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Aggressive fibromatosis, also known as desmoid-type fibromatosis (DTF) or desmoid tumor, is an uncommon locally invasive tumor. Because of its low incidence and variable behavior, DTF is often first seen by physicians who are not familiar with it, and recent advances in understanding this disease have led to changes in treatment approaches. The Wnt (β-catenin) pathway appears to play a key role in DTF pathogenesis, and recent studies of DTF biology suggest a possible model of DTF pathogenesis. Histologically, DTF shows a poorly circumscribed proliferation of myofibroblast-like cells with variable collagen deposition, similar to the proliferative phase of wound healing, and DTF has been associated with trauma and pregnancy. Desmoid-type fibromatosis may be a useful model of the tumor stroma in carcinomas as well as other fibrosing diseases such as progressive pulmonary fibrosis. The clinical course of DTF can vary greatly among patients, complicating the determination of the optimal treatment approach. Treatment options include surgery, nonsteroidal anti-inflammatory drugs with or without hormonal manipulation, chemotherapy, radiation therapy, and other forms of local therapy. Many treatments have been used, but these are not without toxicities. Because of the variable nature of the disease and the potential morbidity of treatment, some cases of DTF may do better without treatment; simple observation is often the best initial treatment. This review used a PubMed search from January 1, 1980, through October 31, 2016, using the terms fibromatosis and desmoid and discusses DTF disease characteristics, pathophysiology, and treatment options as well as examines several cases illustrating key points in the biology and treatment of this heterogeneous disease.

Myxofibrosarcoma (MFS) is a common adult soft tissue sarcoma characterized by an infiltrative growth pattern and a high local recurrence rate. Here we report the genetic and epigenetic landscape of MFS based on the results of whole-exome sequencing ( N  = 41), RNA sequencing ( N  = 29), and methylation analysis ( N  = 41), using 41 MFSs as a discovery set, and subsequent targeted sequencing of 140 genes in the entire cohort of 99 MFSs and 17 MFSs' data from TCGA. Fourteen driver genes are identified, including potentially actionable therapeutic targets seen in 37% of cases. There are frequent alterations in p53 signaling (51%) and cell cycle checkpoint genes (43%). Other conceivably actionable driver genes including ATRX , JAK1 , NF1 , NTRK1 , and novel oncogenic BRAF fusion gene are identified. Methylation patterns cluster into three subtypes associated with unique combinations of driver mutations, clinical outcomes, and immune cell compositions. Our results provide a valuable genomic resource to enable the design of precision medicine for MFS. Myxofibrosarcoma occurs in adults and is associated with high local relapse. Here, based on exome/transcriptome sequencing and DNA methylation analysis, the authors identify driver genes and methylation clusters associated with unique combinations of mutations, outcomes, and immune cell compositions.

Background Desmoplastic fibroma is a rare, benign bone tumor that exhibits locally aggressive behavior and typically occurs in the mandible and long bones. Its presence in small bones, particularly in the hallux, is exceedingly rare. Desmoplastic fibroma’s unusual presentation in this region often mimics other lesions, such as glomus tumors, and poses significant diagnostic challenges. Case presentation We present the case of a 38-year-old female with a history of trauma to the affected toe and thyroid cancer, who experienced persistent subungual pain, localized tenderness, and cold hypersensitivity in the hallux. Initial imaging (X-ray and MRI) revealed findings consistent with a glomus tumor, including bone erosion in the distal phalanx. Surgical excision with wide margins was performed due to the patient’s cancer history, and histopathology unexpectedly identified the lesion as desmoplastic fibroma. The patient underwent regular follow-up with X-rays over two years, showing complete healing and no recurrence. Conclusions The case emphasizes the necessity of sending excised specimens for pathological analysis to confirm the diagnosis. Documenting such atypical presentations contributes valuable information to the limited literature on desmoplastic fibroma and aids clinicians in recognizing this rare tumor in unusual locations, potentially improving diagnostic accuracy and management.

