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1.
Medicine (Baltimore) ; 100(6): e24699, 2021 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-33578605

RESUMO

RATIONALE: Pulmonary artery intimal sarcoma is a rare tumor with exceptionally high mortality and easily misdiagnosed as pulmonary thromboembolism pulmonary thromboembolism (PTE) due to the nonspecific clinical presentation and symptom. Misdiagnosis or untimely diagnosis makes the disease progress to an advanced stage and eventually leads to a poor prognosis. PATIENT CONCERNS: A 37-year-old Chinese female presented with chest tightness and dyspnea for 3 months. Echocardiography and chest computed tomography revealed an intraluminal obstruction of the pulmonary arteries. Tests of serum tumor makers showed slight elevation for carbohydrate antigen-125, and α-fetoprotein. PTE was suspected according to the radiological and laboratory findings. DIAGNOSIS: Microscopic findings of the presumed thrombus showed prominent myxoid and edematous background with atypical spindled cells and curvilinear vascularity. Immunohistochemical staining demonstrated that the atypical spindled cells were positive for vimentin but negative for CK, S100, SMA, desmin, CD68, STAT6, CD34, ß-catenin, ALK-p80, p53, and MDM2. According to the radiological and pathological findings, the diagnosis of fibrosarcoma of pulmonary artery was made. INTERVENTIONS: The patient underwent surgical resection and the mass was excised as completely as possible. OUTCOME: Follow-up information showed no evidence of recurrence or metastasis after 3 months postresection. LESSONS: Because of the low incidence rate, nonspecific clinical symptoms, and radiological findings, primary fibrosarcoma of the pulmonary artery is commonly misdiagnosed as PTE. Pathological examination is necessary to confirm the diagnosis.


Assuntos
Fibrossarcoma/diagnóstico , Artéria Pulmonar/diagnóstico por imagem , Embolia Pulmonar/diagnóstico , Túnica Íntima/patologia , Adulto , Assistência ao Convalescente , Grupo com Ancestrais do Continente Asiático/etnologia , Antígeno Ca-125/metabolismo , Erros de Diagnóstico/prevenção & controle , Erros de Diagnóstico/estatística & dados numéricos , Ecocardiografia/métodos , Feminino , Fibrossarcoma/sangue , Fibrossarcoma/patologia , Fibrossarcoma/cirurgia , Humanos , Embolia Pulmonar/patologia , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Vimentina/metabolismo , alfa-Fetoproteínas/metabolismo
2.
BMC Surg ; 21(1): 20, 2021 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-33407309

RESUMO

BACKGROUND: Fibrosarcoma is a very rare tumor that arises from fibrous tissue. Less than 5% of fibrosarcoma originate from the urogenital tract. Penile fibrosarcoma, even more rare, is characterized by pain, enlargement, penile erection and urinary tract obstruction. To our knowledge, this is the second reported case named "fibrosarcoma of the corpus cavernosum". CASE PRESENTATION: A 51-year-old male presented with a 1-month history of penis pain during erection. CT scan showed a soft tissue mass arising from the proximal part of the penis. We diagnosed it as penile sarcoma, performing local excision. The postoperative pathological result was moderately differentiated fibrosarcoma. 3 months later, CT scan showed the recurrence of the tumor, and multiple metastases. Although he received chemotherapy, he died 10 months after surgery. CONCLUSIONS: Fibrosarcoma of the corpus cavernosum is rare and have poor prognosis. Total penile amputation may be the best treatment. The effects of chemotherapy are limited. No more effective treatment has been found for a disseminated disease to date.


Assuntos
Fibrossarcoma , Neoplasias Penianas , Fibrossarcoma/diagnóstico , Fibrossarcoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Ereção Peniana , Neoplasias Penianas/diagnóstico , Neoplasias Penianas/cirurgia , Pênis/patologia
3.
Arch. argent. pediatr ; 118(6): e549-e553, dic 2020. ilus
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1146218

