Desmoplastic Fibroma in the Distal Humerus of a 14-Year-Old Boy: A Case Report.

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.

Desmoplastic Fibroma: A Rare Pathological Midshaft Femoral Fracture Treated With Resection, Acute Shortening, and Re-lengthening: A Case Report.

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.

Factores de riesgo para la recidiva local de la fibromatosis / Risk factors for local recurrence of fibromatosis

Objetivo. Valorar los factores clínicos, radiológicos e histológicos que pueden predecir la recidiva local de fibromatosis. Métodos. Hemos realizado un estudio retrospectivo de 51 pacientes con diagnóstico de fibromatosis en nuestra institución desde 1983 hasta 2014. La media de seguimiento es de 83 meses. Hemos estudiado parámetros clínicos, localización, profundidad, tamaño, márgenes quirúrgicos e índice de proliferación (Ki-67) del tumor. Asimismo, hemos valorado el riesgo de recidiva en función del tratamiento adyuvante y la relación del tratamiento con la funcionalidad del paciente. Resultados. Hemos observado diferencias estadísticamente significativas en cuanto a la profundidad (p=0,003) y la localización (p<0,001) como factores de riesgo de recidiva local. No existen diferencias estadísticamente significativas en cuanto a edad, sexo, tamaño, márgenes quirúrgicos ni tratamientos adyuvantes, ni en el Musculoskeletal Tumor Society Score en función del tratamiento recibido. El Ki-67 tiene una media de 1,9% (rango 1-4) y su valor no se asocia con el riesgo de recidiva. Discusión. Los tumores profundos a la fascia y los localizados en extremidades son más agresivos que los localizados superficialmente y en el tronco. El Ki-67 no tiene valor predictivo en las recidivas de la fibromatosis. La radioterapia, la quimioterapia u otros tratamientos adyuvantes como el tamoxifeno no han sido eficaces en el control local de la enfermedad. La gran cantidad de recidivas, incluso en pacientes con resecciones adecuadas, induce a plantear la posibilidad de una actitud expectante en tumores asintomáticos o en enfermedad estable (AU)

Objective. To evaluate the clinical, radiological and histological factors that can predict local recurrence of fibromatosis. Methods. A retrospective study was conducted on 51 patients diagnosed with fibromatosis in this hospital from 1983 to 2014. The mean follow-up was 83 months. A study was made of the clinical parameters, location, depth, size, surgical margins, and proliferation index (Ki-67). An evaluation was also made of the risk of recurrence depending on the adjuvant treatment and the relationship between treatment and patient functionality. Results. Tumour location and depth were identified as risk factors for local recurrence, showing statistically significant differences (P<.001 and P=.003, respectively). There were no statistically significant differences in age, gender, size, surgical margins, or adjuvant treatments, or in the Musculoskeletal Tumour Society Score according to the treatment received. The mean Ki-67 was 1.9% (range 1-4), and its value was not associated with the risk of recurrence. Discussion. Deep fibromatosis fascia tumours, and those located in extremities are more aggressive than superficial tumours and those located in trunk. The Ki-67 has no predictive value in local recurrence of fibromatosis. Radiotherapy, chemotherapy, or other adjuvant treatments such as tamoxifen have not been effective in local control of the disease. Given the high recurrence rate, even with adequate margins, a wait and see attitude should be considered in asymptomatic patients and/or stable disease (AU)

Matrix-regulated integrin αvß5 maintains α5ß1-dependent desmoplastic traits prognostic of neoplastic recurrence.

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 α5ß1-integrin. Mechanistically, we established that TGFß is required for D-ECM production but dispensable for D-ECM-induced naïve fibroblast-to-CAF activation, which depends on αvß5-integrin redistribution of pFAK-independent active α5ß1-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 α5ß1-integrin distinguish patient-protective from patient-detrimental desmoplasia and foretell tumor recurrences, suggesting a useful new prognostic tool.

Desmoplastic fibroma of the rib with cystic change: a case report and literature review.

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 ß-catenin cytoplasmic/nuclear accumulation was detected, and no ß-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.

Desmoplastic fibroma of the spine causing severe mediastinal compression and brachial plexus encasement: report of 2 cases.

Desmoplastic fibroma (DF) is a rare bone tumor that accounts for about 0.1%-0.3% of all bone tumors. It is typically characterized as slow growing, but in rare cases it can proliferate extensively and exhibit locally aggressive characteristics. It is found most commonly in the appendicular skeleton and rarely in the axial skeleton. The authors present the cases of 2 women in their 20s with DF originating from the cervicothoracic spine. Both tumors intimately involved the brachial plexus and caused significant impingement of the mediastinum resulting in cardiopulmonary compromise. Both patients underwent hemiclamshell thoracotomies for tumor resection, and in both cases subtotal resection was performed given the encasement of the brachial plexus. Although DF is a benign process, it can be locally aggressive and proliferate at extensive rates. The authors describe these 2 cases, review the literature, and discuss management.

