RESUMO
NTRK gene fusions are part of a paradigm shift in oncology, arising as one of the main genomic alterations with actionability in the so-called "agnostic setting." In gynecologic pathology, the recent description of uterine sarcoma resembling fibrosarcoma and with NTRK rearrangements ( NTRK -rearranged uterine sarcoma) highlights the importance of recognizing clinicopathological cues that can lead to genomic profiling. Herein, we report the case of a 43-year-old woman presenting with vaginal bleeding and pelvic mass. Histopathology of the tumor showed moderately atypical spindle cells arranged in long fascicles reminiscent of fibrosarcoma, along with immunohistochemical positivity for S100, CD34, and pan-tropomyosin receptor kinase. This prompted RNA-sequencing and the finding of a rare EML4::NTRK3 fusion. Clinical, histologic, and molecular findings are described, in addition to discussions regarding differential diagnoses and possible implications of the findings in clinical practice.
Assuntos
Fibrossarcoma , Neoplasias de Tecido Conjuntivo e de Tecidos Moles , Neoplasias Pélvicas , Sarcoma , Neoplasias de Tecidos Moles , Neoplasias Uterinas , Humanos , Feminino , Adulto , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Fibrossarcoma/diagnóstico , Neoplasias de Tecidos Moles/patologia , Fusão Gênica , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Proteínas de Fusão Oncogênica/genética , Rearranjo GênicoRESUMO
O envelhecimento populacional é um fenômeno mundial, sendo percebido também no estado do Amazonas. Com a alta expectativa de vida, o enfoque na saúde geral e bucal impactam diretamente a qualidade de vida da pessoa. Desta forma, os levantamentos acerca da população geriátrica não devem ser restritos às alterações fisiológicas da idade, devendo abordar também as manifestações patológicas, retratando assim quais são as lesões bucais mais recorrentes. O trabalho em questão visa levantar o número de lesões bucais prevalentes em tecido mole e duro em idosos. Sendo feito a partir de um levantamento das lesões bucais prevalentes em tecido mole e duro que acometeram os idosos registrados nos laudos do Serviço de Patologia Oral e Maxilofacial da Universidade do Estado do Amazonas, SEPAT-UEA, entre os anos de 2012 a 2018. Segundo os dados coletados, a categoria de neoplasias de tecido mole (28,94%) teve o maior número de casos, em que a lesão mais prevalente, sendo esta do mesmo grupo, foi a hiperplasia fibrosa inflamatória (14,04%). Teve maior acometimento em mulheres (54,91%), pessoas com 60-69 anos (74,77%), usuários de próteses removíveis (15,56%) e a mandíbula (17,28%) foi a localização mais comum. Com as informações adquiridas, a partir de um serviço de referência do estado do Amazonas, é possível ter um melhor direcionamento dos recursos para a população geriátrica tendo um maior enfoque para as lesões mais prevalentes visando assim uma melhor saúde bucal e consequentemente uma melhor qualidade de vida(AU)
Population aging is a worldwide phenomenon, and is also noticed in the state of Amazonas. According to the high life expectancy, the focus on general health and the oral impact directly on the person's quality of life. Thus, surveys about thegeriatric population should not be restricted as physiological changes in age, but should also be addressed as pathological manifestations, thus portraying which are the most recurrent oral lesions. The aim of the study is to raise the frequency of the most prevalent of oral lesions in soft and hard tissue in the elderly. Being made from a survey of oral lesions in soft and hard tissue that affected the elderly registered in the reports of the Oral and Maxillofacial Pathology Service of the Amazonas State University, SEPAT-UEA, between the years 2012 to 2018. According to collected data, the category of soft tissue neoplasms (28.94%) had the highest number of cases, in which the most prevalent lesion, being the same group, for an inflammatory fibrous hyperplasia (14.04%). It was more recurrent in women (54.91%), elderly in 60-69 years (74.77%), users of removable prosthesis (15.56%) and the mandible (17.28%) was the most common location. With the information acquired, from a reference service in the state of Amazonas, it is possible to have a better targeting of resources for the geriatric population, with agreater focus on the most prevalent injuries, thus better oral health and consequently a better quality of life care(AU)
