ArticleBMC gastroenterology2026
Desmoid fibromatosis of the liver: a case report and rare entity with diagnostic resolution by histopathology and immunohistochemistry.
Article in BMC gastroenterology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundDesmoid tumors (aggressive fibromatosis) are rare, locally invasive fibroblastic neoplasms with no metastatic potential but a propensity for local recurrence. Primary involvement of the liver is exceptionally uncommon and poses significant diagnostic challenges due to overlapping radiologic features with primary hepatic malignancies and other spindle cell neoplasms. Large mesenchymal tumors may rarely be associated with nonislet cell tumor hypoglycemia. CASE PRESENTATION: A 71-year-old woman presented with a five-year history of progressive abdominal swelling and recurrent hypoglycemic episodes. Examination revealed a large, firm, non-tender abdominal mass measuring 30.0 × 28.0 cm. Laboratory investigations, including liver function tests and tumor markers (alpha-fetoprotein, CA 19 - 9, and CA-125), were within normal limits, except for correctable hypokalemia. Cross-sectional imaging demonstrated a large heterogeneous mass arising from segments II and III of the left hepatic lobe with progressive enhancement, favoring a benign or low-grade mesenchymal neoplasm. Differential diagnoses included solitary fibrous tumor, inflammatory myofibroblastic tumor, and desmoid fibromatosis. The patient underwent left lateral hepatectomy. Histopathology revealed a spindle cell proliferation composed of uniform fibroblastic cells arranged in long fascicles within a collagenous stroma, without significant atypia or increased mitotic activity. Immunohistochemistry showed strong nuclear positivity for beta-catenin, while smooth muscle actin (SMA) and CD31 were negative in tumor cells; S100 showed weak positivity. These findings confirmed the diagnosis of desmoid tumor. The postoperative course was uneventful, with resolution of hypoglycemic episodes.
conclusionPrimary hepatic desmoid tumor is an exceptionally rare entity that may clinically and radiologically mimic malignant hepatic neoplasms. Strong nuclear beta-catenin expression is critical for definitive diagnosis. This case underscores the importance of comprehensive histopathological and immunohistochemical evaluation in atypical hepatic masses and highlights the potential association with paraneoplastic hypoglycemia.
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