography (PET/CT) and radiological examinations, including magnetic resonance imaging (MRI) and computed tomography angiography (CTA), were discussed to improve our understanding of diagnostic tools on FDCS. Targeted genomic sequencing analysis revealed three novel gene mutations, EPHA3 (nonsense mutation), DDR2 (SNV), and BIRC3 (InDel). CONCLUSION: We reported an unusual case of retroperitoneal FDCS with acute exacerbated abdominal pain. The interpretations of CA724, PET/CT, as well as imaging results deserve further investigation in FDCS. Genomic sequencing revealed three novel gene mutations in FDCS, including EPHA3 (nonsense mutation), DDR2 (SNV), and BIRC3 (InDel).