RESUMO

El fibrosarcoma infantil es un tumor raro, perteneciente al grupo de sarcomas no rabdomiosarcoma; se presenta, preferentemente, en infantes, con localización más frecuente en extremidades.Se reporta un varón de 5 meses, con historia de sangrado digestivo desde los 3 meses, interpretados, al principio, como alergia a la proteína de leche de vaca, con evolución tórpida y anemia. Por laparoscopía exploradora, se evidenció un tumor en el intestino medio; se realizó resección y anastomosis término-terminal. Luego, se ampliaron los márgenes de resección por ser < 0,1 cm.Microscópicamente, se observó una proliferación neoplásica fusocelular con positividad difusa para vimentina, y reacción en cadena de la polimerasa con transcriptasa reversa positiva para ETV6-NTRK3. Se diagnosticó fibrosarcoma infantil intestinal. Presentó buena evolución a 24 meses del diagnóstico. Si bien es infrecuente en pediatría, se debe considerar como diagnóstico diferencial en lactantes con sangrado digestivo sin causa clara.


Infantile fibrosarcoma is a rare tumor, belonging to the non-rhabdomyosarcoma, soft tissue sarcoma. It is mostly presented in infants, most commonly involving the extremities.We report a 5-month-old boy, presenting with digestive bleeding since the age of 3 months, initially diagnosed as cow's milk allergy, with a torpid evolution and anemia. He underwent laparoscopic exploration, with evidence of a mass in the small bowel. Resection and end-to-end anastomosis were performed. Because of inadequate microscopic margins (< 1 cm), a new surgery was performed to achieve tumor free margins. Histological examination consisted of spindle cells that mainly expressed vimentin, and reverse transcriptase-polymerase chain reaction was positive for the ETV6-NTRK3 transcript, confirming the diagnosis of infantile fibrosarcoma. The patient did well after 24 months of follow-up.Although infantile intestinal fibrosarcoma is extremely uncommon in children, it should be considered as differential diagnosis for digestive bleeding in infants


Assuntos
Humanos , Masculino , Lactente , Fibrossarcoma/diagnóstico , Pediatria , Fibrossarcoma/cirurgia , Hemorragia Gastrointestinal , Neoplasias Intestinais
4.
BMC Med Genet ; 21(1): 190, 2020 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-32993530

RESUMO

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. CASE PRESENTATION: We present a patient with a long-year endocrine follow-up due to multiple endocrine tumors. During his lifespan, he has been surgically treated for pancreatic gastrinoma, parathyroid hyperplasia, atypical pulmonary carcinoid, various benign mesenchymal, and several skin tumors (basocellular tumor, lipomas, and fibromas) which raised a high clinical suspicion of MEN1 syndrome but the patient refused genetic testing. Recently, he developed a novel malignant tumor - recurrent low-grade fibromyxoid sarcoma of the trunk and extremities with multiple subsequent operations. The patient eventually accepted the genetic testing which proved him to be a carrier of a novel mutation in the MEN1 gene. CONCLUSIONS: Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non-endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.


Assuntos
Fibrossarcoma/genética , Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Proteínas Proto-Oncogênicas/genética , Fibrossarcoma/diagnóstico , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Recidiva Local de Neoplasia
5.
BMC Oral Health ; 20(1): 113, 2020 04 16.
Artigo em Inglês | MEDLINE | ID: mdl-32299394

RESUMO

BACKGROUND: Myxofibrosarcoma (MFS) is a soft tissue sarcoma that commonly occurs in late adult life. It is mainly located in the subcutaneous soft tissues of extremities characterized by a high recurrence rate at the original site. MFS of the head and neck is rare, while it occurs in the maxilla and mandible is extremely rare. CASE PRESENTATION: We report a case of MFS of the mandible in a 51-year-old female who presented with a painless gingival swelling and mobile, super-erupted right mandibular second and third molars. Panoramic x-ray and maxillofacial CT revealed an ill-defined radiolucent lesion surrounding the mandibular molars giving a teeth-floating-in-air appearance. Histopathological examination showed scattered spindle and stellate cells with mild atypia distributed in the myxoid stroma. Only a few mitotic figures were identified and no area of tissue necrosis was found. The characteristic thin-walled and curvilinear vasculature were prominent. Immunohistochemistry analysis revealed the tumor cells being positive for vimentin and vascular CD31. CK, S-100, P63, HHF-35 stains were negative. The labeling index of Ki-67 was about 30%. Based on the histopathological and immunohistochemical examinations, the diagnosis of a low-grade MFS was established. This patient underwent a radical segmental excision with a 2-cm margin, supraomohyoid neck dissection and immediate reconstruction of the mandibular continuity defect with a fibular osteocutaneous free flap. This patient has been followed for 20 months to date and has remained disease free. CONCLUSIONS: This report describes a rare case of MFS of the mandible. Recognizing the histopathological features of MFS and applying the appropriate immunohistochemical examinations are crucial in establishing the correct diagnosis. Our case may provide diagnosis and treatment experiences of MFS occurs in the mandible.


