Desmoid Tumor of the Porta Hepatis: A Rare Location With Unusual Clinical Presentation

Background: Desmoid tumor is a locally aggressive fibroblastic/myofibroblastic neoplasm frequently arising in deep soft tissues. Although it can be well circumscribed, a desmoid tumor generally infiltrates surrounding tissues and tends to recur locally without metastasizing. While commonly arising in the extremities and abdominal wall, primary hepatic involvement is exceedingly uncommon.

Case report: We report the case of a 20-year-old woman presenting with progressive jaundice, pruritus, weight loss, and abdominal pain. Imaging revealed a 3 × 3 cm hepatic hilar mass with bile duct dilation, initially suggestive of cholangiocarcinoma. Histopathological examination following a tru-cut biopsy demonstrated features consistent with desmoid-type fibromatosis, confirmed by nuclear β-catenin positivity. Due to clinical deterioration, the patient underwent a left hemihepatectomy. The postoperative course was uneventful. Adjuvant tamoxifen therapy was administered, and follow-up imaging showed no recurrence. Despite the hormonal changes of a subsequent pregnancy, no disease progression was observed.

Conclusion: This report highlights an extremely rare presentation of desmoid tumor in the hepatic hilum, mimicking malignancy. It underscores the importance of histopathological confirmation, multidisciplinary management, and individualized follow-up strategies, especially in women of reproductive age.

A 27-year-old woman was admitted due to recurrent palpitation and four episodes of syncope. Electrocardiogram during palpitation showed sustained mono-morphic ventricular tachycardia (see Supplementary data online, Data S1). Physical examination revealed a subtle systolic murmur. Transthoracic echocardiography demonstrated a large akinetic heterogeneous mass (4.5 × 5.3 cm) in the interventricular septum (Panel A), two-thirds of which was occupied by the lesion illustrated by contrast-enhance computed tomography (CT) (Panel B). Magnetic resonance imaging showed non-uniform enhancement of the mass (Panel C), corresponding to areas of high cellularity and hypocellular collagen. Positron emission tomography/CT showed only mild fluorodeoxyglucose uptake (SUVmax 4.0) (Panel D), suggesting low-grade malignancy.

At surgery, a white firm, non-encapsulated mass was visualized in the interventricular septum (Panels E and F; Supplementary data online, Data S2). All grossly visible tumour tissue was resected, and the ventricular septum was repaired and reinforced with a Dacron patch, leaving no residual shunt. Histologic examination showed proliferation of fibroblasts and spindle cell infiltration (Panel G). Nuclear β-catenin staining was positive (Panel H), consistent with desmoid tumour. Masson’s trichrome stain exhibited interdigitating islands of entrapped myocardium scattered between the fibrous tissue (Panel I), which was the potential substrate for re-entrant tachyarrhythmias. The patient was discharged uneventfully. Neither episodic syncope nor tumour recurred during the 26-month follow-up (see Supplementary data online, Data S3 and S4).

Introduction: Desmoid tumors (DTs) are rare, locally aggressive fibroblastic neoplasms that, despite lacking metastatic potential, may cause significant morbidity due to infiltrative growth and local recurrence. Pediatric cases involving major peripheral nerves are exceptional and present unique diagnostic and therapeutic challenges.

Research question: This study aimed to characterize pediatric DTs with peripheral nerve involvement and to evaluate outcomes of nerve-sparing surgical strategies focused on oncologic control and functional preservation.

Material and methods: A retrospective case series of seven pediatric patients (6-19 years) with histologically confirmed DTs involving major peripheral nerves were analyzed. All patients underwent microsurgical resection at the Division of Neurosurgery, Gaffrée and Guinle University Hospital (UNIRIO) between 2010 and 2024. Clinical, radiological, and surgical variables were assessed, including motor function, pain (VAS), margin status, recurrence, and multimodal treatment strategies.

Results: Tumors affected the lower limbs: fibular (n = 3), sciatic (n = 3), and tibial nerve (n = 1). Mean tumor size was 15.3 ± 4.1 cm. R0 resection was achieved in four patients (57.1%), R1 in one (14.3%) and R2 in two (28.6%) due to nerve encasement. Motor function was fully preserved postoperatively (M5), and pain improved markedly (median VAS 8 to 0-2). One patient (14.3%) developed local recurrence and required repeat surgical excision.

Discussion and conclusion: Pediatric DTs involving peripheral nerves are rare, typically sporadic, and require individualized management. Nerve-sparing surgery achieved local control and pain relief without functional compromise. Prognoses depend more on tumor biology and anatomical constraints than to margin status, underscoring the value of function-preserving and long-term multidisciplinary follow-up.

