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Desmoplastic fibroma is a very rare benign bone tumor with local aggressiveness. We describe imaging findings in 2 cases with desmoplastic fibroma of the bone. One case had a desmoplastic fibroma in the right distal femur, showing bone destruction with sclerotic margins and inhomogeneous FDG uptake. The other case had a desmoplastic fibroma in the left ninth rib, showing progressive peripheral enhancement and increased 99m Tc-MDP uptake.

Desmoplastic fibroblastomas are benign and uncommon soft-tissue tumors. They are typically slow-growing, painless masses found in adult men. Rapidly growing masses have been previously reported, but are more rare. A 56-year-old man presented with a rapidly growing mass in his left foot, which was diagnosed as a desmoplastic fibroblastoma after pathologic evaluation. Although many case reports have been published in the dermatology literature, it is important to be aware of this benign neoplasm to avoid confusion with other rapidly growing malignant soft-tissue masses reported in the podiatry literature.

Desmoplastic fibromas of bone are extremely rare, slow growing, locally invasive, benign primary bone tumours, bearing close resemblance to the extra-abdominal desmoid tumours of soft tissue. They typically occur in patients around 30 years of age, and most commonly affect the mandible, pelvis and meta-diaphyseal region of long bones. En bloc or wide resection has typically been the treatment of choice to avoid recurrence, however, recent reports support curettage with bone grafting and adjuvant therapy to minimise functional loss. We report a 9-year-old child with a desmoplastic fibroma of right radius. This is an unusual age group for this bone tumor. The tumor was managed with en bloc resection and reconstruction with a non-vascularised fibula autograft. The patient had good functional outcome and no recurrence at 1-year follow-up. Level of Evidence: Level V (Therapeutic)

Desmoplastic fibroblastoma (collagenous fibroma) is a rare benign soft-tissue tumor. Often found in the subcutaneous and muscle tissue, it is slowly enlarging and generally not painful or invasive. The literature often describes the tumor to be found in the upper extremities, neck, and back. Full excision of the tumor is the treatment of choice, and the prognosis is generally favorable; there are no documented cases of recurrence after full excision. We present an atypical case of desmoplastic fibroblastoma found on the dorsum of the foot with a larger tumor present in a substantially younger patient than is typical.

Background Desmoplastic fibroblastoma (also known as collagenous fibroma) is a benign, slowly growing soft-tissue tumor. Most desmoplastic fibroblastomas develop in the limbs, neck, or trunk. A mediastinal origin is quite rare. Case presentation A 32-year-old Asian female was referred to us for the diagnosis and treatment of an anterior mediastinal tumor. The tumor was 80 mm in the largest diameter and was located on the pericardium. No invasion was evident. She underwent resection of the tumor via video-assisted thoracoscopic resection. The tumor was totally encapsulated, and its pedicle was on the pericardium. The resected specimen was very rigid, making it difficult to remove from the intercostal space. Histologically, the tumor was composed of a paucicellular dense collagenous tissue. Mitosis was rarely observed, and cellular atypia was not evident, suggesting that the tumor was benign. We diagnosed the tumor as a desmoplastic fibroblastoma by morphology and immunohistochemistry. Conclusions Desmoplastic fibroblastoma of the mediastinum is an extremely rare disease. Preoperative diagnosis is difficult. Early surgical resection is suitable for diagnosis and treatment planning.

Desmoplastic fibroblastoma (also known as collagenous fibroma) is an uncommon benign fibroblastic/ myofibroblastic neoplasm that primarily arises in the subcutaneous tissue of upper extremity. Magnetic resonance imaging reveals a well-defined mass in intimate association with dense connective tissue and prominent low signal intensity on all pulse sequences. Peripheral and septal enhancement is usually seen after intravenous contrast. Histologically, the lesion is paucicellular and consists of spindle to stellate-shaped cells embedded in a collagenous or myxocollagenous stroma with low vascularity. Diffuse and strong nuclear immunoreactivity for FOS-like antigen 1 seems to be characteristic of desmoplastic fibroblastoma. Cytogenetic studies have demonstrated the presence of 11q12 rearrangements and an identical t(2;11)(q31;q12) translocation. This review provides an updated overview of the clinical, radiological, histological, cytogenetic and molecular genetic features of desmoplastic fibroblastoma and discusses the relationship to fibroma of tendon sheath.

