Massive Desmoplastic Fibroma of the Proximal Tibia: Case Report / Fibroma desmoplásico na tíbia proximal: Relato de caso

Abstract Desmoplastic fibroma of bone is a very uncommon, benign but locally aggressive fibrogenic tumor. This report describes the case of a 45-year-old patient with a massive desmoplastic fibroma of the proximal tibia. A two-staged surgical procedure was successfully performed: wide resection and endoprosthetic reconstruction. Surgeons should be aware of the complexity of its treatment in the locally advanced and aggressive cases. A comprehensive review of the literature is also provided.

Resumo O fibroma desmoplásico do osso é um tumor fibrogênico muito incomum, benigno, mas localmente agressivo. Este relato descreve o caso de uma paciente de 45 anos com um enorme fibroma desmoplásico na tíbia proximal. Foi realizado com sucesso um procedimento cirúrgico em dois tempos: ressecção ampla e reconstrução endoprotética. Os cirurgiões devem estar cientes da complexidade de seu tratamento nos casos localmente avançados e agressivos. Uma revisão abrangente da literatura também é fornecida.

Tumor desmoplásico de células redondas / Desmoplastic round cell tumor

Resumen El tumor desmoplásico de células pequeñas y redon das es una neoplasia poco frecuente y muy agresiva que forma parte de la familia de los "tumores de célu las pequeñas, redondas y azules". Presenta una mayor incidencia en el sexo masculino en la segunda década de la vida. Se debe a la translocación t(11;22) (p13;q12). Se puede localizar tanto en el abdomen como en el re troperitoneo caracterizándose por presentar síntomas inespecíficos. El tratamiento es muy variado y no se ha detectado todavía aquel que garantice la cura total del paciente. El objetivo del presente estudio es exponer un caso clínico de tumor desmoplásico como enfermedad abdo minal infrecuente y su expresión imagenológica.

Abstract Desmoplastic small round cell tumor is a rare and very aggressive neoplasm that belongs to the family of "small round blue cell tumors". It has a higher incidence in males in the second decade of life. It is due to trans location t(11;22) (p13;q12). It can be located both in the abdomen and in the retroperitoneum and is character ized by nonspecific symptoms. The treatment is very varied and the one that guarantees the total cure of the patient has not yet been detected. The objective of this study is to expose a clinical case of desmoplastic tumor as an rare abdominal disease and its imaging expression.

MRI features of desmoplastic small round cell tumor of the abdomen and pelvis / 中华消化外科杂志

