RESUMO
BACKGROUND: New entities in the classification of bone and soft tissue tumors have been identified by use of advanced molecular-genetic techniques, including next-generation sequencing. Clinicoradiologic and pathologic correlation supports diagnostic classification. METHODS: Tumors from four morphologically grouped areas are selected to enhance diagnosis and awareness among the multidisciplinary team. These include select round cell tumors, spindle cell tumors, targetable tyrosine kinase/RAS::MAPK pathway-ovoid (epithelioid to spindled) tumors, and giant-cell-rich tumors of bone and soft tissue. RESULTS: Round cell tumors of bone and soft tissue include prototypical Ewing sarcoma, newer sarcomas with BCOR genetic alteration and CIC-rearranged, as well as updates on FUS/EWSR1::NFATc2, an EWSR1 non-ETS tumor that is solid with additional amplified hybridization signal pattern of EWSR1. This FUS/EWSR1::NFATc2 fusion has now been observed in seemingly benign to low-grade intraosseous vascular-rich and simple (unicameral) bone cyst tumors. Select spindle cell tumors of bone and soft tissue include rhabdomyosarcoma with FUS/EWSR1::TFCP2, an intraosseous high-grade spindle cell tumor without matrix. Targetable tyrosine-kinase or RAS::MAPK pathway-tumors of bone and soft tissue include NTRK, ALK, BRAF, RAF1, RET, FGFR1, ABL1, EGFR, PDGFB, and MET with variable ovoid myopericytic to spindled pleomorphic features and reproducible clinicopathologic and radiologic clues to their diagnosis. Giant-cell-rich tumors of bone, joint, and soft tissue are now respectively characterized by H3F3A mutation, CSF1 rearrangement (targetable), and HMGA2::NCOR2 fusion. CONCLUSION: This article is an update for radiologists, oncologists, surgeons, and pathologists to recognize these novel ovoid, spindled, giant-cell-rich, and round cell tumors, for optimal diagnostic classification and multidisciplinary team patient care.
Assuntos
Rabdomiossarcoma , Sarcoma de Ewing , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Sarcoma/patologia , Sarcoma de Ewing/patologia , Fatores de Transcrição/genética , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/genética , Biomarcadores Tumorais/genética , Proteínas de Ligação a DNA/genéticaRESUMO
Enchondroma and chondrosarcoma are two of the most commonly encountered primary bone lesions in the typical radiology practice. The purpose of this article is to review the clinical, radiological, and pathological features that distinguish conventional chondrosarcoma from enchondroma. Chondrosarcoma is almost always associated with pain and tends to present in the axial skeleton of middle aged adults. Enchondroma tends to present in young adults in the appendicular skeleton, particularly the hands, and is often an incidental finding. Although both lesions have characteristic radiographic appearances, difficulty separating these two entities most often occurs when a lesion is seen in the long tubular bones. The judicious use of computed tomography, magnetic resonance imaging, and nuclear medicine in conjunction with appropriate clinical data allows the radiologist to establish the correct diagnosis of benign or malignant medullary chondroid lesion in the majority of cases.
Assuntos
Doenças Ósseas/diagnóstico , Neoplasias Ósseas/diagnóstico , Condrossarcoma/diagnóstico , Encondromatose/diagnóstico , Doenças Ósseas/patologia , Neoplasias Ósseas/patologia , Condrossarcoma/patologia , Diagnóstico Diferencial , Diagnóstico por Imagem , Encondromatose/patologia , HumanosRESUMO
Primary osseous tumors of the spine are rare lesions and much less frequently encountered than metastases, multiple myeloma, and lymphoma. The interpreting radiologist must be aware of the typical radiographic appearance of the most common nonmyeloproliferative tumors of the spine because these tumors must be considered when a solitary spinal lesion is encountered. The purpose of this article is to describe the radiologic appearance and radiologic staging of the most common benign (hemangioma, enostosis, osteoid osteoma, osteoblastoma, giant cell tumor, aneurysmal bone cyst, and osteochondroma) and malignant (chordoma, chondrosarcoma, Ewing tumor, and osteosarcoma) osseous spine tumors.
Assuntos
Diagnóstico por Imagem , Neoplasias da Coluna Vertebral/diagnóstico , Diagnóstico Diferencial , Humanos , Estadiamento de NeoplasiasRESUMO
The aim of this study is to review the referral patterns for ovarian cancer in the Grampian region of Scotland and assess the impact of a 'fast track' clinic on the patient journey. Population-based retrospective analysis of a gynaecological cancer database and patient case notes were used. After its inception, 13.5% of patients were referred through the fast track clinic and 83% were seen within 2 weeks. Thirty-six per cent of patients were admitted as emergencies, mainly surgical or medical. The median general practitioner-to-specialist time was 3 days (range 0-188 days). The median time to diagnosis prior to the fast track clinic was 23 days and 17.5 days after its introduction (P = 0.003). A population-based ovarian cancer referral pattern is presented. Median waiting times are short but do influence time to diagnosis as do referral through a non-cancer specialty and patient performance status. Rapid access through a gynae-oncology clinic has some impact but is underused.