OBJECTIVE. We undertook this study to determine the radiologic features of desmo-plastic fibroblastoma. MATERIALS AND METHODS. We reviewed available radiologic images for 29 pathologically confirmed desmoplastic fibroblastomas, including images from MRI, radiography, ultrasound (US), and CT. RESULTS. The patient population included 14 women and 15 men (mean age, 60 years; range, 23-96 years). Typically, lesions were oval or lobulated and relatively small (mean, 5.6 cm). In 14 of the 22 cases that included patient histories, lesions had grown slowly, with two eventually causing pain. The remaining eight were discovered incidentally. All lesions involved or were below the deep fascia. Lesions were well-defined and associated with muscle (45%), deep fascia (28%), joint (21%), or tendon (7%). MR images were available in 26 cases; 14 included unenhanced and contrast-enhanced studies. On MRI imaging all lesions were well-defined and adjacent to dense connective tissue. On T1-weighted images, lesions showed varying amounts of low and intermediate signal intensity similar to that of tendon and skeletal muscle, respectively. On fluid-sensitive images, lesions were more heterogeneous, generally showing a wider spectrum of decreased to intermediate signal intensity. On contrast-enhanced MR images, enhancement was characteristically peripheral and septal with patchy areas of homogeneity. In the 10 cases with radiographs, images showed negative findings or a nonmineralized mass. The 10 available ultrasound studies showed mixed echogenicity. In eight patients, unenhanced CT showed lesions having attenuation similar to that of skeletal muscle. CONCLUSION. Desmoplastic fibroblastoma is an uncommon neoplasm with a relatively characteristic MRI appearance.

本文报道了1例发生于咽旁间隙的促结缔组织增生性纤维母细胞瘤患者，病理检查为促结缔组织增生性纤维母细胞瘤，镜下检出瘤组织包绕神经。随访5个月症状无复发。.

Fibrous dysplasia may show locally aggressive behaviour reflecting secondary intralesional changes, extension to soft tissue, or malignant transformation. We report the case of a patient with polyostotic fibrous dysplasia who had a giant mandibular lesion consisting of histologically typical, genotypically-confirmed, fibrous dysplasia merged with a fibrotic and hypocellular desmoplastic fibroma-like tissue in which the same Gsα-R201H mutation was detected. The occurrence of the same mutation in both the fibrous dysplasia and areas of desmoplastic fibroma suggests that the fibroma-like tissue reflects an unusual secondary tissue change within an otherwise typical fibrous dysplasia. To the best of our knowledge, only four cases of fibrous dysplasia with desmoplastic fibroma-like tissue changes have been reported.

Background: Desmoplastic fibroblastoma (collagenous fibroma) is an uncommon benign soft-tissue tumor, rarely involving bone. It shares some overlapping features with other infiltrate tumors, such as desmoid-type fibromatosis, neurofibroma, and low-grade fibromyxoid sarcoma. The misdiagnosis may cause unnecessary surgical overtreatment, especially for those involving bone. In order to deepen the understanding of the diagnosis and differential diagnosis of desmoplastic fibroblastoma, we planned to analyze the clinical, radiological, and histopathological features and the outcome of desmoplastic fibroblastoma on the basis of case analysis and literature review. Methods: Sixteen cases were retrieved from the surgical pathology records from May 2011 to April 2016 in the Department of Pathology in Beijing Jishuitan Hospital. Formalin-fixed, paraffin-embedded specimens of 16 cases of desmoplastic fibroblastoma were collected. Hematoxylin and eosin stain and immunohistochemistry were used to observe the histological features of desmoplastic fibroblastoma of soft tissue and bone. The images for diagnosis obtained from the ultrasonic examination, X-ray, magnetic resonance imaging, and computed tomography were used to observe the radiological features. Related literatures were retrieved from the PubMed and CNKI databases. Results: Sixteen cases of desmoplastic fibroblastoma of soft tissue were located in the hand (n = 7), foot (n = 4), upper arm (n = 1), shoulder (n = 1), forearm (n = 2), and one case occurred in the proximal femur. Age ranged from 32 to 82 years (median age: 58 years). There were six females and ten males. Histologically, the lesions of soft tissue appeared as well-circumscribed masses with abundant collagenous matrix and low vascularity. Tumor cells were stellate- or spindle-shaped and uniformly distributed within the extracellular matrix. In five cases, the desmoplastic fibroblastoma were found to have infiltrated into the skeletal muscle tissue. In one case of desmoplastic fibroblastoma of bone, radiographs revealed osteolytically well-defined lesion. Immunohistochemistry stain showed that vimentin and smooth muscle actin were positive in all cases of desmoplastic fibroblastoma. Conclusions: Desmoplastic fibroblastoma (collagenous fibroma) has prominent clinical, histopathological, and radiological features. Before the differential diagnosis from other tumors is obtained by thorough analysis and comparison of the similar and different characteristics, the appropriate surgical management and accurate prognosis evaluation could not be delivered to the patient.