El envejecimiento de la población es un fenómeno mundial, se percibe también en el estado de Amazonas. Con la alta expectativa de vida, el enfoque en la salud general y bucal impactan directamente la calidad de vida de la persona. De esta forma, las encuestas sobre la población geriátrica no deben restringir a los cambios fisiológicos de la edad, sino que deben abordar también las manifestaciones patológicas, describiendo así cuáles son las lesiones bucales más recurrentes. El trabajo en cuestión tiene por objeto levantar el número de lesiones bucales prevalentes en tejido blando y duro en ancianos. Se realiza a partir de um estudio de las lesiones bucales prevalentes que han afectado a los ancianos registrados en los informes del Servicio de Patología Oral y Maxilofacial de la Universidad del Estado de Amazonas, SEPAT-UEA, entre los años 2012 a 2018. Según los datos recogidos, la categoría de neoplasias de tejidos blandos (28,94%) presentó el mayor número de casos, en la que la lesión más prevalente fue la hiperplasia fibrosa inflamatoria (14,04%). Fue más afectado por mujeres (54,91%), personas de 60 a 69 años (74,77%), usuarios de prótesis removibles (15,56%) y la mandíbula (17,28%) fue la localización más común. Con la información adquirida, de un servicio de referencia en el estado de Amazonas, es posible tener una mejor focalización de recursos para la población geriátrica, con un mayor enfoque en las lesiones más prevalentes, apuntando así a una mejor salud bucal y consecuentemente una mejor calidad de vida(AU)
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Boca/lesões , Doenças da Boca/epidemiologia , Manifestações Bucais , Qualidade de Vida , Saúde Bucal , Lesões dos Tecidos Moles , Neoplasias de Tecido Conjuntivo e de Tecidos Moles , Odontologia Geriátrica , Hiperplasia GengivalRESUMO
Five cases of an unusual primary benign stromal tumor designated as hemangioblastoma-like clear cell stromal tumor of the lung are presented. The patients are 4 women and 1 man between the ages of 39 and 52 years of age (average: 45.5 y). The patients presented with nonspecific symptoms of cough, chest pain, or dyspnea. None of the patients had any prior history of malignancy or tumor elsewhere. Diagnostic imaging showed the presence of an intrapulmonary tumor. Lobectomy was performed in all 5 patients. Grossly, the tumors were well-demarcated but not encapsulated with focal areas of hemorrhage without necrosis. Histologically, low power examination showed a cellular proliferation alternating with discrete dilated vessels reminiscent of a vascular neoplasm. Higher magnification showed medium-sized cells with clear cytoplasm arranged in sheets and cords. Mitotic activity and marked cellular atypia were not present. A wide panel of immunohistochemical studies was performed including epithelial, neural, muscle, vascular, and neuroendocrine markers, all of which showed negative staining. Tumor cells showed positive staining for vimentin. In 2 cases, fluorescence in situ hybridization for the solitary fibrous tumor was performed and was negative. Clinical follow-up in 3 patients showed no evidence of recurrence. The cases herein presented highlight an unusual benign stromal tumor of the lung, which needs to be considered in the differential diagnosis of tumors with a clear cell and vascular appearance.
Assuntos
Hemangioblastoma/patologia , Neoplasias Pulmonares/patologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Adulto , Biomarcadores Tumorais/análise , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-IdadeRESUMO
Feline Injection Site-Associated Sarcoma (FISS) is a neoplasm that implies in reduction of quality of life and overall survival in feline patients. A retrospective study of 13 cases of FISS was conducted to evaluate the efficacy of surgical treatment associated to chemotherapy with doxorubicin or carboplatin. Local recurrence occurred in all patients. Patients treated with surgery and chemotherapy presented a longer overall survival and disease-free interval when compared to those that solely received surgical treatment, although no statistical significance was observed (p= 0.3360 and 0.7506, respectively). Surgery remains as the main option for FISS treatment. Further prospective studies with larger samples are warranted to investigate the benefit of chemotherapy for this neoplasm.(AU)