Desmoplastic fibroma: report of rare lesion in unusual craniofacial location.

Desmoplastic fibroma (DF) is a benign but aggressive intraosseous tumor. These lesions are categorized as central tumors of bone. They are composed of small fibroblasts in a setting of abundant extracellular material, which is rich in collagen. DF represents fewer than 0.1% of all bony tumors. They can be found in any part of the skeleton. Based upon on our literature review, we believe this is the second reported case of desmoplastic fibroma occurring in the zygoma area.

Fibromatosis arising in association with neuromuscular hamartoma of the mandible.

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.

Registro Andaluz de la Poliposis Adenomatosa Familiar. Análisis de los pacientes incluidos / No disponible

Objetivos: Valorar las características fenotípicas y genotípicas de los pacientes incluidos en el Registro Andaluz de la poliposis adenomatosa familiar, la relación genotipo/fenotipo y el impacto del Registro en la frecuencia de cáncer colorrectal de los familiares registrados. Material y métodos: Estudio descriptivo de 77 pacientes con PAF, pertenecientes a 33 familias, incluidos en una base de datos centralizada a la que tienen acceso los responsables de los hospitales participantes, previa firma de cartas de confidencialidad. Todos los estudios genéticos se realizan en el Servicio de Inmunología de nuestro Hospital. Resultados: 77 pacientes registrados (50,6% varones): 31 probandos, edad media: 32 años (13-51) y 46 familiares afectos, edad media 21,8 años (6-55). Estudio genético informado en 68/77 con resultado positivo en 92,6%. Cáncer colorrectal al diagnóstico en diez probandos (32,2%) y 2 familiares afectos (4,3%), diferencia estadísticamente significativa (p < 0,05). Se observó afectación de tramos altos en 30/61 (49%), tumor desmoides en 7/77 (9,1%) e hipertrofia del epitelio pigmentario de la retina en 23/35 (65,7%). El 86,7% de los pacientes con esta alteración mostraron mutaciones entre los codones 454 y 1.019, relación estadísticamente significativa (p < 0,05). Conclusiones: El Registro Andaluz ha permitido ofrecer el diagnóstico genético en todas las familias afectas independientemente de su provincia de origen, mejorar el cribado, iniciar medidas preventivas precozmente y disminuir la frecuencia de cáncer colorrectal al diagnóstico en los familiares afectos registrados. La relación de la hipertrofia congénita del epitelio pigmentario de la retina con determinadas mutaciones es la única relación feno-genotípica con significación estadística(AU)

Objective: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. Material and methods: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. Results: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51) and 46 relatives at risk with a mean age of 21.8 years (6-55). Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%). Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05). Gastrointestinal involvement was observed in 30/61 (49%), desmoid tumors in 7/77 (9.1%) and congenital hypertrophy of the retinal pigment epithelium in 23/55 (65.7%). 86.7% of patients with this alteration showed mutations between codons 454 and 1019, with a statistically significant correlation ((p< 0.05). Conclusions: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic- genotypic correlation with statistical significance(AU)

Ameloblastoma desmoplásico / Desmoplastic ameloblastoma

Presentamos un caso de ameloblastoma desmoplásico en una mujer de 32 años que afectaa la región media del maxilar superior. Se describen las características específicas, tantohistológicas como clínicas, de esta variante de ameloblastoma, y se insiste en su imagenradiológica similar a la de una lesión fibroósea benigna. Se indica la misma conducta terapéuticaque para el resto de los ameloblastomas intraóseos sólidos(AU)

We report a case of desmoplastic ameloblastoma in a 32 year-old female patient affectingthe region half of the upper jaw. We describe the specific characteristics, both histologicaland clinical of this variant of ameloblastoma, insisting its radiological image similar to thatof a benign fibroosseous lession. We indicate the same therapeutic conduct for the rest ofthe solid intraosseous ameloblastomas(AU)

Fibromatosis mamaria en el varón / No disponible

Presentamos el caso de un varón de 79 años que consultó por una tumoración en la mama izquierda compatible con carcinoma, tanto en la exploración física como en los hallazgos mamográficos y ecográficos. La fibromatosis o tumor desmoide es un tumor de origen mesenquimatoso con un comportamiento localmente agresivo. La presentación extraabdominal en la mama es rara, especialmente en el varón. Su diagnóstico es histológico y su tratamiento consiste en una exéresis amplia(AU)

We report a case of a 79 years old man who presented with a left breast tumor, clinically, ultrasonographically and mammographically compatible with carcinoma. Fibromatosis or desmoid tumor is a locally aggressive mesenchymal tumor. Extra-abdominal location in breast is not common, specially in men, with a very few reported cases. Diagnosis is histological, and the treatment is wide excision(AU)