We report a case series of aggressive fibromatosis of the forearm and discuss the differentiation criteria of overlapped intra- or extra-osseous origin of aggressive fibromatosis, surgical approach, and outcome. Ten cases of aggressive fibromatosis of the forearm were evaluated. When there was no involvement of vital adjacent structures, such as nerves, vessels, and tendons, en-bloc excision was performed for the removal of the soft-tissue mass. Bone involvement was observed in nine cases. Intercalary allograft was performed whenever one of the forearm bones was involved (six cases), while extensive curettage was used if both forearm bones were affected (three cases). The mean Musculoskeletal Tumor Society Score was 90%, ranging from 80% to 97%. Limited forearm rotation was the most frequent complication. Three local recurrences were observed, none with intercalary allograft reconstruction. We conclude that the extensive curettage of the involved bone results in a higher risk of local recurrence compared with intercalary allograft. Level of evidence: IV

骨韧带样纤维瘤是一种来源于骨纤维组织的交界性病变，临床进展一般缓慢，发生于颌面部可出现面型不对称、张口受限、疼痛麻木等临床症状。本文报道1例下颌骨骨韧带样纤维瘤。.

The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with immunohistochemical and/or molecular tests. We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.4-cm midline nasal cavity mass involving the bony septum and extending into the base of the skull bilaterally. The moderate cellular fibroblastic proliferation revealed areas of thick keloid-like collagen bands and other areas with myxoid edematous stroma. Deep targeted sequencing identified a novel G34V mutation in the CTNNB1 gene consistent with desmoid fibromatosis. An 11-month-old male infant presented with a right nasal mass that extended through the cribriform plate into the anterior cranial fossa and involved the right ethmoid sinus and adjacent right orbit. Histology revealed an infiltrative atypical fibrous proliferation with focal calcifications that was negative for CTNNB1 and GNAS mutations. A novel RET E511K variant was identified in the tumor and later was also found in the germline and hence rendered of unknown significance. Both cases highlight the utility of next-generation sequencing in the evaluation of pediatric sinonasal spindle cell tumors that may have overlapping pathologic features. Reporting of rare or novel variants in tumor-only sequencing should be cautiously evaluated in children and pairing with germline sequencing may be needed to avoid the pitfall of assigning uncommon variants.

Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by a bulging tumor of the face. Radiologically, the tumor is usually characterized by an expansile lytic bone lesion. The histopathology of the tumor shows a poorly circumscribed hypocellular lesion rich in collagen fibers with interspersed spindle cells having bland nuclear chromatin. Despite the lack of mitoses and nuclear pleomorphism, DF has an aggressive nature, presenting as a destructive growth causing entrapment of neuro-vascular bundles, sinusitis, or trismus. Some cases of DF show mutations in the adenomatous polyposis coli pathway shown by nuclear localization of the β-catenin protein. Few reports showed an association with tuberous sclerosis, though most of these cases were sporadic. We discuss a rare case of desmoplastic fibroma involving the mandible, and a review of the literature of the DF cases involving the gnathic bones.

Case Desmoplastic fibromas are tumors of fibrous tissue that rarely are diagnosed. We present the case of a 27-year-old man who presented with pain of the forearm that was initially diagnosed as a muscle strain. A computed tomography-guided core biopsy revealed a desmoplastic fibroma. Consequently, the patient was treated with a resection of the proximal aspect of the radius followed by reconstruction with use of a vascularized fibular autograft. Conclusion At the 2-year follow-up, radiographs showed integration of the autograft; additionally, good results were noted with the Patient-Reported Outcomes Measurement Information System (PROMIS) Upper Extremity and Physical Function Short Form T-score and the QuickDASH (an abbreviated version of the Disabilities of the Arm, Shoulder and Hand Score [DASH]) questionnaire, along with good range of motion.

Rationale: Desmoplastic fibroma of the bone (DFB) is an extremely rare benign bone tumor, which can occur in any bone at all ages. Herein, we report a case of non-specific imaging findings. Patient concerns: A 25-year-old female patient was consulted in the Armed Police General Hospital (Beijing, China) due to repeated pain in the right thigh lasting over 1 year. Imaging examination revealed a space-occupying lesion in the right femur. Diagnosis: Desmoplastic fibroma of the femur Interventions: Wide surgical resection Outcomes: At the 1-year follow-up visit, no relapse in the tumor was observed. Lessons: In this case report, we described and emphasized the particularity of the case examined and the possible non-specificity of the imaging results of some DFB cases.