Left atrial fibroma as a benign tumor is an exceedingly rare left atrial mass. It has various clinical signs and symptoms and sometimes leads to serious complications such as lethal arrhythmia and death. We report a case of right atrial fibroma in a 40-year-old male who presented with dyspnea and atrial fibrillation. Transthoracic echocardiography revealed a large sessile mass attached to interatrial septum near the coronary sinus valve in the right atrium. The patient underwent surgical resection of tumor through the right atrium. The postoperative course was unremarkable. Histopathological examination showed that it was a fibroma. The 6-month follow-up revealed that the patient was in well condition with no evidence of tumor recurrence.

Fibroma of tendon sheath (FTS) is a benign fibroblastic/myofibroblastic neoplasm that primarily occurs in the fingers and hands of young and middle-aged adults. The lesion typically presents as a small, firm, slow-growing, painless nodule. Ultrasonography usually shows a focal nodular mass with homogeneous hypoechogenicity. Magnetic resonance imaging reveals a well-defined nodular mass with decreased signal on all pulse sequences. No or minimal peripheral enhancement is often seen after intravenous contrast. Histologically, the lesion is well circumscribed and consists of bland spindle cells in a dense collagenous stroma with slit-like thin-walled vessels at the periphery. A cellular variant of FTS has also been described and shows at least a focal morphological overlap with nodular fasciitis. Immunohistochemistry does not play a significant role in the diagnosis of FTS. Cytogenetic studies have demonstrated the presence of 11q rearrangements. A significant subset of cellular variants of FTS are characterized by ubiquitin specific peptidase 6 (USP6) rearrangements, with a variety of fusion partners. Complete surgical excision is the treatment of choice. This review provides an updated overview of the clinical, radiological, histological, cytogenetic and molecular genetic features of FTS and discusses the differential diagnosis of this uncommon entity.

Calcifying aponeurotic fibroma (CAF) is a rare benign but locally aggressive mesenchymal tumor that primarily occurs in the distal extremities of children and adolescents. It typically presents as a slow-growing, painless, poorly circumscribed mass, often of prolonged duration. Radiographs may reveal a soft-tissue mass with a variable extent of fine stippled calcifications. On magnetic resonance imaging, CAF usually appears as an ill-defined subcutaneous mass with low to intermediate signal intensity on T1-weighted sequences and heterogenous high signal intensity on T2-weighted sequences. Areas of calcification exhibit low signal intensity on all pulse sequences. Intense heterogeneous enhancement is seen after intravenous contrast administration. Histologically, CAF is characterized by a fibromatosis-like component and a nodular calcified component. By immunohistochemistry, the tumor cells are variably positive for smooth muscle actin, muscle-specific actin and CD99 but negative for desmin and β-catenin. Moreover, frequent expression of ETS transcription factor ERG (ERG) and epidermal growth factor (EGF) has been demonstrated. Recent molecular studies have identified the presence of a recurrent fibronectin 1 ( )- gene fusion. Surgical excision is the treatment of choice for CAF, but local recurrence is common due to its infiltrative nature. This review provides an updated overview of the clinical, radiological, morphological, immunohistochemical and molecular genetic features of CAF and discusses the differential diagnosis of this uncommon condition.

