A 10-year-old male with chest wall Desmoid tumor - a rare tumor with unusual presentation.

Desmoid fibromatosis (DF) is a connective tissue tumor that grows aggressively in musculoaponeurotic tissues. It has an annual incidence rate of 2-4/million and is commonly seen in individuals aged 15 to 60 years, with female predominance. While it can occur in any body part, it is commonly found in the extremities, abdominal wall, and abdominal mesentery. But it rarely develops in the chest wall. The cause of the tumor is unknown. However, trauma to the tumor site has been identified in 25% of known cases. The primary treatment is surgical resection. Local recurrence after surgical excision is common. Our study highlights the case of a 12-year-old male patient diagnosed with a desmoid tumor on the chest wall 2 years ago, at the age of 10 years, after mild trauma. The tumor was successfully managed with surgery without radiotherapy treatment and no recurrence was observed in the last 2 years.

A Spindle Cell Tumour that Took us for a Spin!: A Case Report and Short Review of Management of Head and Neck Desmoid Fibromatosis.

Head and neck desmoid fibromatosis is a rare type of benign but locally aggressive tumour that has varied presentations and is difficult to manage with a high chance of causing morbidity to the patient. This report highlights the importance of proper diagnosis and surgical planning before embarking on a strenuous surgical resection.

Dual-phase contrast-enhanced multislice computed tomography scans play a key role in the diagnosis of abdominal wall desmoid-type fibromatoses.

BACKGROUND: Abdominal wall desmoid-type fibromatoses (AWDF) are occasionally encountered in clinical work, but related CT reports are rare, and most cases were misdiagnosed as malignant tumors. OBJECTIVE: We aimed to determine the diagnostic value of multislice computed tomography (MSCT) in relation to the clinical diagnosis of AWDF. METHODS: The medical records of 14 patients whose pathology results provided initial confirmation of AWDF were reviewed, and data describing their clinical characteristics, tumors' MSCT characteristics, and the condition of the surrounding tissues were analyzed and summarized retrospectively. Intraobserver and interobserver reproducibilities were evaluated. RESULTS: AWDF tended to occur in women of childbearing age (24-32 years). They occurred more frequently during the first year following pregnancy. The mean disease duration was 5.64 ± 3.78 months. All isolated tumors were growing along the musculoaponeurotic layer, and their maximum diameters were between 32 and 76 mm. Tumors' capsules were incomplete, and although the tumors infiltrated the surrounding muscles, the surrounding fat tissue and vessels were not infiltrated. None of the patients' tumors showed cystic degeneration, calcification, necrosis, or peritumoral edema. The tumors had slightly lower densities on the pre-contrast enhancement scans and mild-to-moderate enhancement after contrast enhancement. All tumors contained ribbon-like structures, and approximately 65% of the tumors encircled vascular structures. CONCLUSION: Dual-phase contrast-enhanced MSCT scans were associated with a high level of diagnostic efficacy for AWDF. The abdominal wall masses grew along the musculoaponeurotic layer, which, together with the ribbon-like structures within the tumors, should prompt clinicians to consider the presence of AWDF.

Selective Intra-Arterial Doxorubicin Eluting Microsphere Embolization for Desmoid Fibromatosis: A Combined Prospective and Retrospective Study.

Desmoid fibromatoses (DFs) are locally aggressive tumors composed of monoclonal fibroblasts within an abundant extracellular matrix. Systemic doxorubicin treatment is effective, but toxic. We investigated arterial doxorubicin eluting embolization (DEE), an approach characterized by high drug concentrations in the tumor alongside limited systemic drug exposure. The primary and secondary endpoints were radiological response using MRI and RECIST 1.1, respectively. The study included 24 patients (median age, 24; interquartile range, 16-34 years). Data were collected prospectively for 9 patients and retrospectively for 15 patients. The most frequent tumor locations were chest/abdomen wall and neck/shoulder/axilla (29% each). Of 24 patients, 7 (24%) were treatment naïve, and 17 (71%) had received one or two prior treatments. Patients underwent a median of two treatments (range, 1-4), with a median of 49 mg (range, 8-75) doxorubicin/treatment. Efficacy outcomes were available for 23 patients. With a median follow-up of 8 months (interquartile range, 3-13), median tumor volumes decreased by 59% (interquartile range, 40-71%) and T2 signal intensity decreased by 36% (interquartile range, 19-55%). Of 23 patients, 9 (39%), 12 (52%), and 2 (9%) had a partial response, stable disease, and progressive disease, respectively. DEE was safe and well tolerated, with one reported grade 3-4 adverse event (cord injury). In conclusion, DEE was safe and achieved rapid clinical/volumetric responses in DFs.