Desmoplastic fibroblastoma (DF) is a rare benign soft tissue with spindle-to-stellate-shaped fibroblasts and myofibroblasts embedded in a prominent collagenous background. DF, mainly affecting subcutaneous and muscle tissue, very rarely occurs in the oral cavity. Hitherto, only one case of DF on the tongue has been reported. Here, we report another case. A 66-year-old woman was referred to our hospital with a mass formation in the tongue. On examination, a well-circumscribed, elastic, soft tumour with normal surface mucosa, measuring 13×12 mm, was observed on the left dorsal surface of her tongue. MRI and ultrasonography confirmed the mass, and a benign tongue tumour was suspected. The tumour was surgically resected under general anaesthesia 1 month later, leading to the histopathological diagnosis of DF. She experienced an uneventful clinical recovery after surgery, with no recurrence noted for more than 1 year postoperatively.

Desmoplastic fibroblastoma is an uncommon, benign fibrous soft tissue tumor that usually occurs in the arms, shoulders, neck, hands, and feet in the fifth to seventh decades of life. In general, it is commonly located in the subcutaneous tissue and skeletal muscle. The authors report an unusual case of a desmoplastic fibroblastoma mimicking tenosynovial giant cell tumor encasing a tendon of the foot in a 72-year-old woman. Ultrasonography revealed an inhomogeneously hypoechoic lobulated soft tissue lesion completely wrapped around the extensor digitorum longus tendon. Color Doppler study revealed increased vascularity in the internal and peripheral portions of the lesion. Magnetic resonance imaging revealed a well-defined, lobulated soft tissue mass encasing the extensor digitorum longus tendon with predominantly isointense signal with some areas of hypointense signal on T1-weighted images, predominantly hyperintense signal with some areas of hypointense signal on T2-weighted images, and inhomogeneous enhancement on fat-suppressed contrast-enhanced T1-weighted images. Surgical excision was performed, and the mass was diagnosed on pathological examination as a desmoplastic fibroblastoma. There has been no previously published radiologic case of a desmoplastic fibroblastoma encasing a tendon of the foot in the literature.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that affects the skin, brain, kidneys, and other organ systems. It may exhibit a wide spectrum of clinical manifestations. Desmoplastic fibroma (DF) of the jaw is a rare benign myofibroblastic neoplasm. Less than 10 cases of DF associated with TSC have been published previously. We report a new case of a maxillary DF in a 12-year-old girl with TSC. The presentation, diagnostic process, and management of this case are discussed, and the literature is reviewed for the additional cases of DF associated with TSC; 7 previously reported cases are summarized. Small sample size limits conclusions, but there may be differences in the presentations of DF of the jaws in patients with TSC vs those in the general population. DF of the jaws may be a manifestation of TSC, and the authors propose surveillance panoramic radiographs every 2 to 3 years in patients with TSC.

An elderly female patient presented to the clinic with a several-week history of a mass in her left upper arm that was tender to the touch. The mass was initially thought to be a schwannoma of the left radial nerve based on imaging and was surgically removed. The pathology report revealed an uncommon diagnosis of desmoplastic fibroblastoma.

Desmoplastic fibroma is a rare benign fibrogenic, locally aggressive, primary bone tumor. It is the intraosseous counterpart of soft tissue aggressive fibromatosis. The lesion may very rarely appear as a superficial bone lesion arising from the periosteum; in such cases, a soft tissue mass with changes in the adjacent bone is evident. Periosteal lesions are very rare in the literature; diagnosis is usually based on the radiographic findings, and histological proof of the tumor origin is missing. A periosteal desmoplastic fibroma of the distal tibial metaphysis in a 3-year-old boy is presented. Radiographic investigation included plain radiographs and computed tomography imaging. Both demonstrated a soft tissue lesion involving the superficial bone tissues with non-aggressive looking borders and a pressure effect with a sclerotic rim in the bone. The lesion was excised, and the surgical as well as the histological findings indicated the diagnosis of a desmoplastic fibroma of bone arising from the periosteum. No recurrence was detected 5 years after surgery.

Rationale: Desmoplastic fibroma (DF) is a rare, locally invasive but benign bone tumor. It represents one of the rarest bone diseases, with an incidence of only 0.11% of all primary bone tumors. Patient concerns: Herein, a case of massive and unusual DF, with simultaneous involvement of ilium and ischium, is described. A 29-year-old man suffered minor pain in his right hip for 2 years. It worsened after sudden movements, which prevented him from walking normally. Physical examination showed a limitation when the right hip was flexed and a percussion pain on the hip region. A medical imaging examination showed that the right ilium and ischium had a massive bone lesion. The top of acetabular had very little bone left and a fracture was likely at any time. No prominent body weight loss was noted, because there was no extensive invasion to the adjacent soft tissue. Diagnoses: DF of the Ilium and Ischium. Interventions: The patient underwent a surgery involving curettage and grafting to maintain the stability of the pelvis. Outcomes: The definitive pathological diagnosis was DF, without evidence of malignancy. The postoperative recovery course at 3-month follow-up was uneventful. Lessons: To the authors’ knowledge, such a massive DF involving both ilium and ischium has been rarely reported. Young patients require appropriate and timely treatment modalities.