Objective:To investigate the magnetic resonance imaging (MRI) features of desmoplastic small round cell tumor (DSRCT) of the abdomen and pelvis.Method:The retrospec-tive and descriptive study was conducted. The clinicopathological data of 8 patients with DSRCT of the abdomen and pelvis, including 3 cases admitted in Yueqing People's Hospital and 5 cases admitted in Wenzhou People's Hospital, from January 2008 to June 2022 were collected. There were 5 males and 3 females, aged (43±5)years. All patients underwent MRI plain and enhanced scanning. Observa-tion indicators: (1) imaging features of DSRCT of the abdomen and pelvis; (2) treatment and pathological examination characteristics of DSRCT of the abdomen and pelvis; (3) follow-up. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distri-bution were represented as M(range). Count data were described as absolute numbers. Results:(1) Imaging features of DSRCT of the abdomen and pelvis. ① Tumor location. Of the 8 patients, there were 6 cases with tumors located respectively at the lower edge of the liver in the right quarter costal region, the medial side of the ileocecal region in the right iliac region, the medial side of the caecum in the right iliac region, the gastro-pancreatic space in the left quarter costal region, the mesenteric space in the left iliac region and the right side of pelvic bladder, and 2 cases with tumors located at retroperitoneal space of left quarter rib region. ② Tumor size. There were 13 lesions in the 8 patients, and the maximum diameter of tumor was 9.1 (range, 3.5?20.0)cm. Of the 8 patients, there were 5 cases with single tumor and 3 cases with multiple tumors. ③ Tumor shape and boundary. Of the 8 patients, there were 4 cases with tumor in expansive growth and 4 cases with tumor in invasive growth. There were 5 cases with tumor of intratumoral necrosis and cystic degene-ration, 4 cases with tumor of intratumoral hemorrhage, 4 cases with tumor of intratumoral spot calcification, 3 cases with tumor of peritumoral tissue exudation. One patient may combined with multiple imaging manifestations. ④ Imaging characteristics of MRI plain scanning. Of the 8 patients, there were 4 cases with tumor of homogeneous hypointensity signal and 4 cases with tumor of hypointensity mixed with speckled hyperintensity (with hemorrhage) in T1 weighted imaging of MRI plain scanning. There were 3 cases with tumor of homogeneous hyperintensity and 5 cases with tumor of high signal at the edge, patchy and spot-shaped in the center in T2 weighted imaging of MRI plain scanning. There were 5 cases with tumor of high, equal and low confounding signals and 3 cases with tumor of high and low signals in T2 weighted imaging fat suppression sequence of MRI plain scanning. There were 3 cases with tumor of uniform high signals and 5 cases with tumor of high, equal and low mixed signals in diffusion weighted imaging of MRI plain scanning. ⑤ Imaging characteristics of MRI enhanced scanning. All 8 patients had tumor of heterogeneous enhancement in MRI enhanced scanning, including 2 cases with significant enhancement in arterial phase, continuous enhancement in portal phase, slightly reduced enhancement in delayed phase, 4 cases with moderate enhancement in arterial phase, continuous enhancement in portal phase, slowly exited enhancement in delayed phase, 2 cases with mild enhancement in arterial phase, continuous enhancement in portal phase, slowly exited enhancement in delayed phase. Of the 8 patients, there were 3 cases with tumor of annular enhancement with intratumoral strip or grid signals and 3 cases with tumor of peritumoral blood vessels increased and thickened signals. ⑥ Tumor invasion and metastasis. Of the 8 patients, there were 4 cases with tumor invaded bowel, 2 cases with tumor invaded surrounding tissues, 1 case with tumor invaded left kidney, spleen and pancreatic tail, 1 case with tumor invaded distal of left ureter. There were 5 cases with abdominal, retroperitoneal and inguinal lymph nodes enlargement, 4 cases with multiple nodular thickening of peritoneum and ascites, 2 cases with tumor liver and lung metastasis and 1 case with tumor rib, femur and sacrum metastasis. One patient may combined with multiple tumor metastasis. (2) Treatment and patholo-gical examination characteristics of DSRCT of the abdomen and pelvis. Of the 8 patients, 3 patients underwent complete resection as clear tumor boundary, 3 patients underwent tumor partial resection as tight adhesion between tumor and surrounding blood vessels, 2 cases underwent tumor tissue pathological examination as extensive metastasis of peritoneum, omentum, mesentery and surrounding intestine. All 8 patients were diagnosed as DSRCT by microscopic examination, electron microscopic examination, immunohistochemical staining and cytogenetic examination. (3) Follow-up. All 8 patients underwent postoperative follow-up and died during the follow-up.Conclusion:MRI features of abdominal and pelvic DSRCT include single or multiple lobulated masses with unclear boundaries, invading the omentum, mesentery, peritoneum and adjacent tissues in most cases, mixed signals and heterogeneous mild to moderate enhancement in enhanced scanning.