O Sarcoma de Aplicação Felino (SAF) é uma neoplasia associada a redução na qualidade de vida e sobrevida global. O objetivo deste estudo foi avaliar a eficácia da quimioterapia associada à cirurgia no manejo do SAF. Estudo retrospectivo de 13 pacientes com SAF submetidos à cirurgia isolada ou associada a quimioterapia com carboplatina ou doxorrubicina. Recorrência local ocorreu em todos os pacientes. Pacientes tratados com cirurgia e quimioterapia apresentaram maior sobrevida global e intervalo livre de doença quando comparados àqueles que receberam apenas tratamento cirúrgico, mas não foi observada diferença estatística (p=0,3360 e 0,7506, respectivamente). A cirurgia continua sendo a principal opção para o tratamento do SAF. Estudos prospectivos são necessários para investigação do real benefício da quimioterapia para esta neoplasia.(AU)
Assuntos
Animais , Gatos , Carboplatina/uso terapêutico , Quimioterapia Adjuvante/veterinária , Doxorrubicina/uso terapêutico , Sarcoma/cirurgia , Sarcoma/terapia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/veterináriaRESUMO
Feline Injection Site-Associated Sarcoma (FISS) is a neoplasm that implies in reduction of quality of life and overall survival in feline patients. A retrospective study of 13 cases of FISS was conducted to evaluate the efficacy of surgical treatment associated to chemotherapy with doxorubicin or carboplatin. Local recurrence occurred in all patients. Patients treated with surgery and chemotherapy presented a longer overall survival and disease-free interval when compared to those that solely received surgical treatment, although no statistical significance was observed (p= 0.3360 and 0.7506, respectively). Surgery remains as the main option for FISS treatment. Further prospective studies with larger samples are warranted to investigate the benefit of chemotherapy for this neoplasm.(AU)
O Sarcoma de Aplicação Felino (SAF) é uma neoplasia associada a redução na qualidade de vida e sobrevida global. O objetivo deste estudo foi avaliar a eficácia da quimioterapia associada à cirurgia no manejo do SAF. Estudo retrospectivo de 13 pacientes com SAF submetidos à cirurgia isolada ou associada a quimioterapia com carboplatina ou doxorrubicina. Recorrência local ocorreu em todos os pacientes. Pacientes tratados com cirurgia e quimioterapia apresentaram maior sobrevida global e intervalo livre de doença quando comparados àqueles que receberam apenas tratamento cirúrgico, mas não foi observada diferença estatística (p=0,3360 e 0,7506, respectivamente). A cirurgia continua sendo a principal opção para o tratamento do SAF. Estudos prospectivos são necessários para investigação do real benefício da quimioterapia para esta neoplasia.(AU)
Assuntos
Animais , Gatos , Carboplatina/uso terapêutico , Quimioterapia Adjuvante/veterinária , Doxorrubicina/uso terapêutico , Sarcoma/cirurgia , Sarcoma/terapia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/veterináriaAssuntos
Anormalidades Linfáticas/diagnóstico por imagem , Linfocele/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/diagnóstico por imagem , Teratoma/diagnóstico por imagem , Malformações Vasculares/diagnóstico por imagem , Diagnóstico Diferencial , HumanosRESUMO
Phosphaturic mesenchymal tumor (PMT) is a morphologically heterogeneous soft tissue and bone neoplasm, producing a paraneoplastic syndrome due to phosphate wasting. These tumors produce fibroblast growth factor 23, which is implicated in renal tubule phosphate loss. Medical records of patients seen from 1999 to 2013 with osteomalacia associated or not with a tumor were reviewed. Clinical and laboratory data, radiographic studies, and follow-up of 8 patients were tabulated. Histologic features and the immunoprofile of the tumors were analyzed. There were 208 patients with osteomalacia, but only 8 (3.84%) had osteomalacia associated with a tumor. The median age of the patients was 40 years. The tumor size ranged from 1.5 to 4 cm. Five were located in soft tissues and skin; and 3, in bones. Osteomalacia symptoms lasted from 2 to 14 years with a median of 6 years. Laboratory data showed hypophosphatemia and phosphaturia in all patients. All tumors were histologically benign. Histologically, the salient features were a hemangiopericytoid pattern, chronic hemorrhage, and microcystic areas. All neoplasms were diffusely positive for vimentin and focally positive for epithelial membrane antigen, CD34, and S-100 protein. Ki-67 was positive in approximately 10% of neoplastic cells in 2 cases and less than 1% in the remainder. We report 8 cases of PMTs producing osteomalacia, from a single third-level Mexican medical institution. These tumors occurred in soft tissues, skin, and bones. All tumors were benign, small, not easily detected by physical examination and diagnosed due to the metabolic abnormalities.
