RESUMO
Resumen Objetivos: Presentar caso clínico y revisión de la literatura sobre asociación de tumores poco frecuentes compatibles con diagnóstico de tríada de Carney. Paciente y Métodos: Revisión de ficha clínica de paciente de sexo femenino de 39 años de edad con antecedentes de asma, quien acude a servicio de urgencias por síntomas respiratorios. En estudio con imágenes se evidencia masa pulmonar en lóbulo superior derecho probablemente hamartoma y masa en la bifurcación carotídea izquierda compatible con posible paraganglioma. Se completó el estudio con endoscopia digestiva alta sin evidencia de tumor gástrico y PET-CT (tomografía de emisión de positrones-tomografía computarizada) que descartó otras lesiones. Resultados: La paciente fue sometida a resección quirúrgica de ambos tumores (pulmonar y carotídeo). En estudio histopatológico diferido, se plantean los diagnósticos de paraganglioma carotideo y hamartoma pulmonar, el cual, luego de una segunda revisión histopatológica, es corregido a condroma pulmonar. Discusión: La tríada de Carney se compone por la asociación de al menos 2 de 3 tumores: tumor estromal gastrointestinal (GIST), paraganglioma extra-adrenal y condroma pulmonar. Su expresión es variable, coexistiendo en forma completa en solo el 22% de los casos. Conclusión: Los pacientes con sospecha de tríada de Carney deben recibir evaluación multidisciplinaria, estudio completo en búsqueda de tumores asociados y seguimiento a largo plazo por posibles recurrencias o metástasis.
Objective: To present a clinical case and review of the literature on the infrequent association of pulmonary and extra thoracic tumors compatible with Carney's triad. Patient and Methods: Review of clinical records of a 39 years-old female patient with history of asthma who presented in the emergency department with respiratory symptoms. An imaging study showed a pulmonary mass in the right upper lobe with the aspect of hamartoma and a mass in the left carotid artery bifurcation compatible with a possible paraganglioma. Upper gastrointestinal endoscopy showed no evidence of gastric tumor and a PET-CT (Positron Emission Tomography - Computed Tomography) excluded other lesions. Results: Patient underwent surgical resection of both tumors (pulmonary and carotid). Diagnosis of carotid paraganglioma and pulmonary hamartoma were stated by histopathology. However, lung tumor after a second pathological analysis was confirmed to be a pulmonary chondroma. Discussion: Carney's triad is defined by the association of at least 2 of 3 tumors: Gastrointestinal Stromal Tumor (GIST), extraadrenal paraganglioma and pulmonary chondroma. Its expression is variable, coexisting completely in only 22% of cases. Conclusion: Patients with suspected Carney's triad should receive a multidisciplinary assessment, a complete study searching associated tumors and long-term follow-up for recurrences or metastases.
Assuntos
Humanos , Feminino , Adulto , Paraganglioma/diagnóstico por imagem , Artérias Carótidas/diagnóstico por imagem , Condroma/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Primárias Múltiplas , Paraganglioma/cirurgia , Radiografia Torácica , Artérias Carótidas/cirurgia , Condroma/cirurgia , Tumores do Estroma Gastrointestinal/cirurgia , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Neoplasias Gastrointestinais/cirurgia , Neoplasias Gastrointestinais/diagnóstico por imagem , Neoplasias Pulmonares/cirurgiaRESUMO
OBJECTIVES: The aim of this study was to evaluate the role of amphiregulin protein, an epidermal growth factor receptor ligand, in cartilaginous tumors. METHODS: Amphiregulin expression was examined in 31 enchondromas and 67 chondrosarcomas using immunohistochemistry analysis. RESULTS: Overall, 15 enchondromas (48.40%) and 24 chondrosarcomas (35.82%) were positive for amphiregulin. According to the receiver operating characteristic curve test, no difference in amphiregulin expression was observed between enchondromas and low-grade chondrosarcomas (p=0.0880). Additionally, 39 lesions (16 in short bones, 13 in long bones, and 10 in flat bones) were positive for amphiregulin, exhibiting a higher percentage of positive cells (p=0.0030) and intensity of immunohistochemical expression (p=0.0055) in short bone lesions than in others. Among 25 enchondromas localized in short bones, 15 expressed amphiregulin; however, all 6 cases localized in long bones were negative for this marker (p=0.0177). CONCLUSIONS: Amphiregulin did not help in distinguishing enchondromas from low-grade chondrosarcomas. The present study is the first to document the expression of this immunohistochemical marker in enchondromas. Furthermore, amphiregulin expression in enchondromas was localized in short bones, indicating a phenotypic distinction from that in long bones. This distinction may contribute to an improved understanding of the pathogenesis of these lesions.