Omental desmoplastic small round cell tumor with metastasis

Desmoplastic small round cell tumor (DSRCT) is a very rare diagnosis with about 200 cases reported in literature. DSRCT is a recently described histopathological entity by Gerald and Rosai in 1989. Abdominopelvic cavity especially peritoneum is the most common site. We report a case of a huge omental DSRCT with lymph node metastasis which was initially misdiagnosed as gastrointestinal stromal tumor on radiology. A 26-year-old male presented with complaints of upper abdominal swelling associated with constant dull pain. On examination there was a large 15 × 12 cm intraabdominal mass in the epigastric and umbilical region. Imaging studies were suggestive of neoplastic mesenchymal etiology. Image-guided fine-needle aspiration cytology (FNAC) was suggestive of mesenchymal neoplastic etiology. On laparotomy, there was a huge 20 × 15 cm mass arising from omentum with multiple omental and mesenteric seedlings and mesenteric, peripancreatic and perigastric lymphadenopathy. The patient underwent debulking surgery with uneventful post-operative recovery. Histopathological examination with immunohistochemistry revealed a diagnosis of DSRCT of omentum and small bowel mesentery with lymph node metastasis. Patient then received adjuvant chemotherapy with multiple chemotherapeutic drugs as per P6 protocol and has stable disease at 1 year follow up.

Tratamiento Conservador del Fibroma Desmoplásico Maxilar en Paciente Pediátrico. Seguimiento a Dos Años: reporte de Caso y Revisión de la Literatura / Conservative Treatment of Maxillary Desmoplasic Fbroma in Pediatric Patient. A Two-Year follow-up: case Report and Review of the Literature

RESUMEN: El fibroma desmoplasico (FD) es una neoplasia intraósea benigna, localmente agresiva, de muy baja frecuencia - especialmente en niños pequeños - y es considerada la contraparte ósea de la fibromatosis tipo desmoide. Se han descrito tratamientos que van desde la enucleación y legrado hasta la resección del segmento óseo afectado, debido a su alta tasa de recidiva. Sin embargo, se ha establecido un consenso para evitar dichas recidivas, que consiste en realizar una resección segmentaria con márgenes de seguridad. En este reporte de caso se decidió realizar un tratamiento conservador debido a la edad de la paciente, siendo el caso más joven reportado en la literatura con un FD maxilar y, de esta manera, evitar mutilaciones y necesidad de reconstrucción ósea a tan corta edad, considerando también su estado de crecimiento, generación de potenciales asimetrías o desarrollo facial anormal que podría generar secuelas estéticas y funcionales, alterando su calidad de vida.

ABSTRACT: Desmoplastic fibroma (DF) is a benign, locally aggressive, intraosseous neoplasm of very low frequency - especially in young children - and is considered the bony counterpart of desmoid-type fibromatosis. Treatments ranging from enucleation and curettage to resection of the affected bone segment have been described, due to its high recurrence rate. However, a consensus has been established to avoid such recurrences, which consists in performing a segmental resection with safety margins. In this case report, it was decided to carry out a conservative treatment due to the age of the patient, being the youngest case reported in the literature with a maxillary DF and, in this way, avoiding mutilations and the need for bone reconstruction at such a young age. Also considering their growth status, generation of potential asymmetries or abnormal facial development that could generate aesthetic and functional sequelae, altering their quality of life.

Clinical analysis of 8 cases of desmoplastic fibroma of the jaw / 口腔疾病防治

Objective @#To improve the dentist's understanding of desmoplastic fibroma of the jaw, we investigated the clinical manifestations, pathological features, treatment and prognosis of this disease.@*Methods@#The clinical data of 8 patients with desmoplastic fibroma of the jaw who were admitted to Nanjing Stomatological Hospital from 2011 to 2021 were retrospectively reviewed.@* Results @#The male-female ratio in this group was 3:1, the age of first onset was 32.13±15.00, and the lesions were mainly in the mandible. Histologically, the lesions was composed of mildly atypical fibroblasts and a large number of collagen fibers. The positive rates of Vimentin, α-SMA and β-catenin in the cytoplasm were 100%, 62.5% and 62.5%, respectively. The Ki-67 level in the initial patients was lower than 5%, and the S-100 protein level was 100% negative. The imaging manifestations were single-room or multichamber light-transmitting lesions with clear or irregular boundaries, with or without peripheral sclerosis. Five patients were treated with curettage for the first time; among them, two patients relapsed with poor prognosis. Three patients underwent extended resection, and all had no recurrence.@*Conclusions @# The clinical and imaging features of desmoplastic fibroma of the jaw are not specific. We mainly rely on histopathology to diagnose the disease. It has a high recurrence rate after surgery. At present, the best treatment is to extend surgical resection. Local curettage is easy to relapse and has a poor prognosis.