Assuntos
Hipofosfatemia/patologia , Mesenquimoma/patologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Osteomalacia/patologia , Adulto , Feminino , Humanos , Hipofosfatemia/etiologia , Masculino , Mesenquimoma/complicações , México , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/complicações , Osteomalacia/etiologia , Estudos RetrospectivosRESUMO
FUNDAMENTO: Tumores cardíacos são extremamente raros; no entanto, quando há suspeita clínica, é necessária a correta avaliação diagnóstica, para planejar o tratamento mais adequado. Nesse contexto, a ressonância magnética cardiovascular tem um papel importante, permitindo uma abrangente caracterização de tais lesões. OBJETIVO: Revisar os casos encaminhados a um Serviço de Ressonância Magnética para investigação de massas cardíacas e paracardíacas. Descrever a série de casos positivos, juntamente de uma breve revisão da literatura para cada tipo de lesão e sobre o papel da ressonância magnética cardiovascular em sua avaliação. MÉTODOS: Entre agosto de 2008 e dezembro de 2011, foram revistos todos os casos de pacientes encaminhados a ressonância magnética com suspeita de neoplasia envolvendo o coração. Foram selecionados aqueles com confirmação histopatológica, evolução ou resposta terapêutica compatíveis com a suspeita clínica e achados de imagem. RESULTADOS: Entre os 13 pacientes incluídos neste estudo, oito (62%) tiveram confirmação histopatológica. Foram descritas cinco neoplasias benignas (mixomas, rabdomioma e fibromas), cinco neoplasias malignas (sarcoma, linfoma, síndrome de Richter cardíaca e doença metastática) e três lesões não neoplásicas (cisto pericárdico, trombo intracardíaco e vegetação infecciosa). CONCLUSÃO: A informação disponível sobre essa questão é escassa. Estudos prospectivos adicionais são necessários para elucidar o papel desses nutrientes no risco cardiovascular de pacientes com diabetes.
BACKGROUND: Cardiac tumors are extremely rare; however, when there is clinical suspicion, proper diagnostic evaluation is necessary to plan the most appropriate treatment. In this context, cardiovascular magnetic resonance imaging (CMRI) plays an important role, allowing a comprehensive characterization of such lesions. OBJECTIVE: To review cases referred to a CMRI Department for investigation of cardiac and paracardiac masses. To describe the positive case series with a brief review of the literature for each type of lesion and the role of cardiovascular magnetic resonance imaging in evaluation. METHODS: Between August 2008 and December 2011, all cases referred for CMRI with suspicion of tumor involving the heart were reviewed. Cases with positive histopathological diagnosis, clinical evolution or therapeutic response compatible with the clinical suspicion and imaging findings were selected. RESULTS: Among the 13 cases included in our study, eight (62%) had histopathological confirmation. We describe five benign tumors (myxomas, rhabdomyoma and fibromas), five malignancies (sarcoma, lymphoma, Richter syndrome involving the heart and metastatic disease) and three non-neoplastic lesions (pericardial cyst, intracardiac thrombus and infectious vegetation). CONCLUSIONS: CMRI plays an important role in the evaluation of cardiac masses of non-neoplastic and neoplastic origin, contributing to a more accurate diagnosis in a noninvasive manner and assisting in treatment planning, allowing safe clinical follow-up with good reproducibility.
Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasias Cardíacas/diagnóstico , Linfoma/diagnóstico , Imageamento por Ressonância Magnética , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/diagnóstico , Diagnóstico Diferencial , Neoplasias Cardíacas/patologia , Linfoma/patologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Cardiac tumors are extremely rare; however, when there is clinical suspicion, proper diagnostic evaluation is necessary to plan the most appropriate treatment. In this context, cardiovascular magnetic resonance imaging (CMRI) plays an important role, allowing a comprehensive characterization of such lesions. OBJECTIVE: To review cases referred to a CMRI Department for investigation of cardiac and paracardiac masses. To describe the positive case series with a brief review of the literature for each type of lesion and the role of cardiovascular magnetic resonance imaging in evaluation. METHODS: Between August 2008 and December 2011, all cases referred for CMRI with suspicion of tumor involving the heart were reviewed. Cases with positive histopathological diagnosis, clinical evolution or therapeutic response compatible with the clinical suspicion and imaging findings were selected. RESULTS: Among the 13 cases included in our study, eight (62%) had histopathological confirmation. We describe five benign tumors (myxomas, rhabdomyoma and fibromas), five malignancies (sarcoma, lymphoma, Richter syndrome involving the heart and metastatic disease) and three non-neoplastic lesions (pericardial cyst, intracardiac thrombus and infectious vegetation). CONCLUSIONS: CMRI plays an important role in the evaluation of cardiac masses of non-neoplastic and neoplastic origin, contributing to a more accurate diagnosis in a noninvasive manner and assisting in treatment planning, allowing safe clinical follow-up with good reproducibility.