Tumor desmoplástico de células pequeñas y redondas abdominal: hallazgos en tomografía computarizada y correlación anatomorradiológica en 3 casos / Desmoplastic small round cell tumor of the abdomen: CT findings and radiologic-pathologic correlation in 3 cases

Se describen los hallazgos en la tomografía computarizada (TC) del tumor desmoplástico de células pequeñas, redondas y azules (TDCPR) abdominal en 3 pacientes.La presencia de 1 o varias masas de densidad de partes blandas, con localización intraperitoneal, sin aparente origen en un órgano abdominal fue el hallazgo radiológico más frecuente. En un primer caso se encontró una única masa peritoneal localizada en el mesenterio, entre el estómago y el páncreas. Otro caso presentó una masa pélvica intraperitoneal localizada en el espacio retrovesical. En un tercer caso se observó una gran masa tumoral que ocupaba casi la totalidad de la cavidad peritoneal. En 2 pacientes, en el momento del diagnóstico, se identificaron múltiples metástasis hepáticas y adenopatías retroperitoneales. El diagnóstico se confirmó por análisis histológico en los 3 casos. El TDCPR debe sospecharse en varones adolescentes y adultos jóvenes que presentan múltiples masas peritoneales de densidad de partes blandas heterogéneas (AU)

We describe the CT findings of abdominal desmoplastic small round cell tumor (DSRCT) in three patients.The most common imaging finding was the presence of single or multiple soft-tissue density intraperitoneal masses without apparent origin in an abdominal organ. In the first patient, a single peritoneal mass was located in the mesentery between the stomach and pancreas. In the second patient, an intraperitoneal pelvic mass was seen in the retrovesical space. In the third patient, a large homogeneous soft-tissue mass that nearly filled the entire peritoneal space was found. Two patients had multiple liver metastases and adenopathies at the time of diagnosis. The diagnosis was confirmed with CT-guided percutaneous biopsies in all three cases. DSRCT should be suspected in young men with multiple bulky heterogeneous soft-tissue masses (AU)

Case report: desmoplastic fibroma of the mandible in a child presenting with TMJ dysfunction.

BACKGROUND: Desmoplastic fibroma of bone is a rare intraosseous benign but locally aggressive tumor of connective tissue origin. The lesion may affect the metaphyses of the long bones but it may also involve the skull bones and more specifically the mandible, with most lesions appearing in the ramus-angle area. Treatment is surgical although additional chemotherapy or radiation has been applied. CASE REPORT: A 10-year-old boy initially presented with restriction and deviation of mouth opening. Clinical and radiological examination revealed a tumor-like lesion of the mandible extending into the soft tissues, which on biopsy proved to be a desmoplastic fibroma. TREATMENT: The surgical treatment included peripheral ostectomy of the mandible, via an intraoral approach, for the removal of the lesion and restoration of the bone defect with an iliac bone autograft. FOLLOW-UP: The high recurrence rate of this type of lesion, demands a strict follow-up schedule. In the case presented, 5 years post-operatively, there are no signs of local recurrence. CONCLUSION: Changes in mouth opening when not attributed to obvious reasons, such as trauma, should make a dentist suspicious and lead to further investigation. In the case presented, a central lesion was revealed in the radiograph and the patient was referred and treated early. Extended surgical removal of the tumor, with wide margins, proved to be the appropriate treatment.

Desmoplastic neurotropic melanoma in a patient with trigeminal neuralgia: FDG PET/CT and MRI.

A 51-year-old man presented with a hard subcutaneous nodule adhering to the underlying bone structures of the left eyelid in 2004. Histopathology showed a desmoplastic neurotropic melanoma (DNM) with perineural invasion. Patient presented with a first recurrence in October 2005, which was treated by surgery. In August 2006 he presented with trigeminal neuralgia of the left face in the area innervated by the first and second branches of the trigeminal nerve. A PET scan clearly shows the tumoral hypermetabolism of the subcutaneous recurrence of the neurotropic melanoma with invasion of the second or maxillary branch that follows the nerve up to the trigeminal ganglion, which was detected despite the physiological high uptake in the temporal lobe. MRI confirms the invasion and a second PET and MRI 6 months later done to evaluate resectability showed progressive disease. DNM is a rare subtype of spindle cell melanoma. It corresponds to dermal proliferation of desmoplastic cells of neural differentiation. Unlike other melanomas, however, survival for DNM may be better compared with other forms of melanoma. This rare case report presents PET imaging involving cranial nerve invasion by this uncommon melanoma subtype.