Desmoplastic fibroblastoma (Collagenous fibroma) is a rare benign soft tissue tumor that disseminates widely and can be intramuscular or subcutaneously. There are seven reported cases in the oral cavity so far. We reported a novel case of collagenous fibroma that has been found in the anterior part of maxilla in a 58-year-old woman as an intraosseous radiolucent lesion that has been discovered during routine radiography. Histopathologically, spindle and stellate-shaped fibroblasts in a collagen-rich stroma as well as binucleated and multinucleated fibroblasts with prominent nucleoli were seen. Desmoplastic fibroblastoma could be found in jaw bones and excision of the lesion is curative, and no aggressive growth has been reported.

We hereby report on a case in which a huge chest wall defect generated by resection of a massive aggressive tumor (desmoplastic fibroma) was repaired with osteogenic-induced mesenchymal stem cells embedded in a bone-derived biomaterial. In this case, there were three challenges to overcome: reconstruction of the soft tissue, repair of the skeletal defect of the thoracic wall and repair of the defect in the pleural cavity. The defects of soft tissue and pleural cavity were reconstructed, respectively, with an ipsilateral abdominal flap and a diaphragm muscular flap. The huge defect in the chest wall was successfully repaired with the tissue-engineered ribs, which was confirmed by long-term follow-up with computerized tomography and histological and immunohistochemical evaluations. In view of its effectiveness and safety, tissue-engineered bones may have a broad application for the repair of large skeletal defects and bone regeneration.

We describe to our knowledge the first patient with giant desmoplastic fibroblastoma of the calvarium in a 20-year-old woman whose tumor first appeared at the age of 5 years. We also discuss the histopathological differential diagnosis, management dilemmas and complications of desmoplastic fibroblastoma.

This article is a case-based review of the broad spectrum of tumors with musculoskeletal histology that can arise in the abdomen or pelvis and involve the soft tissues, muscle, and bone. In this article, pathology-proven cases are presented with a focus on radiographic, computed tomography, magnetic resonance imaging, and positron emission tomography-computed tomography findings. The imaging features that differentiate tumors with musculoskeletal histology from more common abdominal tumors are discussed. Representative cases include malignant fibrous histiocytoma, chondrosarcoma, Ewing sarcoma, hemangiopericytoma, desmoplastic fibroma, neurofibrosarcoma, osteosarcoma, intimal sarcoma, liposarcoma, leiomyosarcoma, synovial sarcoma, teratoma, and chordoma. A variety of tumors with musculoskeletal histology can arise in the abdomen and pelvis. In some cases, unique imaging characteristics allow a confident diagnosis, whereas other cases have a more nonspecific appearance. Recognition of imaging features that suggest a musculoskeletal tumor including direct extension from a bone or neural foramen, the presence of cartilaginous or osseous matrix, or macroscopic fat would allow the radiologist to suggest the proper diagnosis. Recognizing imaging characteristics of tumors with musculoskeletal histology is important clinically as management and prognosis differ from that of more common abdominal tumors.

CLINICAL PRESENTATION In 2009, a 43-year-old white woman was referred to the Department of Oral and Maxillofacial Imaging at the Lebanese University with an approximately 1 year history of a slowly expanding, painless mass along the left inferior part of the mandible in the premolar region. The patient initially consulted her dentist in 2007, and a panoramic radiograph was acquired at that time (Figure 1). The practitioner told her that there is nothing to worry about, and he scheduled a follow-up appointment. Sixteen months later, the patient went to the dental school for a second opinion. She was referred to our department, where a panoramic radiograph was taken (Figure 2). It showed a well-circumscribed, round, radiolucent area extending from the inferior border of the mandible in the premolar region and overlapping the mandibular canal. Cone beam computed tomography imaging (using i-CAT (Imaging Sciences International, USA) with voxel size 0.3 mm (field of volume 6 cm), tube voltage of 120 kV, current of 23.87 mA, and exposure time of 20 s) demonstrated a 13 11 mm lytic lesion in the left mandibular premolar region. The lesion was situated on the buccal aspect in the inferior third of the mandible. The lesion was irregular in shape, noncorticated, but fairly well demarcated. The alveolar process was interrupted, with the presence of what seemed to be a communication between the buccal and lingual aspect and a bone structure connecting the mesial and distal sides. The mandibular canal was displaced to the lingual side; the lingual cortex was intact (Figure 3). During the clinical examination, the patient complained of mild pain over the swollen area; however, she reported that chewing, swallowing, and speech were normal. On clinical examination, there was a slightly firm swelling in the region, slightly painful on pressure. Skin and the oral mucosa over the swelling were normal; however, the swelling could not be