Assuntos
Anfirregulina/genética , Neoplasias Ósseas , Condroma , Condrossarcoma , Humanos , Imuno-HistoquímicaRESUMO
OBJECTIVES: The aim of this study was to evaluate the role of amphiregulin protein, an epidermal growth factor receptor ligand, in cartilaginous tumors. METHODS: Amphiregulin expression was examined in 31 enchondromas and 67 chondrosarcomas using immunohistochemistry analysis. RESULTS: Overall, 15 enchondromas (48.40%) and 24 chondrosarcomas (35.82%) were positive for amphiregulin. According to the receiver operating characteristic curve test, no difference in amphiregulin expression was observed between enchondromas and low-grade chondrosarcomas (p=0.0880). Additionally, 39 lesions (16 in short bones, 13 in long bones, and 10 in flat bones) were positive for amphiregulin, exhibiting a higher percentage of positive cells (p=0.0030) and intensity of immunohistochemical expression (p=0.0055) in short bone lesions than in others. Among 25 enchondromas localized in short bones, 15 expressed amphiregulin; however, all 6 cases localized in long bones were negative for this marker (p=0.0177). CONCLUSIONS: Amphiregulin did not help in distinguishing enchondromas from low-grade chondrosarcomas. The present study is the first to document the expression of this immunohistochemical marker in enchondromas. Furthermore, amphiregulin expression in enchondromas was localized in short bones, indicating a phenotypic distinction from that in long bones. This distinction may contribute to an improved understanding of the pathogenesis of these lesions.
Assuntos
Humanos , Neoplasias Ósseas , Condroma , Condrossarcoma , Anfirregulina/genética , Imuno-HistoquímicaRESUMO
El condrosarcoma ocupa el tercer puesto dentro de las neoplasias óseas primarias, siendo la columna vertebral una localización inusual. Según su etiología se clasifican en condrosarcoma primario o secundario a lesiones subyacentes de tipo cartilaginosa como el encondroma u osteocondroma; siendo entre el 80-90% de bajo grado. Pueden presentarse en cualquier nivel de la columna vertebral, siendo más frecuente en la región torácica y cervical, comprometiendo los elementos posteriores de la vértebra, los cuerpos vertebrales o ambos, en un 40%, 15% y 45% respectivamente. El síntoma más común es el dolor localizado asociado a manifestaciones neurológicas. El método diagnóstico de elección es la biopsia por punción y el tratamiento se basa fundamentalmente en la resección quirúrgica
Chondrosarcoma occupies the third position within the primary bony neoplasia's, with an unusual location at the level of the spine. According to their etiology, they are classified as primary chondrosarcoma or secondary to underlying cartilaginous lesions such as the enchondroma or osteochondroma, being between 80-90% of low grade. They can occur at any level of the spine, being more frequent in the thoracic and cervical region, compromising the posterior elements of the vertebra, the vertebral body or both, by 40%, 15% and 45% respectively. The most common symptom is localized pain associated with neurological manifestations. The diagnostic method of choice is biopsy and treatment is based primarily on surgical resection.