Assuntos
Fibrossarcoma/diagnóstico , Mandíbula/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico , Feminino , Fibrossarcoma/cirurgia , Humanos , Imuno-Histoquímica , Mandíbula/patologia , Pessoa de Meia-Idade , Radiografia Panorâmica , Neoplasias de Tecidos Moles/cirurgia
7.
BMC Musculoskelet Disord ; 21(1): 48, 2020 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-31969161

RESUMO

BACKGROUND: Malignant fibrous neoplasms (MFN) of long bones are rare lesions. Moreover, the prognostic determinants of MFN of long bones have not been reported. This study aimed to present epidemiological data and analyse the prognostic factors for survival in patients with MFN. MATERIALS AND METHODS: The Surveillance, Epidemiology, and End Results (SEER) programme database was used to screen patients with malignant fibrous neoplasms (MFN) of long bones from 1973 to 2015, with attention to fibrosarcoma, fibromyxosarcoma, periosteal fibrosarcoma and malignant fibrous histiocytoma. The prognostic values of overall survival (OS) and cancer-specific survival (CSS) were assessed using the Cox proportional hazards regression model with univariate and multivariate analyses. The Kaplan-Meier method was used to obtain OS and CSS curves. RESULTS: A total of 237 cases were selected from the SEER database. Malignant fibrous histiocytoma was the most common form of lesion in long bones. Multivariate analysis revealed that independent predictors of OS included age, stage, tumour size and surgery. Age, stage, tumour size and surgery were also independent predictors of CSS. Additionally, the most significant prognostic factor was whether metastasis had occurred at the time of initial diagnosis. CONCLUSION: Among patients with MFN of long bones, age (> 60 years), tumour size (> 10 cm), distant stage, and non-surgical treatment are factors for poor survival.


Assuntos
Neoplasias Ósseas/epidemiologia , Bases de Dados Factuais/tendências , Fibrossarcoma/epidemiologia , Histiocitoma Fibroso Benigno/epidemiologia , Vigilância da População , Programa de SEER , Adolescente , Adulto , Neoplasias Ósseas/diagnóstico , Feminino , Fibrossarcoma/diagnóstico , Histiocitoma Fibroso Benigno/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Estadiamento de Neoplasias/tendências , Vigilância da População/métodos , Taxa de Sobrevida/tendências , Adulto Jovem
8.
Cancer Immunol Immunother ; 69(2): 189-197, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31853575

RESUMO

Peptide-based immunotherapy does not usually elicit strong immunological and clinical responses in patients with end-stage cancer, including sarcoma. Here we report a myxofibrosarcoma patient who showed a strong clinical response to peptide vaccinations and whose immune responses were reboosted by anti-PD1 therapy combined with peptide vaccinations. The 46-year-old man showed a strong response to the peptide vaccinations (papillomavirus binding factor peptide, survivin-2B peptide, incomplete Freund's adjuvant, and polyethylene glycol-conjugated interferon-alpha 2a) and subsequent wide necrosis and massive infiltration of CD8+ T cells in a recurrent tumor. The patient's immune responses weakened after surgical resection; however, they were reboosted following the administration of nivolumab combined with peptide vaccinations. Thus, anti-PD1 therapy combined with peptide vaccinations might be beneficial, as suggested by the observations in this sarcoma patient.


Assuntos
Vacinas Anticâncer/imunologia , Fibroma/imunologia , Fibroma/terapia , Fibrossarcoma/imunologia , Fibrossarcoma/terapia , Imunização Secundária , Peptídeos/imunologia , Receptor de Morte Celular Programada 1/antagonistas & inibidores , Biomarcadores Tumorais , Vacinas Anticâncer/administração & dosagem , Terapia Combinada , Fibroma/diagnóstico , Fibrossarcoma/diagnóstico , Humanos , Imuno-Histoquímica , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X
9.
Am J Surg Pathol ; 44(3): 368-377, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31592798