Desmoid Fibromatosis A Rare Case Report

Desmoidfibromatosisis a rare tumor affectingbone.This tumorhistologically and biologically mimics the extra-abdominal desmoid tumor of soft tissue. This is locally infiltrative and aggressive in nature. The reported incidence ofsuch cases is around 2–4 per million population whichaccountsfor 0.03% of all neoplasms. In maxillofacial region, incidence is less than 3% of all cases. Treatment of such tumors is surgical excision and chances of recurrence are more. Weherebyreport a case of a 23-year-old female patient withdesmoid fibromatosis in the mandibular posterior region.

Eight children with desmoplastic small round cell tumor and literature review / 中华实用儿科临床杂志

Objective:To analyze the clinical characteristics, therapeutic modalities and prognosis of desmoplastic small round cell tumor (DSRCT) in children, and to summarize the international research progress.Methods:A total of 8 children with DSRCT admitted to Shanghai Children′s Medical Center, Shanghai Jiaotong University, School of Medicine, from January 1999 to August 2019 were retrospectively studied.The clinical characteristics, consultation process and follow-up results were summarized, and the Kaplan-Meier survival analysis method was used to calculate the survival rate.Results:Among these 8 cases, there were 6 male children and 2 female children.Seven cases originated in the abdomen and pelvis, and 1 case originated in the sacral region.All cases had infiltrate surrounding tissues or viscera, and 4 cases(50%) had extra-peritoneal metastasis, including distant lymph node metastasis, liver, lung and bone metastasis.All patients received chemotherapy, among which 3 patients received radiotherapy, and 2 patients received autologous hematopoietic stem cell transplantation.The medical follow-up was continued to February 15, 2020, with the median follow-up period being 59 months.Three cases died and 5 cases survived (2 cases in complete remission, 1 case in recurrent relapse, 2 cases in partial remission still under treatment). The median relapse time was 14.5 months, the 3-year relapse-free survival rate was (30.0±17.5)%, and 3-year overall survival was (51.4±20.4)%.Conclusions:Half of DSRCT had distant metastasis; the prognosis was poor despite the aggressive multimodality therapeutic approaches, such as chemotherapy, cytoreductive surgery, and whole abdominopelvic radiotherapy and stem cell transplantation.

Therapeutic targets of desmoplastic small round cell tumor and future direction / 中国肿瘤临床

Desmoplastic small round cell tumor (DSRCT) is a rare and highly malignant soft tissue sarcoma. Most patients are diagnosed at advanced stage unless DSRCT happens to be discovered accidentally. DSRCT mainly occurs in the abdomen and pelvis, spreading along the peritoneal surface. At the time of diagnosis, most patients have passed the operable stage. The diagnosis of DSRCT is based on the histological analysis of a biopsy. It typically manifests as small round blue cells in the nest, separated by a large number of fibroproliferative stroma. A stable cytogenetic feature of DSRCT is that the characteristic t(11; 22) (P13; Q12) chromosome produces the EWSWT1 fusion gene. The prognosis of patients with DSRCT is very poor, and the 5-year survival rate is about 15%. Despite the use of active treatment methods, such as chemotherapy, surgery, and total abdominal radiotherapy, about 60% 70% of patients with DSRCT die within 2- 3 years. Targeted therapy, immunotherapy, and other methods have been trialed recently in the treatment of DSRCT due to the development of DSRCT molecular genetics.

