A case report of desmoplastic fibroma in a three-year-old black African girl

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.

DESMOPLASTIC FIBROMA OF GNATHIC BONES: A SYSTEMATIC REVIEW

• Lesions of fibrous origin include those tumors of fibrogenic and fibrohistiocytic origin. • Tumors of fibrogenic origin are those that produce collagen and demonstrate absence of bone and cartilage formation • Desmoplastic fibroma and fibrosarcoma make up the fibrogenic tumor category. • Desmoplastic fibroma is a rare benign tumor often associated with recurrence. • Desmoplastic fibroma is also one of those rare lytic bone tumors that demonstrate predominantly low signal intensity on T2-weighted MR images, reflecting its collagenous nature. • Microscopically, differentiation may be difficult between desmoplastic fibroma and a low-grade fibrosarcoma, with the absence of herringbone pattern and pleomorphism being the distinguishing factor. • Tumors of fibrohistiocytic origin encompass both benign and malignant fibrous histiocytoma. • Fibrohistiocytic tumors are surrounded in controversy, which is further underscored by the fact that the rare entity of benign fibrous histiocytoma is histologically identical to nonossifying fibroma (NOF), with clinical and radiographic features and location being the distinguishing factors between the two. • Fibrosarcoma and malignant fibrous histiocytoma (MFH) are rare primary bone tumors with overlapping histologic and radiographic appearance. • Only a close histological examination may differentiate fibrosarcoma and malignant fibrous histiocytoma.

What is your diagnosis? Fine-needle aspirate biopsy from a skin mass on the distal metatarsus of a dog.

Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft tissue fibromatosis. It rarely involves the small bones of the hand. We describe an extremely rare case of desmoplastic fibroma of the proximal phalanx of the hand in a patient who presented with an aggressively enlarging but painless mass on the left ring finger. Radiological features suggested malignancy; however, an initial biopsy revealed fibrotic tissue. Trans-metacarpal amputation of the ring and little fingers and soft tissue reconstruction were performed using a local ulnar-based flap of the little finger. The final histopathological evaluation revealed desmoplastic fibroma. Aggressively growing masses in the hand should be treated according to a sarcoma management protocol, and desmoplastic fibroma should be included in the differential diagnosis.

Desmoplastic fibroma is a very rare primary tumor of bone, closely related to aggressive fibromatosis of soft tissue. Although considered a benign lesion, it is locally destructive, can extend into the soft tissues, and has a high rate of local recurrences after incomplete surgical excision. Recognition of this entity is important to ensure proper surgical treatment. According to the published data, the tumor is most common in the long tubular bones (56%), the mandible (26%), and the pelvis (14%). Rib involvement by desmoplastic fibroma is extremely rare, and to our knowledge, only 3 cases have been reported in the literature to date. We present the case of a desmoplastic fibroma in the rib of a 19-year-old man, adding a fourth case to the previously reported cases involving this unusual location. The clinical history and the radiological and pathologic findings are presented.

Desmoplastic fibroma is a very rare primary tumor of bone, closely related to aggressive fibromatosis of soft tissue. Although considered a benign lesion, it is locally destructive, can extend into the soft tissues, and has a high rate of local recurrences after incomplete surgical excision. Recognition of this entity is important to ensure proper surgical treatment. According to the published data, the tumor is most common in the long tubular bones (56%), the mandible (26%), and the pelvis (14%). Rib involvement by desmoplastic fibroma is extremely rare, and to our knowledge, only 3 cases have been reported in the literature to date. We present the case of a desmoplastic fibroma in the rib of a 19-year-old man, adding a fourth case to the previously reported cases involving this unusual location. The clinical history and the radiological and pathologic findings are presented.

