Desmoplastic fibroma in a child: a 9-year follow-up case report.

BACKGROUND: Desmoplastic fibroma is an extremely rare primary bone tumor. Its characteristic features include bone destruction accompanied by the formation of soft tissue masses. This condition predominantly affects individuals under the age of 30. Since its histology is similar to desmoid-type fibromatosis, an accurate diagnosis before operation is difficult. Desmoplastic fibroma is resistant to chemotherapy, and the efficacy of radiotherapy is uncertain. Surgical excision is preferred for treatment, but it entails high recurrence. Further, skeletal reconstruction post-surgery is challenging, especially in pediatric cases. CASE PRESENTATION: Nine years ago, a 14-year-old male patient presented with a 4-year history of progressive pain in his left wrist. Initially diagnosed as fibrous dysplasia by needle biopsy, the patient underwent tumor resection followed by free vascularized fibular proximal epiphyseal transfer for wrist reconstruction. However, a histological examination confirmed a diagnosis of desmoplastic fibroma. The patient achieved bone union and experienced a recurrence in the ipsilateral ulna 5 years later, accompanied by a wrist deformity. He underwent a second tumor resection and wrist arthrodesis in a single stage. The most recent annual follow-up was in September 2023; the patient had no recurrence and was satisfied with the surgery. CONCLUSIONS: Desmoplastic fibroma is difficult to diagnose and treat, and reconstruction surgery after tumor resection is challenging. Close follow-up by experienced surgeons may be beneficial for prognosis.

Unraveling the challenges in the diagnosis and management of desmoplastic fibroma of the mandible-a case report.

Desmoplastic fibroma (DF) is an uncommon bone tumor that originates from the mesenchymal tissue and despite being benign, exhibits aggressive behavior locally. The following report describes the case of a 7-year-old boy with a rapidly enlarging swelling on the right side of the mandible. After a thorough clinical examination, radiographic imaging, and histopathological analysis, the diagnosis of DF was confirmed. Treatment planning was formulated considering both the tumor's tendency for local recurrence and the patient's well-being. Due to the patient's young age, segmental resection was not deemed appropriate, and an aggressive curettage and enucleation of the lesion followed by the bone graft was performed instead. The patient was kept under close follow-up for the first month of post-surgery and later reviewed after 3, 6, 9, and 12 months, respectively. Good bone healing was observed on radiographs. The patient did not show any signs of recurrence based on clinical or radiographic assessments and did not exhibit any neurosensory deficits as well.

Superficial desmoplastic fibroblastoma (collagenous fibroma): Clinicopathologic study of 11 cases.

BACKGROUND: Desmoplastic fibroblastoma (collagenous fibroma) is a rare soft tissue tumor that usually arises in the subcutis or skeletal muscle. Cases superficial to fascia are unusual and can cause diagnostic difficulty. We present 11 cases of superficial desmoplastic fibroblastoma involving a wide anatomic distribution. METHODS: Archives were searched using the term "desmoplastic fibroblastoma" over a 10-year period (2012-2022). Cases superficial to fascia were retrieved, and available clinicopathologic features were recorded. Only cases involving the dermis were included. RESULTS: Eleven cases were identified, all of which were received in consultation. Tumors involved the head and neck (2), lower extremity (2), back (2), foot (1), shoulder (1), axilla (1), hand (1), and breast (1). Each consisted of a hypocellular proliferation of bland stellate to spindled fibroblasts set in a collagenous to focally myxoid stroma. The immunohistochemical stains available for review demonstrated SMA positivity (4/7) and negative immunoreactivity for CD34 (0/6), EMA (0/3), desmin (0/3), and S100 (0/7). CONCLUSIONS: Desmoplastic fibroblastoma may present superficially in the dermis to subcutis, posing a potential source of diagnostic difficulty. Recognition of the characteristic histopathologic features of desmoplastic fibroblastoma with judicial use of immunohistochemical stains should allow for accurate diagnosis.

Bilateral collagenous fibroma of the hard palate: a case report and review of the literature.