Assuntos
Humanos , Condrossarcoma , Coluna Vertebral , Neoplasias Ósseas , Osteocondroma , CondromaRESUMO
Cartilage-forming lesions include tumours that can vary in severity from benign enchondromas to high-grade malignant chondrosarcomas. Chondrosarcoma is the second most frequent malignant bone tumour, accounting for 20-30% of all malignant bone neoplasms. Surgery is the standard treatment for cartilage tumours (CTs); however, their incidental diagnosis and the difficult differentiation of low-grade lesions like chondrosarcoma grade I from benign entities like enchondroma are challenges for clinical management. In this sense, the search for circulating biomarkers for early detection and prognosis is an ongoing interest. Targeted metabolomics is a powerful tool that can propose potential biomarkers in biological fluids as well as help to discover disturbed metabolic pathways to reveal tumour pathogenesis. In this context, the aim of this study was to investigate the 1 H nuclear magnetic resonance metabolomic serum profile of patients with CTs contrasted with healthy controls. Forty-one metabolites were identified and quantified; the multivariate statistical methods principal component analysis and partial least squares discriminant analysis reveal a clear separation of the CT group, that is, the differential metabolites that were involved in two main metabolic pathways: the taurine and hypotaurine metabolism and synthesis and degradation of ketone bodies. Our results represent preliminary work for emergent serum-based diagnostics or prognostic methods for patients with chondrogenic tumours.
Assuntos
Biomarcadores Tumorais/sangue , Cartilagem/metabolismo , Condrossarcoma/diagnóstico , Espectroscopia de Ressonância Magnética/métodos , Soro/química , Adulto , Idoso , Condroma/metabolismo , Análise Discriminante , Feminino , Humanos , Masculino , Redes e Vias Metabólicas , Metabolômica/métodos , Pessoa de Meia-Idade , Simulação de Dinâmica Molecular , Análise Multivariada , Estadiamento de Neoplasias/métodos , Projetos Piloto , Soro/metabolismoRESUMO
INTRODUCTION: Studies focusing on enchondroma and atypical cartilaginous tumour (ACT) of the pelvis are lacking. The purpose of this study was to verify possible clinical and radiological findings with regard to distinguishing enchondromas from ACT of the pelvis. In addition, this study analysed functional and oncological outcomes in patients with enchondromas or ACT of the pelvis treated with curettage or resection. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 21 patients with confirmed enchondroma or ACT of the pelvis treated by curettage or resection from 1985 to 2018. The minimum follow-up was 18 months. The relationship between clinical and radiological factors and tumour type or local recurrence was assessed using Fisher exact test and Mann-Whitney U test. RESULTS: Endosteal scalloping (p = 0.039), tumour size (0.005) and age (0.006) were shown to statistically favour ACT over enchondroma; by contrast, enchondroma and ACT patients had no difference in pain frequency (p = 0.5528). All patients with enchondroma had no local recurrence; in contrast, local recurrence occurred in one patient with ACT, initially treated with resection. The patient with local recurrence had a disease progression with a higher histological grade than the original tumour. Patients treated with curettage had better functional outcomes than patients treated with resection (p = 0.001). DISCUSSION: Endosteal scalloping, tumour size and age could be helpful in the differential diagnosis between enchondroma and ACT of the pelvis. In addition, our study showed that ACT of the pelvis can be safely treated with curettage due to a low risk of local recurrence and better functional results compared with resection. In case of recurrence, we suggest to treat these patients with resection for the risk of disease progression.
Assuntos
Doenças das Cartilagens/diagnóstico por imagem , Doenças das Cartilagens/patologia , Condroma/diagnóstico por imagem , Condroma/cirurgia , Curetagem/métodos , Ossos Pélvicos/patologia , Adulto , Biópsia por Agulha , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/patologia , Neoplasias Ósseas/cirurgia , Doenças das Cartilagens/cirurgia , Condroma/patologia , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Osteotomia/métodos , Ossos Pélvicos/diagnóstico por imagem , Ossos Pélvicos/cirurgia , Estudos Retrospectivos , Estatísticas não Paramétricas , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Adulto JovemRESUMO
Abstract Objective Enchondromas are the commonest tumors of the bones of the hand. Treatment approaches vary. The present article presents the characteristics of the tumors, diagnostic methods, and treatments. Methods We discuss the approach used in our institution, where we have treated 48 patients with enchondromas of the hand between 1996 and 2016. Our technique of treatment, which has remained the same over 2 decades, comprises the use of curettage, high-speed burr, and autologous bone graft (harvested with a minimally invasive technique, using a Craig biopsy needle). Results Pain and fractures were the most common symptoms leading the patients to consultation, at frequencies of 33.3% and 31.3%, respectively. A total of 27.1% of the cases were asymptomatic, and their lesions were discovered incidentally. The mean age was 34.4 years (SD = 12.9 years). Tumors were more frequently presented in the ulnar side of the hand, in the fifth ray (41.5%) and in the proximal bones (in the proximal phalanges [43.8%], and in the metacarpal [33.3%]). The size of the tumors ranged from 0.2 cm2 to 5.7 cm2, with a mean of 1.7 cm2 (standard deviation [SD] = 1.0 cm2) and were not associated with fracture (p = 0.291). Fracture was also not associated with any of the symptoms, neither with the age of the patients (p = 0.964). After the treatment, most patients achieved full range of motion (91.7%), with good integration of the bone graft. Three patients presented deficit in range of motion (6.3%) and the incidence of complications was also 6.3% (3 patients). At the end, after the needed surgical revisions, these three patients also recovered full function. They achieved full bone graft integration, regained full range of motion and returned to work. There was no tumor recurrence case during the follow-up period evaluated. For all cases, no donor site complications occurred. Conclusion Our method of treatment has consistently provided good outcomes, with only a few minor complications. Therapeutic level of evidence: IV.