RESUMO

Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive soft tissue sarcoma, characterized by a distinctive epithelioid phenotype in a densely sclerotic collagenous stroma, that shows frequent MUC4 immunoreactivity and recurrent gene fusions, often involving EWSR1 gene. A pathogenetic link with low-grade fibromyxoid sarcoma (LGFMS) has been suggested, due to cases with hybrid morphology as well as overlapping genetic signature. However, a small subset of SEF is negative for MUC4 and lacks the canonical EWSR1/FUS gene rearrangements. Triggered by the identification of recurrent YAP1-KMT2A gene fusions by RNA sequencing in 3 index cases of MUC4-negative, EWSR1/FUS fusion-negative SEF, we further investigated a cohort of 14 similar SEF cases (MUC4-negative, EWSR1/FUS fusion-negative) by fluorescence in situ hybridization (FISH), reverse transcription-polymerase chain reaction, and/or DNA-based massively parallel sequencing (MSK-IMPACT) for abnormalities in these genes. Three additional SEFs with KMT2A gene rearrangements and one additional case with YAP1 gene rearrangements were identified by FISH. In addition, one case with YAP1-KMT2A and one with KMT2A-YAP1 fusion were detected by reverse transcription-polymerase chain reaction and MSK-IMPACT, respectively. As a control group, 24 fibromyxoid spindle cell tumors, diagnosed or suspected as fusion-negative LGFMS, were also tested for YAP1 and KMT2A abnormalities by FISH, but none were positive. The YAP1/KMT2A-rearranged SEF group affected patients ranging from 10 to 86 years old (average and median: 45) of both sexes (4 females, 5 males). The tumors involved somatic soft tissues with a wide distribution, including extremities, trunk, neck, and dura. Histologically, the tumors showed variable cellularity, with monotonous ovoid to epithelioid tumor cells and hyalinized collagenous background typical of SEF. More than half of the cases showed infiltrative borders, within fat or skeletal muscle. No LGFMS component was identified. All tumors were negative for MUC4 and had an otherwise nonspecific immunophenotype. Of the 6 cases with available follow-up information, 2 had local recurrences, and 2 developed soft tissue and/or bone metastases, including 1 of them died of the disease.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Biomarcadores Tumorais/genética , Fibrossarcoma/genética , Rearranjo Gênico , Histona-Lisina N-Metiltransferase/genética , Mucina-4/metabolismo , Proteína de Leucina Linfoide-Mieloide/genética , Neoplasias de Tecidos Moles/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Estudos de Casos e Controles , Criança , Feminino , Fibrossarcoma/diagnóstico , Fibrossarcoma/patologia , Seguimentos , Fusão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Adulto Jovem
10.
Genes Chromosomes Cancer ; 59(4): 217-224, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31675134

RESUMO

Sclerosing epithelioid fibrosarcoma (SEF) is a rare sarcoma subtype characterized by monomorphic epithelioid cells embedded in a densely sclerotic collagenous matrix. The overwhelming majority of tumors arise in soft tissues; however, rare cases have been documented to occur primarily in bone. The hallmarks of soft tissue SEF include MUC4 immunoreactivity and the presence of an EWSR1-CREB3L1 fusion. Rare cases with alternative fusions have also been reported such as EWSR1-CREB3L2 and FUS-CREB3L2 transcripts. The molecular alterations of skeletal SEF have not been well-defined, with only rare cases analyzed to date. In this study we investigated the clinicopathologic and molecular features of seven patients presenting with primary osseous SEF. There were 3 males and 4 females, with a mean age at diagnosis of 38 years. All cases had microscopic features within the histologic spectrum of SEF and showed strong and diffuse MUC4 positivity, while lacking SATB2 expression. However, due to its unusual presentation within bone, four cases were initially misinterpreted as either osteosarcoma, Ewing sarcoma or chondroblastoma. Half of the patients with follow-up data developed metastasis. The cases were tested by targeted RNA sequencing, MSK-IMPACT, and/or fluorescence in situ hybridization, showing EWSR1-CREB3L1 in six cases and EWSR1-CREB3L2 in one case. The fusion transcripts were composed of EWSR1 exon 11 to either exon 6 of CREB3L1 or CREB3L2. In summary, due to their rarity in the bone, skeletal SEF are often misdiagnosed, resulting in inadequate treatment modalities. Similar to their soft tissue counterpart, bone SEF follow an aggressive clinical behavior and show similar EWSR1-CREB3L1/CREB3L2 fusions.