Postoperative lumbar fusion paraspinal desmoid tumor case report.

Desmoid tumors are rare soft tissue tumors with slow growth and high recurrence rates. They typically arise sporadically in the abdominal wall or retroperitoneum, with a few rare cases reported after trauma and surgery. Postoperative desmoid tumors in adults are very rare with only 7 reported cases involving the paraspinal location. This is the first reported case of a male patient with a postoperative paraspinal desmoid tumor.

Imaging findings of a biopsy-proven desmoid tumor of the axilla in a young female.

Desmoid tumors (fibromatoses) are rare but locally aggressive tumors that do not metastasize. They are non-encapsulated, well-differentiated lesions made of fibroblasts and collagen, which mainly appear in the mesentery and abdominal wall. Rarely, these tumors can also occur in breasts, making up approximately 0.2% of all breast neoplasms. Treatment typically includes surgical excision and/or medical management. We describe a case of a 31-year-old female presenting with a mass in her left axilla that was biopsy proven to be a desmoid tumor. In this case report, we discuss the various imaging findings present on ultrasound, mammography, computed tomography, and magnetic resonance imaging.

Fibromatosis tipo desmoide de apéndice cecal: reporte de caso inusual y revisión de la literatura / Appendicular desmoid tumor: unusual case and review of the literature

RESUMEN Antecedente : La fibromatosis tipo desmoide es un proceso neoplásico benigno no encapsulado localmente invasivo y agresivo, que se origina de la proliferación de fibroblastos y miofibroblastos aparentemente normales. La localización más frecuente de la fibromatosis es extra-abdominal (60%), pared abdominal (25%) e intra-abdominal (8-15%), en raras ocasiones puede originarse en las vísceras (0,73%), como el páncreas, unión gastroesofágica, diafragma y apéndice. La incidencia anual de tumor desmoide se estima de 2 a 5 casos por millón. En el presente artículo, reportamos un caso de presentación inusual, originado en el apéndice cecal. Caso : Paciente de sexo femenino de 41 años con dolor pélvico agudo, que ingresa a sala de operaciones con diagnóstico clínico y ecográfico de probable tumor de ovario a pedículo torcido. En el intraoperatorio se evidenció una tumoración sólida de 15 cm de diámetro que dependía del apéndice cecal, correspondiendo el estudio anatomopatológico a tumor desmoide de apéndice cecal. Conclusiones : El tumor desmoide puede originarse en diversas localizaciones extra e intra-abdominales, siendo esta última la más rara y agresiva. El diagnóstico preoperatorio exacto es muy difícil y casi siempre los pacientes ingresan al quirófano con sospecha diagnostica de tumoración intraabdominal de etiología desconocida. Los factores de riesgos asociados a su aparición aún no se encuentran caracterizados, siendo la resección quirúrgica completa del tumor -con márgenes quirúrgicos libres (R0)- el tratamiento de elección; sin embargo, el riesgo de recurrencia es alto incluso con la remoción óptima del tumor.

ABSTRACT Background : Desmoid type fibromatosis is a benign neoplastic process non-encapsulated locally invasive and aggressive, which arises from a proliferation of bland-looking fibroblasts and myofibroblasts. The most frequent location of fibromatosis is extra- abdominal (60%), abdominal wall (25%) and intra-abdominal (8-15%), rarely can originate in the viscera (0.73%), such as the pancreas, gastroesophageal junction, diaphragm and appendix. The annual incidence of desmoid tumor is estimated at 2 to 5 cases per million. In this article, we report a case of unusual presentation, originated in the cecal appendix. Case : A 41-year-old female patient with acute pelvic pain, admitted to surgical ward with a clinical and ultrasound diagnosis of probably ovarian pedicle tumor. An explorative laparotomy revealed a solid mass of 15 cm in diameter arising from the cecal appendix, with the anatomopathological study corresponding to a desmoid tumor of the cecal appendix. Conclusions : The desmoid tumor can arise from several extra and intra-abdominal locations, the latter being the rarest and most aggressive. Accurate preoperative diagnosis is very difficult and almost always patients enter to surgery with suspected diagnosis of intraabdominal tumor of unknown etiology. The risk factors associated to its appearance are not yet characterized. The complete surgical resection of the tumor -with free surgical margins (R0)- is the treatment of choice; however, the risk of recurrence is high even with optimal tumor removal.

[Desmoid tumors: Are there still any surgical indications?] / Tumeurs desmoïdes : reste-t-il des indications chirurgicales ?