Resumo Objetivo Os encondromas são os tumores mais comuns dos ossos da mão, com uma grande variedade de abordagens terapêuticas. O presente artigo apresenta as características dos tumores, métodos diagnósticos e tratamentos. Métodos Discutimos a abordagem da nossa instituição, onde tratamos 48 pacientes com encondromas da mão, entre 1996 e 2016. Nossa técnica de tratamento, que permanece a mesma ao longo de duas décadas, compreende o uso de curetagem, esmeril de velocidade e enxerto ósseo autólogo (retirado com uma técnica minimamente invasiva, usando uma agulha de Craig). Resultados A dor e as fraturas foram os sintomas mais comuns, levando os pacientes à consulta, nas frequências de 33,3% e 31,3%, respectivamente. Um total de 27,1% dos casos era assintomático, e suas lesões foram descobertas incidentalmente. A média de idade foi de 34,4 anos (desvio padrão [DP] = 12,9 anos). Os tumores foram mais frequentemente encontrados no lado ulnar da mão, no quinto raio (41,5%), e nos ossos proximais (nas falanges proximais [43,8%] e no metacarpo [33,3%]). O tamanho do tumor variou de 0,2 cm2 a 5,7 cm2, com média de 1,7 cm2 (DP = 1,0 cm2) e não foi associado à fratura (p = 0,291). A fratura também não foi associada a nenhum dos sintomas, e nem à idade dos pacientes (p = 0,964). Após o tratamento, a maioria dos pacientes alcançou amplitude completa de movimento (91,7%), com boa integração do enxerto ósseo. Três pacientes apresentaram déficit no arco de movimento (6,3%) e a incidência de complicações também foi de 6,3% (3 pacientes). No final, após as revisões cirúrgicas necessárias, esses três pacientes também recuperaram a função completa. Eles tiveram a integração total do enxerto ósseo, recuperaram toda a amplitude de movimento e retornaram ao trabalho. Não houve nenhum caso de recorrência do tumor durante o período de acompanhamento avaliado. Em nenhum dos casos ocorreram complicações no local doador. Conclusão O nosso método de tratamento forneceu consistentemente bons resultados, com apenas algumas complicações menores. Nível terapêutico de evidência: IV.