BACKGROUND: Collagenous fibroma or desmoplastic fibroblastoma is a rare benign fibrous tissue tumor. It usually presents as a painless, slowly growing mass. Collagenous fibroma arises ordinarily inside the subcutaneous tissues or skeletal muscles. Histopathologically, the tumor consists of scattered stellate and spindle cells in a hypovascular collagenous stroma without atypia or infiltration. The oral cavity is a very uncommon site for desmoplastic fibroblastoma. Only 15 published articles in the literature reported the intraoral location. We present a case of collagenous fibroma with a bilateral distribution on the hard palate. This is the second case of bilateral collagenous fibroma after a previously reported one in literature; however, our case was larger, occupying almost the whole palate. We discuss the management of this rare tumor and how we can reach definite diagnosis. CASE PRESENTATION: A 37-year-old Caucasian female patient had a huge bilateral firm palatal mass that caused breathing problems. There was no history of trauma and the patient had no relevant medical history Total surgical excision under general anesthesia was carried out and histopathological examination suggested a benign mesenchymal tumor. Immunohistochemistry was necessary to confirm the tumor origin and to exclude aggressive fibromatosis. A diagnosis of bilateral collagenous fibroma was reached. Six months after surgery, there was no recurring lesion and the patient's health was good. CONCLUSIONS: Collagenous fibroma is a benign fibrous tissue tumor of unknown cause that is treated with simple excision. The prognosis is good with no recurrence. Reaching an accurate diagnosis is mandatory to avoid aggressive treatment since collagenous fibroma may be misdiagnosed as aggressive fibromatosis in case of massive size. Clinicians and pathologists should be aware of this unusual tumor for conservative management without side effects.

Fibrocartilaginous mesenchymoma of pelvis-a potential diagnostic pitfall.

Fibrocartilaginous mesenchymoma (FM) is a rare bone tumor mimicking other fibrocartilaginous lesions on imaging and histologically. Hence, it is difficult to diagnose this entity especially on small biopsies. In this article, we report a case of FM mimicking desmoplastic fibroma on biopsy. A 36-year-old male presented with pain in the left hip. Imaging showed a large expansile lytic lesion involving the acetabulum and pubis. The differential diagnosis was suggestive of giant cell tumor, aneurysmal bone cyst, intraosseous desmoplastic fibroma, and chondrosarcoma. Biopsy revealed a low-grade spindle cell lesion with no evidence of osteoid or chondroid matrix. The lack of cartilaginous nodules in the biopsy prompted a preoperative diagnosis of desmoplastic fibroma. The excised mass showed bland spindle cell proliferation, benign cartilage nodules, and epiphyseal plate-like enchondral ossification suggestive of fibrocartilaginous mesenchymoma. Negative immunostaining for SATB2, CDK4, and MDM2 ruled out low-grade central osteosarcoma. Though GNAS mutations were not performed in this case, rimming of the bony trabeculae at the periphery of the epiphyseal growth plate-like cartilaginous nodule ruled out fibrous dysplasia. The absence of cartilaginous component misleads the diagnosis preoperatively in small biopsies.

Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma.

The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic fibroblastoma is characterised by overexpression of FOSL1. However, previous studies using cytogenetic and molecular techniques did not identify an underlying somatic change involving the FOSL1 gene to explain this finding. Prompted by an unusual index case, we report the discovery of a novel FOSL1 rearrangement in desmoplastic fibroblastoma using whole-genome and targeted RNA sequencing. We investigated 15 desmoplastic fibroblastomas and 15 fibromas of tendon sheath using immunohistochemistry, in situ hybridisation and targeted RNA sequencing. Rearrangements in FOSL1 and FOS were identified in 10/15 and 2/15 desmoplastic fibroblastomas respectively, which mirrors the pattern of FOS rearrangements observed in benign bone and vascular tumours. Fibroma of tendon sheath, which shares histological features with desmoplastic fibroblastoma, harboured USP6 rearrangements in 9/15 cases and did not demonstrate rearrangements in any of the four FOS genes. The overall concordance between FOSL1 immunohistochemistry and RNA sequencing results was 90%. These findings illustrate that FOSL1 and FOS rearrangements are a recurrent event in desmoplastic fibroblastoma, establishing this finding as a useful diagnostic adjunct and expanding the spectrum of tumours driven by FOS gene family alterations. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Fibromatosis subescapular como causa de escápula alada. Presentación de un caso y revisión bibliográfica / Subscapularis fibromatosis as a cause of winged scapula. Case report and literature review