Case We report a rare case of desmoplastic fibroma (DF) of the midshaft femur presenting as a pathological fracture. This rare benign bone tumor was treated with an acute en bloc excision and femoral shortening over an intramedullary nail. Once union of the acute shortening had been achieved, further surgery was undertaken to lengthen the femur with the use of Intramedullary Skeletal Kinetic Distractors. At 3 years after fracture, our patient had achieved equal leg lengths, had normal knee function, and was disease free. Conclusions DF resulting in pathological fracture of the midshaft femur is extremely rare and has not been reported to occur in the femoral diaphysis. This location is important as preservation of the joint above and below is preferable and en bloc excision is recommended. Restoration of bone stock after en bloc excision is difficult and recurrence needs to be monitored.

CASE We present the case of a 14-year-old male who presented with a pathologic elbow fracture. Imaging demonstrated a lytic distal humerus metaphyseal lesion with a soap bubble appearance. After fracture healing, frozen sections obtained at open biopsy suggested fibrous tissue; thus, curettage and bone grafting was performed. Pathology confirmed desmoplastic fibroma. The patient experienced a recurrence 18 months later and had repeat curettage and allograft strutting. He had no evidence of re-recurrence 2 years after the second surgery. CONCLUSIONS Desmoplastic fibroma may mimic the presentation of many bone lesions. Recurrence is common despite curettage and bone grafting. This patient performed well without wide resection.

Item does not contain fulltext AIMS: Desmoid-type fibromatosis (desmoid) is a locally aggressive (myo)fibroblastic lesion. It represents one of the more common fibrous tumours in children and adolescents. The head and neck region is more often involved than in adults. METHODS AND RESULTS: We investigated the clinicopathological and genetic characteristics of seven paediatric desmoids at this anatomical site, including two cases of desmoplastic fibroma located in the mandible. There were two females and five males with an age range of 1.5-8 years. The sites of the soft tissue lesions were sinonasal (n = 4) and paramandibular (n = 1). All cases showed typical morphology and nuclear beta-catenin expression. CTNNB1 gene sequencing, performed successfully in five cases, revealed mutations in three cases with one p.T41A (bone lesion), one p.S37A and one novel mutation, p.D32V (sinonasal soft tissue lesions). Six patients were treated by excision with positive margins in five cases. Follow-up, available for six patients (median 4 years), showed no evidence of disease in four cases, slow progression in one case, and recurrence with stable disease in the last case. CONCLUSIONS: Our study provides evidence of genetic similarities in desmoid and desmoplastic fibroma. Additionally, we expanded the spectrum of mutations in CTNNB1 with one novel desmoid mutation.

Desmoplastic fibroma (DF) is a rare, locally aggressive, solitary tumor microscopically composed of well-differentiated myofibroblasts with abundant dense collagen deposition. The most common sites are the long tubular bones and mandible. To our knowledge, only five cases of DF in the ribs have been reported. Here, we report a case of DF in this rare location with unusual radiological findings. A 40-year-old man presented with a 4-year history of swelling of the right chest wall. Radiographs revealed a mass at the right 9th rib, and computed tomography demonstrated a mass of 14 × 12 × 8 cm at the right 9th rib with expanded cystic change and marked calcification that appeared to have arisen from the bone. Open biopsy suggested DF. Total excision was performed, and the chest wall was reconstructed. The surgical specimen was a yellowish tumor with multilocular cystic change containing a viscous liquid. The tumor was composed of a proliferation of less-atypical spindle-shaped cells in a collagenous background. The cystic change was observed in the extra-osseous lesion. No β-catenin cytoplasmic/nuclear accumulation was detected, and no β-catenin or GNAS genetic mutations were detected. A final diagnosis of DF was made on the basis of the pathological and radiological findings. The patient was successfully treated with total excision of the tumor with no evidence of recurrence 6 months after surgery.

A 40-year-old woman with left periorbital swelling for 1 month presented without diplopia or change in vision. Imaging studies revealed a 1-cm mass at the frontozygomatic junction at the orbital rim with slight bony erosion and spiculation. The lesion was applied to the periosteum and was excised along with a portion of the bony orbital rim. Histopathology revealed elongated and stellate fibroblasts within a dense collagenous matrix. Vimentin and Masson trichrome staining was consistent with a collagenous fibroma, a rare tumor that has, only once before, been reported in the orbit in the lacrimal fossa region. The current collagenous fibroma arose from the periosteum to grow exophytically, causing minimal bone changes. A literature review shows that this condition predominantly affects middle-aged and older adults rather than children.