Fibrome desmoïde mandibulaire : difficultés diagnostiques et thérapeutiques

Desmoplastic fibroma is a rare benign primary bone tumor, histologically identical to the extra-abdominal desmoid tumor of soft tissues. The incidence in major series of bone tumors is 0.1%-0.3%. In the present study 18 cases from the files of the Netherlands Committee on Bone Tumors are reported, with an emphasis on the radiographic features. Eight female and ten male subjects were affected, with a fairly even age distribution from the second to the seventh decade of life. The most frequent sites of involvement were the femur and the pelvis. Radiographically the lesions nearly always demonstrated benign features with respect to pattern of destruction, margins, and reactive bone formation; however, soft tissue extension was sometimes present. Although desmoplastic fibroma usually presents with pain or swelling, in 5 of the 18 cases the existence of the lesion was an accidental finding, and in 2 cases the patient had long-standing, vague complaints of pain. Though overall benign radiographic features may support the final diagnosis, the main and often troublesome histological differential diagnosis is of a low-grade fibrosoma. En bloc resection is the treatment of choice in view of the high incidence of recurrence after curettage.

Desmoplastic fibroma of bone: an immunohistochemical study including β-catenin expression and mutational analysis for β-catenin

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. 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 5years 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. 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.

Objective To investigate the pathological characteristics, diagnosis, treatment decision and short-term curative effect of abdominal desmoplastic small round cell tumor. Methods The clinical data of a case of desmoplastic small round cell tumor admitted to Gansu provincial people′s Hospital in April 2018 were analyzed retrospectively.The clinical manifestations, pathological features, diagnosis and differential diagnosis, treatment and prognosis of desmoplastic small round cell tumor were summarized and analyzed. Results The patient was successfully treated with maximum tumor reduction.The operation time was 360 minutes.The estimated blood loss during operation was 200 ml, and no blood was transfused during operation.The abdominal drainage tube was removed on the 8th day after operation and the liver function recovered well.Postoperative pathology: (retroperitoneal) small round cell malignant tumor.Combined with clinical and immunohistochemical staining results: highly considered: desmoplastic small round cell tumor.The patient was discharged on the 16th day after operation.The patient was followed up for 4 months and the tumor recurred and liver metastasis.The follow-up period is now up to October 2018. Conclusion Desmoplastic small round cell tumor is a rare and highly malignant soft tissue small cell tumor with poor prognosis.Imaging examination and detection of tumor markers have no specificity and diagnose of it is difficult.Complete resection of the tumor and combined chemotherapy can improve the prognosis of the patients, but the prognosis is still not satisfactory, and more effective treatment decisions still need to be explored. Key words: Desmoplastic Small Round Cell Tumor; Chemotherapy; Histopathology

Desmoplastic small round cell tumor (DSRCT) is a rare and high malignant soft tissue tumor with very poor prognosis. It usually occurs in the abdominopelvic cavity of adolescents and young males. DSRCT is prone to occur distant metastasis, mainly in the liver and lung. The histopathological manifestation is featured with nests of small round blue cells separated by desmoplastic stroma. DSRCT can co-express epithelial, neural and mesenchymal markers. The molecular characteristic of DSRCT is the production of EWS-WT1 fusion protein via the translocation of chromosome t (11; 22) (p13; q12). Treatments of DSRCT include radical resection or cytoreductive surgery, high intensity systemic chemotherapy, local radiotherapy and hyperthermic intraperitoneal chemotherapy. Key words: Diagnosis; Therapy; Desmoplastic small round cell tumor

Background: Desmoplastic fibroma is a rare bone tumor especially located in the jaw. This report describes the case of a three and a half-year old boy affected with a large desmoplastic fibroma on the left side of his mandible. Methods: The mandible was partially removed and simultaneously reconstructed with a bone graft from the iliac crest. A graft from the suralis nerve substituted the mandibular nerve. Results: There occurred no complications post operation, and the achieved jaw function, occlusion and facial symmetry were normal. The patient did not suffer any recurrence. Conclusions: Partial resection and simultaneous reconstruction of the mandible, using autogenous transplants of bone and suralis nerve, are a suitable therapy, and yield acceptable, functional and aesthetic results.

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.