La escápula alada suele producirse por lesiones neurológicas tanto del nervio espinal como del nervio torácico largo. La aparición a causa de un tumor ventral de la escápula dificulta su diagnóstico inicial. Presentamos el caso de una mujer joven, con limitación para la rotación externa del hombro, sin antecedentes traumáticos conocidos, evolución progresiva e imagen compatible con una lesión de partes blandas dependiente de la aponeurosis del músculo subescapular confirmada por biopsia como un tumor desmoide. Aunque se trata de un tumor benigno y autolimitado, tiene una inquietante alta tasa de recidivas después de la resección, por lo que se dispone de numerosos tratamientos y muchos grupos optan por hacer un seguimiento médico estrecho de los factores pronósticos y las limitaciones funcionales del paciente, con lo que obtienen resultados satisfactorios y, en algunas series, superiores a los del tratamiento quirúrgico. Nivel de Evidencia: IV

Winged scapula is usually caused by neurological injuries to both the spinal nerve and the long thoracic nerve. Its presence as a result of a ventral scapular tumor makes initial diagnosis difficult. We present the case of a young woman with limited external shoulder rotation, no known traumatic history, and images consistent with a soft tissue lesion dependent on subscapular muscle aponeurosis, which was confirmed by biopsy as a desmoid tumor. Although it is a benign, self-limiting tumor, it has an alarmingly high rate of relapse after resection, so many treatments are available, and many teams choose to closely monitor the patient's prognostic factors and functional limitations, obtaining satisfactory outcomes and, in some series, superior to those of surgical treatment. Level of Evidence: IV

Desmoplastic Fibroblastoma: A Case of a Rapidly Growing Mass in the Foot.

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.

Unusual Appearance of Nasal Collagenous Fibroma (Desmoplastic Fibroblastoma) on Imaging.

Collagenous fibroma (CF) is a benign soft tissue tumour with good prognosis. Preoperative imaging diagnosis is essential to avoid unnecessarily extended resection, which may result in irreversible functional damage. However, few studies published to date have reported on the imaging features, associated with this condition. We, therefore, present a patient with histologically proven CF on the dorsum of nose, associated with an unusual appearance on magnetic resonance imaging. Low signal intensity on T2-weighted images and rim enhancement on gadolinium-DTPA (Gd-DTPA) enhanced images are reported in some previously reported cases. However, the unique point about this case is the markedly enhanced nodule revealed in the middle part of the lesion five hours after the administration of contrast media. To our knowledge, this is the first description of late gadolinium enhancement features associated with the condition. Key words: Benign, Soft tissue, Collagenous fibroma, Magnetic resonance imaging.

Desmoplastic Fibroma of Radius Managed with Non-Vascularised Fibular Autograft - A Case Report.

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) of the Foot: A Case Report of a Rare Benign Tumor in an Atypical Patient.

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.

FDG PET/CT and Bone Scintigraphy in Desmoplastic Fibroma of the Bone.

ABSTRACT: 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.

Clinical and Imaging Features of Desmoplastic Fibroma of Bone for Correct Diagnosis and Differentiation.