The desmoplastic fibroma is a rare locally aggressive spindle-cell proliferation made up of fibroblasts/myofibroblasts immersed in a dense collagenic stroma. Head and neck localisation of desmoplastic fibromas is even more rare and the literature is limited to small case series and reviews. A comprehensive review of the English literature from 1968 to 2011 revealed only 79 cases of mandibular desmoplastic fibromas and only 18 (22%) in patients under 4 years of age. Complete resection with clear margins is the surgical first option, but it can be difficult to achieve in the paediatric mandible, especially for giant tumours as the three reported here. Mandibular reconstruction in these cases is mandatory to ensure correct craniofacial development. The authors present three cases of huge mandibular desmoplastic fibromas in paediatric patients treated with mandibulectomy and immediate reconstruction using rib grafts. Indications, reconstructive options and results are discussed.

Desmoplastic fibromas are primary bone tumors that seldom occur in the cranial bones. Furthermore, reports of desmoplastic fibromas of the skull in children are exceedingly rare. Although desmoplastic fibromas are histologically benign, they are locally aggressive and have a propensity to reoccur. Their radiographic appearance may mimic other more common central nervous system and bone neoplasms. There are only 19 reported cases of desmoplastic fibroma of the cranium in the literature, and only seven occurred in the pediatric age group. We present a case report of an 11-year-old female patient with a desmoplastic fibroma of the parieto-occipital region and review the literature.An 11-year-old female presented to the craniofacial clinic complaining of intermittent pain and a soft mass in the occipital region. There was a distant history of trauma to the region that did not require medical intervention. Computed tomography imaging revealed a lytic bone lesion overlying the sagittal sinus in the parieto-occipital region. Surgical resection with wide margins and immediate autologous reconstruction was performed. Pathological analysis revealed a desmoplastic fibroma. At 4 months of follow-up, no recurrence has been noted.Desmoplastic fibroma of the cranium is rare. Complete surgical resection with careful follow-up is the treatment of choice.

Aggressive fibromatosis is a benign but locally-aggressive tumor, which most often affects the muscles of the shoulder, the pelvic girdle, and the thigh. It usually affects adolescents and young adults. Desmoplastic fibroma, considered the bone counterpart of soft tissue fibromatosis, is a rare tumor that usually affects the metaphyseal or diaphyseal portions of long bones or, less commonly, the jaw. Neuromuscular hamartoma, a rare developmental lesion composed of mature elements of both striated muscle and nerve, is usually diagnosed in infants and children and affects large nerve trunks. Rarely, it can affect the head and neck region. Occasional cases showing an association between aggressive fibromatosis and neuromuscular hamartoma have been reported in the literature. Here we present a unique case of an adult patient with desmoplastic fibroma of the mandible in association with neuromuscular hamartoma.

This paper reports a case of the extremely rare disease, the desmoplastic fibroma of the temporal bone (DF). The clinical course of this pathology, the methods for its diagnostics, and surgical treatment are described.Представлены данные о крайне редко встречающемся заболевании - десмопластической фиброме височной кости (ДФ). Описано клиническое наблюдение ДФ, диагностика и хирургическое лечение при данном заболевании.Представлены данные о крайне редко встречающемся заболевании — десмопластической фиброме височной кости (ДФ). Описано клиническое наблюдение ДФ, диагностика и хирургическое лечение при данном заболевании.

We report a case of desmoplastic fibroblastoma (DF) of the foot in a 65-year-old woman. The tumor presented as a slow-growing, painless mass located in the first intermetatarsal space of the right foot. Ultrasound showed a well-circumscribed hypoechoic lesion containing hyperechoic calcifications confirmed on standard radiographs. At magnetic resonance imaging (MRI), the mass appeared isointense to the muscles on T1-weighted (T1W) images, hyperintense on proton-density-weighted fat-saturated images, and presented scattered internal hypointense foci. Post-contrast T1W spectral presaturation with inversion recovery (SPIR) images showed heterogeneous, mostly peripheral, contrast enhancement. DF must be considered in the differential diagnosis of soft-tissue calcified tumors of the foot.

Desmoplastic fibroma (DF) of bone is considered a benign but locally aggressive tumor of fibroblastic origin. DF is rare, representing less than 1% of all bone tumors. Approximately 84% of patients are younger than 30 years. DF has a slow but aggressive growth potential and can recur locally when it has not been completely excised. Complete resection is the treatment of choice to decrease recurrence and morbidity. Mandibular reconstruction is mandatory in pediatric patients to ensure correct craniofacial development. The present report describes the case of a pediatric patient with mandibular DF in whom complete resection and immediate reconstruction with a fibula flap proved a satisfactory treatment option, with low morbidity and excellent esthetic and functional results at 6-year follow-up.