Lipofibromatosis (LPF) is a locally aggressive but non-metastasizing mesenchymal tumor that primarily occurs in the hands and feet of infants and young children. It typically presents as a slow-growing, painless, poorly demarcated subcutaneous mass. Magnetic resonance imaging reveals the lesion to be a poorly defined mass with a mixture of adipose and fibrous components. Variable enhancement is seen after intravenous contrast administration. Histologically, LPF displays a distinctive admixture of mature adipose tissue and short fascicles of bland spindle cells. By immunohistochemistry, the spindle cells are moderately or diffusely positive for CD34 and CD99, focally positive for smooth muscle actin but typically negative for S-100 protein, desmin, β-catenin and pan-tropomyosin receptor kinase (TRK). Recent molecular studies have shown a variety of fusions involving epidermal growth factor receptor (EGFR) ligands or EGFR itself or other receptor tyrosine kinases, suggesting a shared deregulation of the phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of the rapamycin (mTOR) pathway. Complete surgical excision with preservation of adjacent neurovascular structures is the treatment of choice for LPF. This review provides an updated overview of the clinical, radiological, histological, immunohistochemical, cytogenetic and molecular genetic features of LPF and discusses the relationship to LPF-like neural tumor.

Purpose Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric temporoparietal cranial desmoplastic fibroma (DF) with a CTNNB1 gene mutation and review the previous literature. Case presentation A 3-year-old boy had a firm, painless mass on the right temporoparietal region for 22 months. The cranial CT scan showed isolated osteolytic destruction in the outer plate and diploe of the right temporoparietal bone. Gross total resection of the lesion and cranioplasty were performed. After that, a growing epidural hematoma was observed so another operation was performed to remove the artificial titanium plate. Postoperative pathology indicated a DF diagnosis and molecular pathology suggested a missense mutation in exon 3 of the CTNNB1 gene (c.100G > A,p.Gly34Arg). Conclusion Pediatric cranial DF is rare and easy to be misdiagnosed before operation. For cranial DF, lesion resection can be performed and perioperative management should be strengthened. Mutations in the CTNNB1 gene might be one of the molecular pathologic features of DF.

Plexiform fibromyxomas are uncommon gastrointestinal neoplasms that have histologic and molecular features that overlap with other gastrointestinal mesenchymal tumors and present a diagnostic challenge for surgical pathologists. To provide a review of the clinicopathologic, morphologic, immunohistochemical, and molecular features of plexiform fibromyxomas, with a brief discussion of key features that aid in differential diagnosis. Analysis of the pertinent literature (PubMed) and clinical practice experience based on institutional and consultation materials. Plexiform fibromyxoma is a rare benign gastrointestinal mesenchymal tumor. Diagnosis is primarily based on morphology, immunohistochemistry, and the exclusion of other gastrointestinal mesenchymal tumors from the differential diagnosis.

Background The aim of the present study was to evaluate the prevalence of non-ossifying fibroma (NOF) and fibrous cortical defect (FCD) in a Japanese pediatric population and the association between the lesion size and pain. Methods This retrospective study, conducted across 10 Japanese institutions, included patients aged 5–15 years who had undergone standard antero-posterior and lateral view radiography of the knee. Using these radiographs, we diagnosed the lesion as a NOF or FCD. Patient demographics, including age, sex, the size and location of the NOF, and chief complaint were recorded. The lesion size was determined using radiographs. Student’s t-test was used to compare the associations between the lesion size and spontaneous pain. Results A total of 6222 subjects (3567 boys and 2455 girls) were included in this study. The number of NOF and FCD cases was 143 and 437, respectively, and the prevalence of NOF and FCD was 2.3% and 7.0%, respectively. The average size of NOF and FCD was 22.1 mm (range: 4–102 mm) and 13.2 mm (range: 5–21 mm), respectively. Three patients (2.1%) had pathological fractures due to NOF. Of the 140 NOFs and 437 FCDs, we obtained complaints from the medical records of 126 and 393 patients, respectively. The number of patients with spontaneous pain or other problems with NOF was 68 (54%) and 58 (46%), respectively, that of patients with FCD was 195 (50%) and 198 (50%) patients, respectively. The lesion size was not associated with spontaneous pain in either lesion ( p  = 0.67 and p  = 0.27, respectively). Conclusion The prevalence of NOF and FCD around the knee was lower than that reported in previous studies. The prevalence of NOF increased and that of FCD decreased with advancing age. In both lesions, the lesion size may not be associated with pain.