Assuntos
Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/etiologia , Fibrossarcoma/diagnóstico , Fibrossarcoma/etiologia , Adolescente , Adulto , Biomarcadores Tumorais , Biópsia , Criança , Diagnóstico por Imagem , Gerenciamento Clínico , Suscetibilidade a Doenças , Feminino , Rearranjo Gênico , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica , Adulto Jovem
11.
BMC Cancer ; 19(1): 1098, 2019 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-31718576

RESUMO

BACKGROUND: Myxofibrosarcoma (MFS) is most often found on the limbs of aged male people, but extremely uncommon in the liver. CASE PRESENTATION: A 52-year-old female patient with a liver mass was diagnosed as a primary MFS. It had no obvious abdominal symptoms, and the tumor was resected with an extended margin. Three years after the surgery, the patient was readmitted for peritoneal metastasis and passed away 4 months later. The tumor has a benign presentation, but malignant outcome. CONCLUSIONS: Comprehensive radiological inspection, intensive preoperative evaluation, careful design of operating procedures, wide margin resection, consecutive treatment, and strict periodical follow-ups should be taken to ensure a better prognosis of this kind of neoplastic disease.


Assuntos
Fibrossarcoma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Biomarcadores , Biópsia , Diagnóstico Diferencial , Feminino , Fibrossarcoma/metabolismo , Humanos , Imuno-Histoquímica , Neoplasias Hepáticas/metabolismo , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Gradação de Tumores , Fenótipo , Prognóstico , Avaliação de Sintomas , Tomografia Computadorizada por Raios X
12.
Pol J Pathol ; 70(2): 148-152, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31556568

RESUMO

Fibrosarcomas are placed among the most infrequent malignant tumors of the uterus. We present a case of a 38 years-old woman, whose benign looking uterine mass was primary diagnosed as a sclerosing leiomyoma. However, the tumor relapsed in two years with multisite metastases in the abdomen. The complex differential diagnosis excluded the most common mesenchymal tumors of the gynecological tract. Finally, we diagnosed the tumor as an epithelioid sclerosing fibrosarcoma arising from the uterine.


Assuntos
Fibrossarcoma/diagnóstico , Leiomioma/diagnóstico , Útero/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos
13.
Acta Orthop Traumatol Turc ; 53(6): 507-511, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31521455

RESUMO

Infantile fibrosarcoma is a very rare soft tissue tumor in infants and children most commonly located in extremities. It constitutes less then 1 percent of all childhood cancers. Prognosis and clinical course of it is relatively good compared to adult forms. Local recurrence is common but metastasis is infrequent. In this case report we present infantile fibrosarcoma with relapse and lung metastasis despite neoadjuvant chemotherapy, pelvic reconstruction surgery with wide surgical excision and adjuvant chemotherapy protocol. The patient was a 2-year-old girl at the time of diagnosis, and there was a huge mass in pelvic region. After neoadjuvant chemotherapy, type 1 pelvic resection and pelvic reconstruction with bone cement performed. The patient presented with relapse and lung metastasis 6 months after the surgery. This is the first report of pelvic infantile fibrosarcoma with pelvic resection surgery. This case suggests that these tumors may exhibit unpredictable clinical behavior.


Assuntos
Fibrossarcoma/diagnóstico , Hemipelvectomia/métodos , Estadiamento de Neoplasias , Neoplasias Pélvicas/diagnóstico , Biópsia , Quimioterapia Adjuvante , Pré-Escolar , Progressão da Doença , Evolução Fatal , Feminino , Fibrossarcoma/terapia , Humanos , Imagem por Ressonância Magnética , Terapia Neoadjuvante , Recidiva Local de Neoplasia , Neoplasias Pélvicas/terapia , Prognóstico , Tomografia Computadorizada por Raios X
14.
Pediatr Dev Pathol ; 22(6): 594-598, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31335288

RESUMO

Sclerosing epithelioid fibrosarcoma (SEF) is an uncommon neoplasm that rarely presents in bone. It is characterized by epithelioid cells arranged in nests and single-file cords within a sclerotic stromal background which may mimic neoplastic bone. SEF harbors an EWSR1 translocation, which may complicate its distinction from Ewing sarcoma in cases with histomorphologic overlap. We present a diagnostically challenging case of SEF in the mandible of a 16-year-old girl. Our experience highlights the lack of specificity of traditional morphology and EWSR1 break-apart fluorescent in situ hybridization. Open-ended RNA-based fusion gene testing coupled with MUC4 immunohistochemistry aided the eventual diagnosis in this case. Herein, we report the third case of SEF with EWSR1-CREB3L3 translocation and show that this fusion leads to aberrant upregulation of the phosphoinositide 3-kinase/mammalian target of rapamycin signaling pathway in heterologous cell models.