After an adapted imaging, the diagnosis of a desmoid tumor (DT) is provided by a percutaneous microbiopsy, with a molecular analysis for beta-catenin or APC gene mutation. The therapeutic strategy must be decided in a specialized multidisciplinary tumor board (MTB). Surgery is no longer the first-line treatment for a DT. Except within a surgical complication, active surveillance is offered to the majority of patients, since more than half stabilize or regress after an initial progression, whether the location is peripheral or intra-abdominal. If the localization and/or volume are likely to be functional or life-threatening, medical induction therapy is discussed in MTB, before a local treatment whose potential sequelae would be definitive. Incomplete unplanned resection, recurrence, pregnancy or desmoids occurring in a polyposis context are no longer routine surgical indications. In an emergency setting (occlusion, peritonitis), it is discussed to treat only the mechanical complication and leave the DT in place, if its resection would lead to too much digestive resection, especially in patients who have already undergone colectomy for polyposis. The best indications for surgery are patients who have parietal locations with significant and documented progression, because surgery can be easily completed at the cost of an acceptable morbidity. In localizations where surgery would cause sequelae, medical treatment or other regional loco treatments are discussed in MTB.

The Challenge in the Management of Extremity Fibromatoses: Our Experience.

Desmoid tumours are known for their varied clinical behaviour. Hence, choosing an ideal treatment protocol remains challenging. This is further complicated by the rarity of these neoplasms and high recurrence rates following treatment. In our study, we tried to answer these questions in the background of Indian scenario. This is a retrospective study of 41 patients with extremity fibromatoses who were operated between June 2002 and November 2012. The mean age for all patients was 29.2 years with 30 females and 11 males. The mean duration of follow-up was 4.37 years. Eight patients were margin-positive on final histopathology. Seventeen developed recurrences (41.4%). Ten of these 17 patients underwent repeat surgery. The remaining 7 patients with inoperable recurrence were put on metronomic chemotherapy. The DFS for patients treated with surgical management was 62.6% at 3 years, 54.4% at 5 years and 44% at 10 years. The enigmacy on the tumour biology, natural history and optimal management of fibromatoses continue. Surgery remains the standard treatment and should be attempted only if R0 resection is possible without much morbidity to the patient. Non-surgical modalities also have their role to play in the management of these neoplasms.

CT and MRI findings of desmoid-type fibromatoses / 实用放射学杂志

Objective To investigate the CT and MRI features of desmoid-type fibromatoses(DF).Methods The images of 29 ca-ses with DF proved by pathology were reviewed retrospectively.CT and MRI examinations were performed in 1 5 cases respectively, and both in 1 case.Results The median age was 33.0 years with a male-to-female sex ratio of 1 ︰ 2.2.36 lesions were discovered,among which 26 cases were solitary while 3 cases had multiple focus.1 9 lesions were extra-abdominal,14 ones in the abdominal wall and 3 ones intra-abdominal.The largest diameter of tumors was 13 -1 75 mm.27 lesions displayed ovoid or elongated shape while 9 ones were irregular .The boundary could be clear or unclear.25 lesions extended along muscle planes with consistent long axis.23 focuses grew aggressively,1 6 of which crossed the muscle clearance,while 13 lesions grew expansively.On CT,20 lesions appeared iso-den-sity or slightly hypo-density compared with normal muscles,mostly homogeneous(1 5/20).Most lesions exhibited gadually moderate or obvious enhancement on post-contrast CT,and the enhancement was homogeneous or heterogeneous.1 7 lesions were found on MRI,which presented signal intensity similar to or slightly higher than that of muscles on T1 WI and most were homogeneous(12/1 7);on T2 WI,all were heterogenous with slightly high or high intensity.All lesions demonstrated obvious enhancement on MRI after contrast administration ,and most were heterogeneous(12/1 7).Sheets or bands of low signal were detected within 1 1 lesions with no enhancement.Conclusion DF has some characteristics on CT and MRI,which are valuable for accurate pre-operative diagnosis,and for evaluation of the lesion extent and involvement of adjacent structures.

Cytoplasmic expression of Wilms tumor transcription factor-1 (WT1): a useful immunomarker for young-type fibromatoses and infantile fibrosarcoma.

