Solitary fibrous tumor: A case report of this multifaceted tumor

Background: Solitary fibrous tumor (SFT) is a remarkably uncommon mesenchymal tumor. STAT6 level and a combination of clinical, pathological, and molecular features are required to arrive at a proper diagnosis.

Case summary: In this report, we present an intriguing case involving a 43-year-old woman who initially exhibited symptoms of a bleeding retroperitoneal tumor, initially resembling a gastrointestinal stromal tumor, but later confirmed as an SFT. However, a year later, what was initially believed to be a recurrence of her SFT was instead identified as a desmoid tumor.

Conclusion: Distinguishing SFT from other tumors was pivotal. Correcting misdiagnoses of tumor type initially and of recurrence later was necessary for appropriate treatment of the correct desmoid type.

Background: Sporadic desmoid fibromatosis (DF) is a rare locally aggressive tumor characterized by mutation in exon 3 of CTNNB1 (T41A, S45F, and S45P). Standard of care is active surveillance (AS), but 30% require treatment. DF clinical course is unpredictable and identification of prognostic markers is needed to tailor strategy. In this prospective study, we investigated the consistency between mutation detected in tumor biopsies with that detected in plasma by digital droplet PCR (ddPCR) and the association between circulating tumor DNA (ctDNA) abundancy with clinical outcome.

Patients and methods: A total of 56 patients and 10 healthy donors were included. CTNNB1 mutation status of DF biopsies was determined by Sanger and in case of WT CTNNB1 with NGS. In matched plasma samples at enrollment and during AS at specific timepoints, we evaluated cfDNA quantity and ctDNA.

Results: ctDNA levels were measured in 46 patients with CTNNB1 mutation. Detection rate for T41A, S45F and S45P was 68%, 42% and 100%, respectively. S45P variant has been detected in all patients with S45P mutation. Longitudinal assessment of ctDNA during AS in nine patients (four with regression and five with progression as first event according to RECIST) showed a concordance between the event and ctDNA level change in six out of nine patients tested (4/5 with progression and 2/4 with regression).

Conclusions: Results of ctDNA analysis support its potential clinical implementation as diagnostic tool in specific clinical scenarios where biopsy can be challenging. A prospective clinical trial needs to be performed to evaluate the potential role of ctDNA as predictive biomarker.

Background: Desmoid tumors, also known as aggressive fibromatosis, are rare benign tumors originating from the musculoaponeurotic stroma. While desmoid tumors in the head and neck region are documented, those located in the nasopharynx are exceptionally rare.

Case presentation: A 26-year-old male presented with a three-year history of left nasal obstruction. A CT scan revealed a mass measuring 5.9 × 4.6 × 3.2 cm occupying the left nasal cavity and nasopharynx, with invasion into the maxillary sinus wall. A biopsy confirmed the presence of a nasopharyngeal desmoid tumor. The patient subsequently underwent endoscopic resection followed by radiotherapy.

Discussion: Nasopharyngeal desmoid tumors pose a significant diagnostic challenge due to their rarity. The use of MRI and CT scans is crucial for accurate diagnosis, despite their histologically benign nature. It is important to note that these tumors can mimic malignant lesions, emphasizing the necessity for a thorough and meticulous evaluation during the diagnostic process.

Conclusion: This case underscores the diagnostic and therapeutic complexities associated with nasopharyngeal desmoid tumors. Increased reporting and documentation of such cases are essential to enhance the understanding and management of this rare condition.

Desmoid fibromatosis (DF) is an extremely rare tumor, which is locally aggressive in nature with no metastatic potential. Presenting symptoms depend on tumor size, site and progression speed. Most commonly occur sporadically, or associated with familial adenomatous polyposis (F.A.P.). Factors may contribute to develop DF are trauma or surgical incision. In this article, we report a 41-years old male, which had partial upper pole nephrectomy, and developed lower pole desmoid fibrosis proven by histopathology. To our best knowledge, there are no article discussed the 2 different tumors occur in the same kidney at 2 different locations.

Purpose: This retrospective study aimed to investigate the radiological features of pancreatic desmoid-type fibromatosis (PDF) and systematically review the previous publications and two new cases.

Methods: We searched PubMed, Cochrane Library, and Web of Science Core Collection and included 31 patients with pathologically proven PDFs with analyzable preoperative computed tomography (CT) and magnetic resonance imaging, including two patients from our institution and 29 patients from 28 publications. Two board-certified radiologists reviewed all images.

Results: The median age of the patients was 39 years, with a male dominance observed (male, 54.8% vs. female, 45.2%). Abdominal pain was the most frequent symptom, occurring in 58.1% of cases. Surgical resection was performed in all cases of PDFs, resulting in a recurrence rate of 8.3% (2/24). The tumors were most commonly located in the pancreatic tail (23/31, 74.2%). In terms of morphology, a “solid” shape was most prevalent (14/31, 45.2%), followed by a “solid and cystic” shape (9/31, 29.0%) and a “cystic” shape (8/31, 25.8%). Characteristic radiological features included heterogeneous enhancement of the solid portion of the tumors on CT scans (13/20, 65%), moderate-to-weak enhancement in the late phase on CT (16/17, 94.1%), and a presence of cystic components in the tumors (17/31, 54.8%). In 16.1% (5/31) of PDFs, the cystic component was pathologically confirmed to be a dilated pancreatic duct.

Conclusion: We summarized the clinical and imaging characteristics of PDF. Although the incidence may not be high, cystic components suggesting a dilated pancreatic duct within the tumor are unique imaging features in PDF.

Mesenchymal tumors originate from mesenchymal cells and can be either benign or malignant, such as bone, soft tissue, and visceral sarcomas. Surgery is a cornerstone treatment in the management of mesenchymal tumors, often requiring complex procedures performed in high-volume referral centers. However, the COVID-19 pandemic has highlighted this need for alternative non-surgical approaches due to limited access to surgical resources. This review explores the role of non-surgical treatments in different clinical scenarios: for improving surgical outcomes, as a bridge to surgery, as better alternatives to surgery, and for non-curative treatment when surgery is not feasible. We discuss the effectiveness of active surveillance, cryoablation, high-intensity focused ultrasound, and other ablative techniques in managing these tumors. Additionally, we examine the use of tyrosine kinase inhibitors in gastrointestinal stromal tumors and hypofractionated radiotherapy in soft tissue sarcomas. The Sarculator tool is highlighted for its role in stratifying high-risk sarcoma patients and personalizing treatment plans. While surgery remains the mainstay of treatment, integrating advanced non-surgical strategies can enhance therapeutic possibilities and patient care, especially in specific clinical settings with limitations. A multidisciplinary approach in referral centers is vital to determine the optimal treatment course for each patient.