Desmoid tumors (DTs) are rare, fibroblastic neoplasms characterized by locally aggressive behavior, unpredictable clinical trajectories, and a substantial impact on patient quality of life despite minimal metastatic potential. Although the underlying biology of DTs remains incompletely defined, associations with prior trauma, hormonal exposure, and aberrant Wnt/β-catenin signaling-including somatic CTNNB1 mutations and germline APC alterations seen in Familial Adenomatous Polyposis-have informed both historical and contemporary therapeutic approaches. Management strategies have evolved from surgery-dominant paradigms toward individualized, multimodal treatment algorithms emphasizing systemic medical therapy, as reflected in current NCCN and Desmoid Tumor Working Group recommendations. This review focuses on the medical management of DTs, tracing the evolution from earlier noncytotoxic therapies, including antiestrogen agents such as tamoxifen, to modern systemic options supported by prospective and randomized data. We summarize available evidence for four principal classes of medical therapy: nonsteroidal anti-inflammatory drugs, cytotoxic chemotherapy (with particular emphasis on anthracycline-based regimens), tyrosine kinase inhibitors-most notably sorafenib-and the emerging class of γ-secretase inhibitors. Recent phase III data supporting the efficacy of nirogacestat highlight a shift toward mechanism-based, targeted treatment with demonstrable benefits in progression-free survival, symptom control, and patient-reported outcomes. Collectively, these advances underscore a maturing therapeutic landscape in which systemic therapy plays a central role in disease control, symptom palliation, and preservation of function for patients with advanced desmoid tumors.

Background: Aggressive fibromatosis (AF), also known as desmoid-type fibromatosis, is a rare, locally infiltrative soft-tissue tumor with no metastatic potential but a significant risk of local recurrence. Intra-abdominal AF may encase adjacent organs and vascular structures, occasionally leading to organ dysfunction. Ureteral involvement resulting in hydronephrosis is uncommon and presents complex diagnostic and therapeutic challenges, particularly when reconstruction of the urinary tract is required.

Case summary: We report a 28-year-old male patient in whom right-sided hydronephrosis was incidentally detected during routine examination. Imaging revealed a 6 cm pelvic mass encasing the distal ureter and displacing the iliac vessels. Biopsy suggested a low-grade spindle-cell tumor. Due to progressive ureteral obstruction, surgical intervention was indicated. The patient underwent robotic-assisted laparoscopic tumor resection with segmental ileal resection and intracorporeal anastomosis. Distal ureteral involvement necessitated resection and reconstruction using a 7-cm Boari bladder flap ureteroneocystostomy over a double-J stent. Histopathological examination confirmed aggressive fibromatosis. Postoperative recovery was uneventful. At three-month follow-up, imaging demonstrated resolution of hydronephrosis and no evidence of recurrence.

Conclusions: Intra-abdominal aggressive fibromatosis with ureteral encasement is rare and may require simultaneous oncologic resection and complex urinary tract reconstruction. A single-stage robotic-assisted approach can facilitate precise tumor excision and tension-free ureteral reconstruction while preserving renal function. Individualized surgical planning is essential in managing organ-compromising desmoid tumors.

Background: Desmoid tumors (DT) are rare, locally aggressive neoplasms characterized by an unpredictable clinical course. Although anatomical localization has been associated with tumor behavior, its relationship with systemic inflammatory response remains insufficiently explored. This study aimed to evaluate the impact of tumor localization on systemic inflammatory markers and to investigate CD47 expression in DT. Methods: This retrospective cohort study included 127 patients diagnosed with DT between 2010 and 2023. Demographic, clinicopathological, and laboratory data were collected. Systemic inflammatory indices, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), prognostic nutritional index (PNI), HALP score, and pan-immune-inflammation value (PIV), were calculated. Tumor localization was categorized as trunk, extremity, or head and neck. CD47 expression was evaluated by immunohistochemistry. Results: Tumors were most frequently located in the trunk (50.4%), followed by extremities (40.9%) and head and neck region (8.7%). Significant differences in inflammatory markers were observed according to tumor localization. The head and neck group demonstrated lower neutrophil counts (p = 0.020), NLR (p = 0.009), PLR (p < 0.001), and PIV (p = 0.003), while showing higher PNI (p = 0.043) and HALP scores (p = 0.001) compared to trunk-localized tumors. Additionally, smaller tumors (<49 mm) were associated with lower NLR (p = 0.041) and neutrophil counts (p = 0.015). No detectable CD47 expression was observed in any tumor samples. Conclusions: Anatomical localization is closely associated with distinct systemic inflammatory profiles in patients with DT. These findings suggest that tumor location may influence host immune-inflammatory interactions and contribute to the biological heterogeneity of DT. The absence of CD47 expression indicates that alternative immune-related mechanisms may play a role in DT biology. Easily accessible inflammatory markers may provide valuable insights for risk stratification in clinical practice.