Assuntos
Biomarcadores Tumorais/genética , Fibrossarcoma/genética , Neoplasias Mandibulares/genética , Proteínas de Fusão Oncogênica/genética , Fosfatidilinositol 3-Quinase/metabolismo , Serina-Treonina Quinases TOR/metabolismo , Translocação Genética , Adolescente , Feminino , Fibrossarcoma/diagnóstico , Fibrossarcoma/metabolismo , Fibrossarcoma/patologia , Humanos , Neoplasias Mandibulares/diagnóstico , Neoplasias Mandibulares/metabolismo , Neoplasias Mandibulares/patologia , Transdução de Sinais , Regulação para Cima
15.
Artigo em Inglês | MEDLINE | ID: mdl-31212345

RESUMO

Fibrosarcomas are malignant tumors of the connective tissue, which are characterized by proliferation of fibroblasts. Most of these tumors are localized subcutaneously and cause different symptoms depending on their location. The case report describes a dermal tumor on the outside of the pinna in a 7-year-old female Cashmere goat. The tumor was surgically removed and histopathological examination revealed a low grade fibrosarcoma. Although tumors are rare in ruminants because of the animals' short lifespan (age of slaughtering in most cases < 24 months) in modern production processes, they should be considered as a differential diagnosis.


Assuntos
Fibrossarcoma , Neoplasias Cutâneas , Animais , Orelha/patologia , Orelha/cirurgia , Feminino , Fibrossarcoma/diagnóstico , Fibrossarcoma/patologia , Fibrossarcoma/cirurgia , Fibrossarcoma/veterinária , Cabras , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/veterinária
16.
Pathologe ; 40(4): 353-365, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-31168638

RESUMO

Soft tissue neoplasms with myxoid features are collectively not uncommon. Their often complex differential diagnosis makes them significantly over-represented among consultation cases. This applies not only to sarcomas but in particular to benign lesions as well. Generally, myxoid soft tissue lesions are divided into two major groups: (1) myxoid lesions by definition (which can however rarely be non-myxoid) and (2) rare myxoid variants of otherwise non-myxoid entities.Four major diagnostic challenges are responsible for the complexity of myxoid soft tissue neoplasms: (1) Diagnosis of malignancy in many cases is not based on conventional malignancy criteria but is defined by the entity itself, making under-diagnosis of malignancy likely in entities such as low-grade fibromyxoid sarcoma. (2) On the other hand, harmless myxoid lesions with features of high proliferation, e.g. nodular and proliferative fasciitis, tend to be over-diagnosed as malignant by the unworried. (3) The necessity to assess not only cellular morphology/differentiation, but also the stromal, vascular and architectural characteristics adds to the complexity of the differential diagnostic algorithm. (4) Last but not least, recognition of unexpected myxoid variants of non-myxoid entities is basically impossible if focal conventional areas are absent, underlining the need for high suspicion index and sufficient sampling.This review illuminates the various aspects related to the differential diagnostic workup of these challenging entities.


Assuntos
Fibrossarcoma , Sarcoma , Neoplasias de Tecidos Moles , Algoritmos , Diagnóstico Diferencial , Fibrossarcoma/diagnóstico , Humanos , Sarcoma/diagnóstico , Sarcoma/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia
17.
Eur J Surg Oncol ; 45(7): 1293-1298, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31085026