Spectrum of Mri Findings in Pediatric Epilepsy–Medical and Surgical Causes of Epilepsy in Children And its’ Radiological Correlation

@#Introduction: Epilepsy is the common condition encountered in both adults and pediatric population. It occurs as a result of various spectrum of etiology ranging from infections to tumors. EEG and Neurosonogram can characterize the type of epilepsy; however, imaging is the only tool to identify the lesion, its location, and extent and resection possibility. CT was the only modality before the era of MRI. However, CT was only used to identify the lesion with hemorrhage and calcification. It is having the disadvantage of having poor spatial resolution and using radiation. The era of MRI has changed the imaging due to its higher spatial resolution, gray white matter differentiation, status of myelination and non-utilization of radiation. Purpose: The aim of study was to detect and characterize various lesions causing epilepsy in pediatric age group (0-12 years) and also to detect frequency with which they occurred using MRI. Methods: The study was performed on 50 children under the age of 12 years over a period of 1 year who presented with epilepsy. Patients with trauma and febrile seizure disorders were excluded. Conventional and contrast MRI was performed in all cases and lesions were characterized in location, signal intensity, and other features. Results: The mean age group of the study population was 1-5 years. Generalized seizures constituted the major seizure group. Our study shows infection as the most common etiology followed by mesial temporal sclerosis and Focal cortical dysplasia. It was followed by neoplastic etiology, phacomatosis and demyelinating diseases. Conclusion: MRI is the imaging modality of choice in the evaluation of pediatric patients presenting with epilepsy. Proper MRI seizure protocol helps to establish the correct diagnosis, plan the management according to diagnosis as well as helps in prognosis.

Tumor Desmoplásico Intraabdominal de células redondas y pequeñas. Abordaje médico quirúrgico y fisioterapéutico. A propósito de un caso / On the subject of a case: Intra-abdominal desmoplastic small and round cell tumor: a medical-surgical and physiotherapeutic approach

El Tumor Desmoplásico Intraabdominal de células pequeñas y redondas es un tumor agresivo, poco frecuente, el pronóstico es pobre y presenta una supervivencia total de 15% a los 5 años. Se presenta el caso clínico de un paciente con diagnóstico de Tumor Desmoplásico, sometido a cirugía citoreductora y quimioterapia intraperitoneal hipertérmica internado durante 46 días en el Hospital de Clínicas de la Facultad de Ciencias Médicas, donde recibió un tratamiento multidisciplinario. El tratamiento kinésico inició posterior a la cirugía y continuó de manera ambulatoria logrando finalmente la marcha independiente, completándose un total de 20 sesiones. La evolución clínica kinésica quirúrgica demostró la importancia del trabajo interdisciplinario desde el primer contacto con el paciente. A pesar del desenlace desfavorable del paciente, en el tiempo de recuperación post quirúrgico se pudo acceder a las terapéuticas logrando importantes resultados respecto a la independencia física. El reporte presentado corresponde al tercer caso de esta patología, sometido a cirugía en el Hospital de Clínicas de la Facultad de Ciencias Médicas, el aporte de este informe nos permite valorar el manejo integral de un paciente oncológico.

The desmoplastic small round cell tumor is a rare aggressive tumor, the prognosis is poor and it has a total survival of 15% at 5 years. We presented the clinical case of a patient with a diagnosis of desmoplastic tumor, who underwent cytoreductive surgery and hyperthermic intraperitoneal chemotherapy, hospitalized for 46 days, where he received multidisciplinary treatment.Physical Therapy treatment began after surgery and continued on an outpatient basis, finally achieving independent walking, completing a total of 20 sessions. The clinical evolution demonstrated the importance of interdisciplinary work from the first contact with the patient. Despite the unfavorable outcome of the patient, in the post-surgical recovery time, therapeutics could be accessed, achieving important results regarding physical independence. The report presented corresponds to the third case of this pathology, submitted to surgery at the Hospital de Clínicas of the Faculty of Medical Sciences, the contribution of this report allows us to assess the comprehensive management of an oncological patient.