OBJECTIVE: The objective of this study is to analyze the clinical and imaging features of desmoplastic fibroma of bone (DFB) for correct diagnosis. MATERIALS AND METHODS: Twenty patients with DFB confirmed by pathology were enrolled, and the imaging presentations were analyzed. Among 20 patients, plain X-ray was performed in all patients, computed tomography (CT) was performed in 12, and magnetic resonance imaging (MRI) was conducted on eight. The clinical and imaging presentations were analyzed and classified to assist in correct diagnosis. RESULTS: Twenty patients with DFB were retrieved, including eleven males and nine females with an age range of 2-52 years (median 27). The DFB involved the femur in six patients, ilium in five, tibia in four, humerus in two, lumbar vertebra in one, radius in one, and calcaneus in the remaining one. DFB was common in the metaphysis of long bones and could involve the diaphysis and epiphysis. The imaging presentations were divided into four types: the cystic expansile destruction in ten patients, osteolytic destruction in five, mixed destruction in four, and paraosseous destruction in one. CT value was 30 -60 Hu in the lesion area (6 cases CT value45Hu). In eight patients with MRI scanning, the lesion in five patients presented with unevenly equal or low signal on T1WI and unevenly equal or high signal on T2WI, with irregular stripes or patches of low signal on both T1WI and T2WI. In the rest three patients, the lesion was evenly equal or low signal on T1WI and evenly high signal on T2WI. MRI more clearly showed a mass in the adjacent soft tissue and the range of edema in the DFB lesion. CONCLUSION: DFB is a rare tumor with strong local aggressiveness, cystic bone destruction, formation of tumor bone trabeculae, soft tissue masses on imaging presentations, low signals on T1WI and T2WI in the lesion, but no periosteal reaction or calcification, which are helpful for diagnosis of the disease and differentiation from other ones.

A desmoplastic fibroblastoma that developed in the anterior mediastinum: a case report.

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.

Primary desmoplastic fibroblastoma of diaphragm.

Desmoplastic fibroblastoma is an extremely rare benign soft tissue tumor and desmoplastic fibroblastoma originating from the diaphragm has not been documented previously. In our case, we report the first primary diaphragm desmoplastic fibroblastoma.

Desmoplastic fibroma of the Mandible with unusual histopathological features.

Desmoplastic fibroma (DF) is a rare myofibroblastic primary tumor of bone that histologically and biologically mimics the extra-abdominal desmoid tumor of soft tissue. The surgical management of this tumor has been a matter of controversy and its recurrence has been a matter of clinical relevance. In this case report, we describe an unusual case of DF in a 15-year-old male patient who presented with a slow-growing mass in the right posterior mandibular region of 2 years duration. The presence of areas mimicking Giant cell angiofibroma (GCA) is the highlight of the case. The possibility of misdiagnoses is more in early lesions since the available literature shows that immunohistochemistry (IHC) is not of much benefit while differentiating DFs from other spindle cell lesions.

Tumor desmoide abdominal gigante en puerperio: caso clínico y revisión de la literatura / Giant abdominal desmoid tumor during the puerperium: Case report and review of literature

Introducción. Los tumores desmoides o fibromatosis agresiva corresponden a neoplasias mesenquimales poco frecuentes. Son tumores localmente agresivos que ocurren especialmente en jóvenes, no desarrollan metástasis a distancia, pero se asocian con invasión locorregional y alta tasa de recurrencia después de la resección. Su etiología es desconocida, pero se ha asociado al síndrome de Gardner, trauma, embarazo, estados hiperestrogénicos y puerperio. El objetivo de este artículo fue hacer una revisión sobre el tema a propósito de un caso clínico. Caso clínico. Se presenta el caso de una paciente puérpera con progresivo y rápido aumento del volumen abdominal. Se realizó una tomografía computarizada de abdomen y pelvis que confirmó la presencia de una masa intraperitoneal bien definida. La paciente fue operada con escisión de la masa y confirmación histológica de tumor desmoide a partir de la muestra de patología. Discusión. Los tumores desmoides tienen una incidencia de 2 a 4 casos por millón de habitantes por año, con leve predominio en el sexo femenino y representan menos del 3 % de los tumores de partes blandas. Aunque el tumor se puede ubicar a nivel intraabdominal o en la pared, la ubicación más común es en las extremidades. Conclusiones. La sospecha y detección del tumor desmoide es fundamental, así como su adecuado estudio, para determinar el tratamiento quirúrgico como fue realizado en este caso