RESUMO

BACKGROUND: Despite the overall diagnostic utility of core needle biopsy (CNB) comparable to incisional biopsy, increased diagnostic errors have been suggested of CNB for myxoid soft tissue tumors. This study compared the diagnostic performance of CNB between myxoid and non-myxoid soft tissue tumors. METHODS: 369 patients who underwent ultrasound-guided CNB prior to resection for soft tissue tumors were classified into two groups according to resection pathology; myxoid group (n = 75) and non-myxoid group (n = 294). One-hundred and ninety-three patients were male and the median age of the patients was 40 years. Two-hundred and sixty-three tumors were malignant. RESULTS: CNB correctly diagnosed malignancy in 84% (58 of 69) for the myxoid group and 95% (184 of 194) for the non-myxoid group. For diagnosing histologic grade of soft tissue sarcoma, CNB correctly identified high grade in 78% (18 of 23) for the myxoid group and 74% (94 of 128) for the non-myxoid group. Correct diagnosis rate of histological type was significantly lower in the myxoid group (63% [47 of 75] in the myxoid group and 83% [242 of 294] in the non-myxoid group, p = 0.013). CONCLUSION: Our study suggests that CNB is useful for myxoid soft tissue tumors of the extremity, with regard to diagnosing malignancy and histologic grade. However, CNB was less useful for identifying histologic subtype in myxoid tumors than in non-myxoid tumors.


Assuntos
Biópsia com Agulha de Grande Calibre/métodos , Erros de Diagnóstico , Lipossarcoma Mixoide/patologia , Mixossarcoma/patologia , Neurilemoma/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Idoso , Condrossarcoma/diagnóstico , Condrossarcoma/patologia , Condrossarcoma/cirurgia , Feminino , Fibroma/diagnóstico , Fibroma/patologia , Fibroma/cirurgia , Fibrossarcoma/diagnóstico , Fibrossarcoma/patologia , Fibrossarcoma/cirurgia , Humanos , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/patologia , Leiomiossarcoma/cirurgia , Lipossarcoma Mixoide/diagnóstico , Lipossarcoma Mixoide/cirurgia , Masculino , Pessoa de Meia-Idade , Mixoma/diagnóstico , Mixoma/patologia , Mixoma/cirurgia , Mixossarcoma/diagnóstico , Mixossarcoma/cirurgia , Gradação de Tumores , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/diagnóstico , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/cirurgia , Neurilemoma/diagnóstico , Neurilemoma/cirurgia , Neurofibrossarcoma/diagnóstico , Neurofibrossarcoma/patologia , Neurofibrossarcoma/cirurgia , Sarcoma/diagnóstico , Sarcoma/patologia , Sarcoma/cirurgia , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/patologia , Sarcoma de Ewing/cirurgia , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/patologia , Sarcoma Sinovial/cirurgia , Sensibilidade e Especificidade , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/cirurgia , Carga Tumoral
18.
Indian J Ophthalmol ; 67(4): 568-570, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30900604

RESUMO

An 18-year-old female presented with rapidly progressive proptosis of the left eye for one month and grade II relative afferent pupillary defect. Orbital imaging showed a well-defined homogenous extraconal mass in close relation to the lateral rectus muscle and extending up to the superior orbital fissure, associated with bony erosion. An incisional biopsy was performed, with the histopathology demonstrating stellate to spindle-shaped tumor cells (fibroblasts) embedded in a richly myxoid matrix. A diagnosis of low-grade fibromyxoid sarcoma (LGFS) was made. The patient was treated by stereotactic external beam radiotherapy. Here, we report a case of LGFS which, to the best of our knowledge, is the first at an orbital location.


Assuntos
Fibrossarcoma/diagnóstico , Neoplasias Orbitárias/diagnóstico , Adolescente , Biópsia , Diagnóstico Diferencial , Exoftalmia/diagnóstico , Exoftalmia/etiologia , Feminino , Fibrossarcoma/complicações , Fibrossarcoma/radioterapia , Humanos , Órbita/diagnóstico por imagem , Neoplasias Orbitárias/complicações , Neoplasias Orbitárias/radioterapia , Tomografia Computadorizada por Raios X
19.
Mod Pathol ; 32(7): 1008-1022, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30877273