Chemotherapy combined with apatinib for the treatment of desmoplastic small round cell tumors: A case report

Desmoplastic small round cell tumor (DSRCT) is a type of soft-tissue sarcoma with poor prognosis. Current treatments include multidisciplinary treatment options such as surgery, chemotherapy, and radiotherapy. Apatinib is an oral, small-molecule, anti-tumor, angiogenesis-targeted drug, which acts mainly on the intracellular binding site of vascular endothelial growth factor receptor-2. In this study, we administered apatinib in combination with chemotherapy to achieve good disease control. This is a 31-year-old male who presented with upper abdominal pain, nausea, and anorexia for over a month. Imaging revealed multiple solid masses and ascites in the liver and abdominal cavity. He was diagnosed as having cholangiocarcinoma with metastasis to the liver, both lungs, bone, and multiple lymph nodes in the neck, abdominal and pelvic cavity, retroperitoneum, and palpitate angle, based on a percutaneous biopsy of the liver and an abdominal mass, and other examinations. Computed tomography revealed disease progression after two cycles of gemcitabine combined with nedaplatin chemotherapy. Next-generation sequencing detection based on the Illumina high-throughput sequencing platform suggested EWSR1 exon7- Wilms tumor 1 exon8 fusion. The pathology was verified and diagnosed as DSRCT. The chemotherapy regimen was changed to cyclophosphamide, epirubicin, vincristine, and oral apatinib for two cycles. The lesions were mostly reduced, and partial response was evaluated. This case is the first report of the efficacy of apatinib combined with systemic chemotherapy in the treatment of DSRCT, which can become an alternative treatment for this disease

Tumor desmoplásico de célula pequeña y redonda paratesticular/testicular: reporte de caso y revisión de la literatura / Paratesticular/testicular desmoplastic round small cell malignant tumor: case report and literature review

Resumen El tumor desmoplásico de célula redonda y pequeña (TDCRP) es una patología neoplásica maligna agresiva y poco común. Afecta predominantemente a hombres entre la segunda y tercera década de la vida. Los pacientes que la padecen tienen un pronóstico pobre, con una supervivencia global a 5 años de hasta el 30%. Por lo general se presenta como una masa en la cavidad abdominal, frecuentemente multifocal. Para su tratamiento se recomienda un enfoque multimodal con cirugía, quimioterapia y radioterapia. Poco más de 20 casos de TDCRP a nivel testicular/paratesticular se han reportado en la literatura. A continuación, se presenta un caso ilustrativo en esta localización, se discute el caso y se realiza revisión de la literatura.

Abstract Desmoplastic small round cell tumor (DSRCT) is an aggressive and rare malignant neoplasm. It mainly affects young men in their twenties and thirties. Patients with it have a poor prognosis, with a 5-year survival rate of up to 30%. It generally presents as a mass in the abdominal cavity, often multifocal. A multimodal approach is recommended for its treatment, with surgery, chemotherapy, and radiotherapy. Just over 20 cases of testicular/paratesticular DSRCT have been reported in the literature. Below, we present an illustrative case in this location, we discuss the case and review the literature.

Melanoma desmoplásico mixto / Mixed desmoplastic melanoma

El melanoma desmoplásico es una variedad infrecuente de melanoma que se distingue por su presentación clínico-patológica y su comportamiento biológico. El diagnóstico temprano es un desafío por su presentación clínica variable, con predominio del componente dérmico y la frecuente ausencia de pigmento. En la histología se lo divide en puro y mixto y esta clasificación tiene importantes implicancias pronósticas. El espesor de Breslow promedio al momento del diagnóstico es mayor que en otras variantes de melanoma, sin embargo, la tendencia a generar metástasis ganglionares es menor.