Desmoplasia, a fibrotic mass including cancer-associated fibroblasts (CAFs) and self-sustaining extracellular matrix (D-ECM), is a puzzling feature of pancreatic ductal adenocarcinoma (PDACs). Conflicting studies have identified tumor-restricting and tumor-promoting roles of PDAC-associated desmoplasia, suggesting that individual CAF/D-ECM protein constituents have distinguishable tumorigenic and tumor-repressive functions. Using 3D culture of normal pancreatic versus PDAC-associated human fibroblasts, we identified a CAF/D-ECM phenotype that correlates with improved patient outcomes, and that includes CAFs enriched in plasma membrane-localized, active α5β1-integrin. Mechanistically, we established that TGFβ is required for D-ECM production but dispensable for D-ECM-induced naïve fibroblast-to-CAF activation, which depends on αvβ5-integrin redistribution of pFAK-independent active α5β1-integrin to assorted endosomes. Importantly, the development of a simultaneous multi-channel immunofluorescence approach and new algorithms for computational batch-analysis and their application to a human PDAC panel, indicated that stromal localization and levels of active SMAD2/3 and α5β1-integrin distinguish patient-protective from patient-detrimental desmoplasia and foretell tumor recurrences, suggesting a useful new prognostic tool. DOI: http://dx.doi.org/10.7554/eLife.20600.001, eLife digest Tumors are not entirely made out of cancerous cells. They contain many other components – referred to as tumor stroma – that may either encourage or hinder the tumor’s growth. Tumor stroma includes non-cancerous cells and a framework of fibrous sugary proteins, called the extracellular matrix, which surround and signal to cells while providing physical support. In the most common and aggressive form of pancreatic cancer, the stroma often makes up the majority of the tumor’s mass. Sometimes the stroma of these pancreatic tumors can protect the cancer cells from anti-cancer drugs. Researchers have therefore been interested in finding out exactly which aspects of the tumor stroma shield and support cancer cells, and which impede their growth and progression. Answering these questions could make it possible to develop new drugs that will change a tumor-supporting stroma into one that hinders the tumor’s growth and spread. The most abundant cells in the stroma of pancreatic tumors are called cancer-associated fibroblasts. Healthy specialized fibroblasts – known as pancreatic stellate cells – help to build and maintain the ‘normal’ extracellular matrix and so these cells normally restrict a tumor’s development. However, cancer cells can adapt healthy fibroblasts into cancer-associated fibroblasts, which produce an altered extracellular matrix that could allow the tumor to grow. Franco-Barraza et al. have now compared healthy and cancer-associated fibroblasts from patients’ pancreatic tumors. One of the main differences between these two cell types was the location of the activated form of a molecule called α5β1-integrin. Healthy fibroblasts, in a normal extracellular matrix, have active α5β1-integrin on the surface of the cell. However, a number of tumor-promoting signals, including some from the altered extracellular matrix, could force the active α5β1-integrins to relocate inside the fibroblasts instead. In further experiments, where the activated integrin was retained at the cell surface, the fibroblasts were able to resist the influence of the cancer-associated extracellular matrix. Then again, if the active α5β1-integrins were directed inside the cells, healthy cells turned into cancer-associated fibroblasts. With this information in hand, Franco-Barraza et al. examined tumor samples from over a hundred pancreatic cancer patients using a new microscopy-based technique that distinguishes cancer cells from stroma cells. The analysis confirmed the pattern observed in the laboratory: those patients who appeared to produce more normal extracellular matrix and have active α5β1-integrin localized mostly to the surface of the cells survived longer without the cancer returning than those patients who lacked these stroma traits. Samples from patients with kidney cancer also showed similar results and, as before, an altered extracellular matrix was linked to a worse outcome of the disease. Together these findings suggest that if future studies uncover ways to relocate or maintain active α5β1-integrin to the cell surface of fibroblasts they could lead to new treatments to restrict the growth of tumors in cancer patients. DOI: http://dx.doi.org/10.7554/eLife.20600.002

The key to the success of surgical navigation based on computer-aided design and computer-aided manufacturing (CAD/CAM) planning is the registration process. This has to be precise and adapted to the surgical needs. However, the application of a conventional rigid skull-fixed navigation star for accurate registration is limited for use in the paediatric population, because of the risk of unstable fixation, dural perforation, and intracranial bleeding. The authors describe their experience with a non-invasive reference headband that was used in combination with a custom-made acrylic resin dental registration splint for resection of a rare infraorbital zygomatic desmoplastic fibroma in a 2-year old patient. This approach appears not to have been reported in the literature to date.

Cranial desmoplastic fibroma (DF) is extremely rare and only 20 cases, including only 7 pediatric cases, have been reported previously. We describe the first case of a child with cranial DF that increased in size over a short-term and recurred after resection. The aim of this case report was to discuss the clinical, radiological, and histological characteristics and optimal treatment for this rare and aggressive skull tumor.