RESUMO

Mesenchymal neoplasms of the uterus (corpus and cervix) encompass a heterogeneous group of tumors with differing morphologies, immunophenotypes and molecular alterations. With the advent of modern molecular techniques, such as next generation sequencing, newly defined genetic abnormalities are being reported in this group of neoplasms. Herein we report the clinicopathological and molecular features of a series of 13 spindle cell sarcomas of the uterus and vagina (10 cervix, 2 uterine corpus, 1 vagina) with morphology resembling fibrosarcoma. After targeted RNA-sequencing, dual FISH fusion and array-CGH analysis, 7 of 13 tumors exhibited NTRK rearrangements (6 TPM3-NTRK1 and 1 EML4-NTRK3) and 3 a COL1A1-PDGFB fusion; in the other 3 neoplasms, all of which were positive with S100 (2 diffuse, 1 focal), we identified no rearrangement. All the NTRK fusion-positive sarcomas were located in the cervix and exhibited diffuse staining with Trk while all the other neoplasms were negative. CD34 was diffusely positive in all 3 of the COL1A1-PDGFB fusion sarcomas. The latter molecular abnormality is identical to that commonly found in dermatofibrosarcoma protuberans and has not been reported previously in uterine mesenchymal neoplasms. We suggest that uterine sarcomas with a morphology resembling fibrosarcoma (and in which leiomyosarcoma and the known molecularly confirmed high-grade endometrial stromal sarcomas have been excluded) can be divided into 3 groups:- an NTRK fusion group, a COL1A1-PDGFB fusion group and a group containing neither of these molecular abnormalities which, on the basis of positive staining with S100, could be tentatively classified as malignant peripheral nerve sheath tumor, although additional molecular studies may identify specific genetic alterations necessitating a nomenclature change. We suggest a diagnostic algorithm when reporting such neoplasms. Identification of these newly described fusion-associated sarcomas is important given the potential for targeted treatments.


Assuntos
Colágeno Tipo I/genética , Fibrossarcoma/diagnóstico , Proteínas Proto-Oncogênicas c-sis/genética , Neoplasias Uterinas/diagnóstico , Neoplasias Vaginais/diagnóstico , Adulto , Idoso de 80 Anos ou mais , Feminino , Fibrossarcoma/genética , Fibrossarcoma/patologia , Rearranjo Gênico , Humanos , Pessoa de Meia-Idade , Fusão Oncogênica , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Neoplasias Vaginais/genética , Neoplasias Vaginais/patologia , Adulto Jovem
20.
Cir. plást. ibero-latinoam ; 45(1): 67-72, ene.-mar. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-182680

RESUMO

Introducción y Objetivo: La patología tumoral primaria de pared torácica es una entidad poco frecuente en niños. El tratamiento quirúrgico comúnmente involucra la resección de la pared torácica, pudiendo dejar grandes defectos que requieren reconstrucción compleja. Estos pueden incluir la reconstrucción de tejidos blandos y esqueléticos con materiales aloplásticos y colgajos regionales. Presentamos nuestra experiencia en reconstrucción torácica secundaria a tumores primarios de pared torácica en población pediátrica. Material y Método: Describimos 2 casos clínicos de pacientes pediátricos con tumores de pared torácica manejados multidisciplinariamente con resección amplia, cobertura con malla y colgajo miocutáneo de latissimus dorsi. Resultados: El colgajo de latissimus dorsi fue una buena alternativa en estos 2 casos para la cobertura de la reconstrucción esquelética en niños. Conclusiones: El abordaje multidisciplinario de estas patologías es fundamental dada la necesidad de realizar grandes ablaciones torácicas


Background and Objective: Primary tumor of the thoracic wall is a rare entity in children. Surgical treatment commonly involves resection of the chest wall, potentially leaving large defects that can require complex reconstruction. These may include skeletal and soft tissue reconstruction with alloplastic materials and regional flaps. We report our experience in thoracic wall reconstruction after extensive resection due to primary wall tumors resection in children. Methods: We present 2 cases of pediatric patients with thoracic wall tumor who were managed multidisciplinary with wide resection and reconstructed with mesh coverage and latissimus dorsi myocutaneous flap. Results: The latissimus dorsi flap was a good alternative for coverage of skeletal reconstruction in the presented cases. Conclusions: Multidisciplinary management of these pathologies is fundamental given the need to perform large thoracic ablations


Assuntos
Humanos , Masculino , Recém-Nascido , Parede Torácica/cirurgia , Retalhos Cirúrgicos/cirurgia , Neoplasias Primárias Múltiplas/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Neoplasias Primárias Múltiplas/secundário , Fibrossarcoma/diagnóstico , Biópsia , Sarcoma de Ewing/diagnóstico por imagem , Sarcoma de Ewing/cirurgia
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