Assuntos
Humanos , Masculino , Feminino , Adulto , Dor , Biópsia , Osso e Ossos , Condroma , Transplante Ósseo , Curetagem , Ossos da Mão , Fraturas Ósseas , Mãos , NeoplasiasRESUMO
INTRODUCCIÓN: Los tumores óseos primarios son raros. La localización, extensión y el carácter lítico dificultan el tratamiento aunque el comportamiento biológico sea benigno. OBJETIVO: Valorar las características y tratamientos de los tumores óseos benignos primarios líticos activos o agresivos tratados en el Hospital El Cruce. Comparar la resección realizada con la sugerida por los criterios de Enneking. MATERIAL Y MÉTODOS: se evaluaron historias clínicas y ateneos postquirúrgicos de pacientes con diagnóstico de tumores músculoesqueléticos atendidos en el Servicio de Ortopedia y Traumatología del Hospital El Cruce desde agosto de 2008 hasta junio de 2017. Se utilizaron los criterios de Ennekingde comportamiento biológico y resección. RESULTADOS: Se evaluaron 26 pacientes con diagnóstico de tumor benigno lítico activo o agresivo sobre un total de 124 tumores musculoesqueléticos primarios operados. Un paciente se reclasificó como maligno en la resección completa, por lo que se consideraron 25. Se trató de 16 mujeres, 9 varones, edad media 28,4.La localización fue: 13 miembro inferior (1coxal, 7 fémur, 3 tibia y 2 calcáneo), 9 miembro superior (1 húmero, 2 radio, 2 cúbito, 3 metacarpianos y 2 falanges) y 3 columna (1 cervical, 1 torácica y 1 sacra). Un paciente tuvo localización múltiple en la mano. Según Enneking 10 eran activos y 13 agresivos. Histología: 12 Tumores de células gigantes (TCG), 5 condromas, 4 quiste óseo simple, 3 quiste óseos aneurismáticos y 1 hemangioma. La resección fue intralesional en 16, en 3 marginal y en 6 amplia (1 amputación). La media de días de estada fue 7 días (0 a 33), 5 internación en UTI. La reconstrucción se hizo con: Injerto de Banco 7, Injerto de cresta 7, Injerto M.sup 3, Prótesis 2, Peroné vascularizado 2, Sustituto óseo y cemento en 1. Sin reconstrucción en 2. Dos tuvieron adyuvancia con denosumab. Once tuvieron complicaciones. Hubo un óbito. En 18/25 la resección realizada coincidió con los criterios de resección (Enneking). CONCLUSIONES: A pesar de la benignidad histológica, los tumores líticos primarios requirieron procedimientos complejos, con un 40 % de complicaciones. En el 72% la resección realizada concordó con los criterios de resección de Enneking.
INTRODUCTION: Primary bone tumors are rare. The localization, extension and lytic character make the treatment difficult even though the biological behavior is benign. OBJECTIVES: Assess the characteristics and treatments of active or aggressive benign primary lytic bone tumors treated in the El Cruce hospital. Compare the resection made with the one suggested by Enneking criteria. MATERIALS AND METHODS: Clinical records and postsurgical grand rounds were evaluated on patients diagnosed with musculoskeletical tumors treated in the Orthopedics and Traumatology Service of Hospital El Crucefrom August 2008 to June 2017. Enneking's criteria based on biologic behavior and resection were used. RESULTS:Twenty-six patients diagnosed with active or aggressive lytic bone tumor were evaluated out of a total of 124 operated primary musculoskeletal tumors. A patient was reclassified as malignant on the complete resection, therefore 25 were considered. There were 16 women, 9 men; average age was 28.4.The tumor localization was: 13 in lower extremity (1 coxal, 7 femoral, 3 tibial and 2 in calcaneus), 9 in upper extremity (1 humeral, 2 radial, 2 ulnar, 3 metacarpal y 2 in phalanges) and 3 in spine (1 cervical, 1 thoracic y 1 sacral). A patient had multiple localizations in his hand. Based on Enneking, 10 were active and 13 were aggressive. Histology: 12 giant-cell tumors (GCT), 5 chondromas, 4 simple bone cysts, 3 aneurysmal bone cysts and 1 hemangioma. The resection was intralesional in 16, marginal in 3 and ample in 6 (1 amputation). Mean hospitalization stay was 7 days (0 to 33), 5 days in ICU. The reconstruction was made with: draft from banks in 7, drafts from crests in 7, draft from upper extremity in 3, prosthesis in 2, vascularized fibula in 2, bone substitute and cement in 1. No reconstruction in 2.Two had adjuvant therapy with denosumab. Eleven had complications. There was one death. In 18 out of 25, the resection matched the resection criteria (Enneking). CONCLUSIONS: Despite the histological benignity, primary lytic tumors required complex procedures and there were 40% complications. In72%, the resection matched the resection criteria (Enneking).