Fibroma desmoplásico de mandíbula asociado a esclerosis tuberosa. Revisión de la literatura y presentación de un caso / Desmoplastic fibroma of the jaw associated with tuberous sclerosis. Literature review and case report

La esclerosis tuberosa es una anomalía congénita del desarrolloembrionario que se transmite de forma autosómica dominante caracterizadapor la presencia por trastornos neurológicos, cutáneos o dermatológicos,y retraso mental. Se pueden afectar otros órganos y sistemas, ydar manifestaciones orofaciales. La lesión a nivel del esmalte dental constituyela lesión intraoral más frecuente. Rara vez se pueden encontrar lesionesóseas en los maxilares. El fibroma desmoplásico es un infrecuente tumorfibroso intraóseo localmente agresivo de lento crecimiento, que se asociamuy rara vez a la esclerosis tuberosa. Presentamos el caso clínico de unpaciente de 33 años afecto de esclerosis tuberosa con una lesión en la mandíbuladiagnosticada como fibroma desmoplásico. Se discuten los métodosdiagnósticos, presentación clínica y tratamiento(AU)

Tuberous sclerosis is a congenital anomaly of embryonicdevelopment with an autosomal dominant inheritance. It ischaracterized by the presence of neurologic and dermatologicdisorders and mental retardation. It can affect other organs andsystems and produce orofacial manifestations. Dental enamel defectsare the most frequent intraoral lesion. Bone lesions rarely occur inthe upper jaw. Desmoplastic fibroma is an infrequent, slow-growing,locally aggressive intraosseous fibrous tumor that rarely is associatedwith tuberous sclerosis. We report the clinical case of a 33-year-oldman with tuberous sclerosis and a jaw lesion diagnosed asdesmoplastic fibroma. The diagnostic methods, clinical presentation,and treatment are discussed(AU)

Tricoepitelioma desmoplásico. Presentación de dos casos / Desmoplastic trichoepithelioma: presentation of two cases

El tricoepitelioma es una neoformación benigna diferenciada hacia el folículo piloso, que clínicamente puede presentarse en forma solitaria, múltiple o desmoplásica. Desde el punto de vista histopatológico plantea algunas dificultades diagnósticas con el carcinoma basocelular. Presentamos 2 casos de tricoepitelioma desmoplásico, un raro tumor anexial con incidencia estimada de 2 por 10.000. El tricoepitelioma desmoplásico es una lesión benigna, clínica e histológicamente parecida a otras dermatosis, que supone un auténtico desafío diagnóstico

Trichoepithelioma is a benign neoformation with hair follicle differentiation that may clinically present in solitary, multiple or desmoplastic form. From a histopathological standpoint, it poses some diagnostic difficulties with basal cell carcinoma. We present two cases of desmoplastic trichoepithelioma, a rare adnexal tumor whose incidence is estimated at 2 per 10,000. Desmoplastic trichoepithelioma is a benign lesion, clinically and histologically similar to other dermatoses, and presents a true diagnostic challenge

Autologous stem cell transplantation for high-risk Ewing's sarcoma and other pediatric solid tumors.

The prognosis for many pediatric and young adult patients with solid tumors that have metastasized at the time of diagnosis or have relapsed after therapy remains very poor. The steep dose-response curve of many of these tumors to alkylating agents makes myeloablative chemotherapy followed by autologous stem cell transplantation (ASCT) an attractive potential therapy. The role of ASCT for these high-risk patients is yet to be conclusively determined. We have transplanted 36 patients on two consecutive protocols with a variety of histological diagnoses. Overall survival (OS) was 63% (95% CI: 47-79%) at 1 year and 33% (95% CI: 16-50%) at 3 years. Patients with a diagnosis of Ewing's sarcoma (ES) or desmoplastic small round cell tumor (DSRCT) had significantly better survival than those with other diagnoses with estimated 3-year OS of 54% (95% CI: 29-79%) for this group of patients (P = 0.03). There were two transplant-related deaths both attributable to hepatic veno-occlusive disease. Median follow-up among survivors is 3.5 years (range: 0.6-7.9 years). These data justify continued investigation of ASCT as a consolidation therapy in patients with metastatic or relapsed ES and DSRCT.

Desmoplastic fibroma-like tumor of maxillofacial region associated with tuberous sclerosis.

Desmoplastic fibroma is a rare primary tumor of bone that histologically and biologically mimics the extra-abdominal desmoid tumor of soft tissue. It usually presents in patients during the first three decades of life and often involves the mandible or long bones of the skeleton. Its clinical behavior is characterized by a locally aggressive, infiltrating, and destructing course, often with invasion of surrounding tissues but without metastasis. We present herein the clinicopathological features of a desmoplastic fibroma-like tumor involving the left maxillofacial region in a 14-year-old Hispanic boy with tuberous sclerosis.