Introduction. Desmoid tumors or aggressive fibromatosis correspond to rare mesenchymal neoplasms. They are locally aggressive tumors that occur especially in young people, they do not develop distant metastases, but are associated with locoregional invasion and a high recurrence rate after resection. Its etiology is unknown, but it has been associated with Gardner syndrome, trauma, pregnancy, hyperestrogenic states, and puerperium. The objective of this article was to review the topic based on a clinical case. Clinical case. The case of a puerperal patient with progressive and rapid increase in abdominal volume is presented. An abdominal and pelvic CT scan was performed, which confirmed the presence of a well-defined intraperitoneal mass. The patient underwent surgery with excision of the mass and histological confirmation of a desmoid tumor from the pathology sample. Discussion. Desmoid tumors have an incidence of 2 to 4 cases per million inhabitants per year, with a slight predominance in females, and represent less than 3% of soft tissue tumors. Although the tumor can be located intra-abdominal or in the wall, the most common location is in the extremities. Conclusions. The suspicion and detection of the desmoid tumor is essential, as well as its adequate study to determine the surgical treatment as it was done in this case

Sarkomy mekkých tkání: diagnostika a lécba / Soft tissue sarcomas: diagnosis and treatment

A clinical summary of this KDP was published in the Journal of the Ministry of Health of the Czech Republic . Sarcomas are malignant tumors of connective tissues. It is a heterogeneous group of tumors given by a wide spectrum of histotypes with different biological behavior and diverse anatomical localization. As such, sarcomas account for less than 1% of all malignant tumors in adults and about 15% of malignancies in childhood. Soft tissue sarcomas are among the rare tumors that are still on the fringes of general interest. However, patients who develop sarcoma perceive them differently. The basis of the successful treatment of most of them is a quality diagnosis, and above all a well-planned and surgical treatment performed by an erudite operator, in workplaces where this diagnosis is not uncommon. This clinical guideline focuses on 11 areas: Diagnostics Therapy of localized, locally operable soft tissue and visceral sarcomas Therapy of localized, locally inoperable soft tissue and visceral sarcomas Therapy of advanced/generalized, locally operable soft tissue and visceral sarcomas Therapy of advanced/generalized, locally inoperable soft tissue and visceral sarcomas Therapy of recurrent, locally operable soft tissue and visceral sarcomas Therapy of retroperitoneal sarcomas GIST therapy Therapy of "childhood" sarcomas Desmoid therapy (aggressive fibromatosis) Follow-up care/dispensary.

Sarkomy jsou zhoubné nádory pojivových tkání. Jde o heterogenní skupinu nádoru danou sirokým spektrem histotypu s odlisným biologickým chováním i ruznorodou anatomickou lokalizací. Sarkomy jako takové tvorí necelé 1 % vsech zhoubných nádoru u dospelých a asi 15 % malignit v detském veku. Sarkomy mekkých tkání patrí mezi nádory vzácné, stojící dosud na okraji vseobecného zájmu. Jinak je vsak vnímají pacienti, kterí sarkomem onemocní. Základem úspesné lécby vetsiny z nich je kvalitní diagnostika, a predevsím dobre naplánovaná a erudovaným operatérem provedená chirurgická lécba, a to na pracovistích, pro která tato diagnóza není raritní. Tento klinický doporucený postup je zameren na 11 oblastí: Diagnostika Terapie lokalizovaných, lokálne operabilních mekkotkánových a viscerálních sarkomu Terapie lokalizovaných, lokálne inoperabilních mekkotkánových a viscerálních sarkomu Terapie pokrocilých/generalizovaných, lokálne operabilních mekkotkánových a viscerálních sarkomu Terapie pokrocilých/generalizovaných, lokálne inoperabilních mekkotkánových a viscerálních sarkomu Terapie recidivujících, lokálne operabilních mekkotkánových a viscerálních sarkomu Terapie retroperitoneálních sarkomu Terapie GISTu Terapie sarkomu "detského veku" Terapie desmoidu (agresivní fibromatózy) Následná péce/dispenzarizace.