Desmoplastic melanoma is a rare presentation of melanoma with a different clinical behavior compared to other histological variants. Its diagnosis in early stages is a challenge due to its variable clinical presentation, with a predominant dermal component and the frequent absence of pigment. Its histology is divided into pure and mixed type, and this classification has important prognostic implications. The average Breslow thickness at diagnosis is higher than in other melanoma variants. However, the tendency to lymph node metastasis is low.

Desmoplastic small round cell tumor of the ovary: A case report with a new modality of treatment and review of the literature

Abstract Objective Desmoplastic small round cell tumor (DSRCT) is a rare intraabdominal neoplasm that grows along serosal surfaces and is primarily found in young men. To Keywords date, only 16 cases of ovarian DSRCT have been previously reported in women in the English literature, and no large population-based studies on this topic exist. Case Report We report the case of a 19-year-old virgo with unremarkable past medical history, initially presented with abdominal fullness. After being treated with the optimal treatment modality (primary and secondary surgical debulking, unique chemotherapy, protocol and adjuvant radiotherapy), the patient has remained without tumor disease for 40 months. Conclusion Although the best therapy for patients with DSRCT has yet to be determined, combining complete surgical resection, adjuvant chemotherapy, and radiotherapy is required to prolong survival and to achieve proper quality of life.

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.

Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Natural products remodel cancer-associated fibroblasts in desmoplastic tumors

Desmoplastic tumors have an abundance of stromal cells and the extracellular matrix which usually result in therapeutic resistance. Current treatment prescriptions for desmoplastic tumors are usually not sufficient to eliminate the malignancy. Recently, through modulating cancer-associated fibroblasts (CAFs) which are the most abundant cell type among all stromal cells, natural products have improved chemotherapies and the delivery of nanomedicines to the tumor cells, showing promising ability to improve treatment effects on desmoplastic tumors. In this review, we discussed the latest advances in inhibiting desmoplastic tumors by modeling CAFs using natural products, highlighting the potential therapeutic abilities of natural products in targeting CAFs for cancer treatment.

Tumor desmoplásico de células pequeñas y redondas. Presentación de caso y revisión de la literatura / Desmoplastic Small Round Cell Tumor. A Case Report and Literature Review

El tumor desmoplásico de células pequeñas y redondas (TDCPR) es una neoplasia maligna rara, con curso clínico agresivo y mortalidad elevada. Se presenta el caso de un hombre de 21 años de edad, quien consultó por dolor abdominal de intensidad moderada, irradiado al flanco derecho, fiebre y pérdida de peso. En tomografía abdominal con medio de contraste se documentó una gran masa intraperitoneal con áreas de necrosis central y extensión a la pelvis, además de lesiones hepáticas de aspecto neoplásico secundario. El diagnóstico se confirmó mediante biopsia percutánea guiada por ultrasonido, que mostró extensa infiltración por tumor maligno, constituido por células con núcleos vesiculosos de cromatina clara, citoplasma eosinófilo e inmunohistoquímica compatible con dicho tumor. En este artículo se hace una confrontación del caso con los hallazgos descritos en otras series publicadas en la literatura y una revisión clínica del tema.

Desmoplastic small round cell tumor (DSRCT) is a rare malignant neoplasm with an aggressive clinical course and high mortality. The case of a 21-year-old man is presented, who consulted for abdominal pain of moderate intensity radiating to the right flank, fever and weight loss. Contrast abdominal tomography was performed, documenting a large intraperitoneal mass with areas of central necrosis and extension to the pelvis, in addition to secondary neoplastic liver lesions. The diagnosis was confirmed by ultrasound-guided percutaneous biopsy, which reported extensive infiltration by malignant tumor, consisting of cells with vesicular nuclei of clear chromatin, eosinophilic cytoplasm and immunohistochemistry compatible with said tumor. This case report is compared with the findings described in other series published in the literature and a clinical review of the subject is made.

Desmoplastic fibroma of the mandible: a rare gnathic bone tumor with a review of the literature

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 ß-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.