There is increasing evidence that Wilms' tumor transcription factor-1 (WT1) is expressed in the cytoplasm of neoplastic cells from different benign and malignant tumors. Only a few studies on WT1 cytoplasmic immunolocalization are available in pediatric tumors. The aim of the present study was to investigate immunohistochemically the expression and distribution of WT1 in a large series of soft tissue fibroblastic/myofibroblastic lesions occurring in children and adolescents. Notably WT1 was not expressed in nodular fasciitis and desmoid-type (adult) fibromatosis, while it stained diffusely and strongly in several infantile-type fibromatoses, such as fibrous hamartoma of infancy, myofibroma/myofibromatosis, and lipofibromatosis. Interestingly, WT1 cytoplasmic expression was also found in all cases (10/10) of infantile fibrosarcomas examined. The present study shows that a diffuse WT1 cytoplasmic expression is of complementary diagnostic value to conventional myofibroblastic markers (α-smooth muscle actin; desmin) in confirming diagnosis of young-type fibromatoses or infantile fibrosarcoma and in ruling out both desmoid-type fibromatoses and nodular fasciitis. WT1 cytoplasmic expression in infantile fibrosarcoma is a novel finding which could be exploitable as an immunomarker for this tumor. Although highly sensitive, WT1 cytoplasmic immunostaining is not specific for infantile fibrosarcoma, and thus it should be evaluated in the context of a wide immunohistochemical panel when pathologists are dealing with spindle cell lesions of soft tissues in children and adolescents. Accordingly we recommend that a correct diagnosis of fibroblastic/myofibroblastic soft tissue lesion in pediatric patients is usually achieved on the basis of a careful correlation of morphological and immunohistochemical findings in the appropriate clinical context. The different cellular localization of WT1, namely nuclear, cytoplasmic or nucleo-cytoplasmic, in different benign and malignant tumors supports the hypothesis that this transcription factor plays a complex role in tumorigenesis, likely as a chameleon protein functioning as either a tumor suppressor gene or an oncogene, depending on cellular context.

Fibromatosis agresiva de la pared torácica asociada a implante mamario: a propósito de un caso / Aggressive fibromatosis of the chest wall associated to mammary implant: a case report

La fibromatosis agresiva es una lesión benigna, que comprende el 0,3% de todos los tumores sólidos. A pesar que la pared torácica es un lugar común, este tipo de tumor raramente se ha asociado con los implantes o tejido mamarios. Pocos casos se han descrito en conjunción con un implante de seno. Se presenta el caso de una paciente femenina de 27 años, quien le aparece esta patología dos años después de la colocación de implante mamario

The aggressive fibromatoses is a benign lesion, is not frequent, represent the 0.3% of the all solid tumors. The chest wall was considered a common place for tumors, but this type is rarely associated with the mammary implants. There are few cases reported in conjunction with a mammary implant. We presented a rare clinical case of a feminine patient of 27 years old, to whom apparition of this pathology two years after the collocation of mammary implant

Paquidermodactilia: Presentación de un caso / Pachydermodactyly: case report

La paquidermodactilia (pachy: grueso; dermos: piel: dactylos: dedos) es un tipo de fibromatosis digital benigna, patología rara que afecta sobre todo a varones jóvenes. Su etiología no se conoce bien, pero algunos autores defienden los traumatismos repetidos como principal desencadenante. Presentamos el caso de un varón de 16 años con engrosamiento digital difuso en ambas manos de 6 años de evolución, asintomático. El paciente refirió tener un "tic" en las manos; consiste en el roce muy frecuente entre los dedos. Se trata de una patología benigna cuyo diagnóstico es clínico, por lo que no es necesario realizar pruebas adicionales que prolonguen el número de visitas del paciente al hospital y los trastornos que ello conlleva. Se debe hacer hincapié en el control del hábito por parte del paciente, para evitar traumatismos repetidos y lograr la mejoría del cuadro.

Pachydermodactyly is a type of benign digital fibromatoses, a rare condition that affects mostly young men. The cause is unknown but some authors suggest that traumatism can be involved. A 16-year-old man presented with symmetrical painless swellings on the fingers of both hands. He used to rub his fingers together. The control of living habits must be enphasized in order to avoid repeteated injuries. Hence, our consultation work is with the patient and his family. We describe a new case of pathology with a common clinical diagnosis, whose ignorance could lead us to carry out unnecesary tests involving inconvenience to the patient. It is important to emphasize the modification of the patient's living habits in order to achieve its improvement.

A rare case of superficial polyfibromatosis in a Filipino male adolescent

The superficial fibramatoses are a rare group of mainly benign disorders that clinically manifest as slow progressive dermal hypertrophies. This bewildering group of dermal matrix proliferation is composed of fibrous tissue, fibroblastic cells or spindle stromal cells with varying degrees of cellularity. Skin lesions are usually solitary or localized to a specific site of predilection. This is a case of a 15-year-old Filipino boy, presenting with asymptomatic firm, skin colored to erythematous papules and nodules on his limbs and nose. The lesions slowly worsened, resulting in flexion deformity and limited range of motion of both hands.