Assuntos
Medicina de Família e Comunidade/normas , Acessibilidade aos Serviços de Saúde/organização & administração , Neoplasias Ovarianas/diagnóstico , Padrões de Prática Médica/organização & administração , Feminino , Humanos , Encaminhamento e Consulta , Estudos Retrospectivos , EscóciaRESUMO
The radiologic features of giant cell tumor (GCT) and giant cell reparative granuloma (GCRG) of bone often strongly suggest the diagnosis and reflect their pathologic appearance. At radiography, GCT often demonstrates a metaepiphyseal location with extension to subchondral bone. GCRG has a similar appearance but most commonly affects the mandible, maxilla, hands, or feet. Computed tomography and magnetic resonance (MR) imaging are helpful in staging lesions, particularly in delineating soft-tissue extension. Cystic (secondary aneurysmal bone cyst) components are reported in 14% of GCTs. However, biopsy must be directed at the solid regions, which harbor diagnostic tissue. These solid components demonstrate low to intermediate signal intensity at T2-weighted MR imaging, a feature that can be helpful in diagnosis. Multiple GCTs, although rare, do occur and may be associated with Paget disease. Malignant GCT accounts for 5%-10% of all GCTs and is usually secondary to previous irradiation of benign GCT. Treatment of GCT usually consists of surgical resection. Recurrence is seen in 2%-25% of cases, and imaging is vital for early detection. Recognition of the spectrum of radiologic appearances of GCT and GCRG is important in allowing prospective diagnosis, guiding therapy, and facilitating early detection of recurrence.
Assuntos
Doenças Ósseas/diagnóstico , Doenças Ósseas/patologia , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Tumor de Células Gigantes do Osso/diagnóstico , Tumor de Células Gigantes do Osso/patologia , Granuloma de Células Gigantes/diagnóstico , Granuloma de Células Gigantes/patologia , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Cintilografia , Tomografia Computadorizada por Raios XRESUMO
Osteosarcoma is the most common primary malignant tumor of bone in adolescents and young adults. It accounts for approximately 15% of all primary bone tumors confirmed at biopsy. There are numerous types of primary osteosarcoma, including intramedullary (high grade, telangiectatic, low grade, small cell, osteosarcomatosis, and gnathic), surface (intracortical, parosteal, periosteal, and high-grade surface), and extraskeletal. Osteosarcoma may also occur as a secondary lesion in association with underlying benign conditions. The identification of osteoid matrix formation and aggressive characteristics usually allows prospective radiologic diagnosis of osteosarcoma. As with all bone tumors, differential diagnosis is best assessed with radiographs, whereas staging is performed with computed tomography or magnetic resonance imaging. Understanding and recognition of the variable appearances of the different varieties of osteosarcoma allow improved patient assessment and are vital for optimal clinical management including diagnosis, biopsy, staging, treatment, and follow-up.
Assuntos
Neoplasias Ósseas/diagnóstico por imagem , Osteossarcoma/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Osteossarcoma/diagnóstico , Osteossarcoma/patologia , Osteossarcoma Justacortical/diagnóstico , Osteossarcoma Justacortical/diagnóstico por imagem , Osteossarcoma Justacortical/patologia , Tomografia Computadorizada por Raios XRESUMO
Osteochondroma represents the most common bone tumor and is a developmental lesion rather than a true neoplasm. It constitutes 20%-50% of all benign bone tumors and 10%-15% of all bone tumors. Its radiologic features are often pathognomonic and identically reflect its pathologic appearance. Osteochondromas are composed of cortical and medullary bone with an overlying hyaline cartilage cap and must demonstrate continuity with the underlying parent bone cortex and medullary canal. Osteochondromas may be solitary or multiple, the latter being associated with the autosomal dominant syndrome, hereditary multiple exostoses (HME). Complications associated with osteochondromas are more frequent with HME and include deformity (cosmetic and osseous), fracture, vascular compromise, neurologic sequelae, overlying bursa formation, and malignant transformation. Malignant transformation is seen in 1% of solitary osteochondromas and in 3%-5% of patients with HME. Continued lesion growth and a hyaline cartilage cap greater than 1.5 cm in thickness, after skeletal maturity, suggest malignant transformation. Variants of osteochondroma include subungual exostosis, dysplasia epiphysealis hemimelica, turret and traction exostoses, bizarre parosteal osteochondromatous proliferation, and florid reactive periostitis. Recognition of the radiologic spectrum of appearances of osteochondroma and its variants usually allows prospective diagnosis and differentiation of the numerous potential complications, thus helping guide therapy and improving patient management.
Assuntos
Neoplasias Ósseas/diagnóstico , Imageamento por Ressonância Magnética , Osteocondroma/diagnóstico , Tomografia Computadorizada por Raios X , Biópsia , Diagnóstico Diferencial , HumanosRESUMO
Primary tumors of the spine are relatively infrequent lesions compared with metastatic disease, multiple myeloma, and lymphoma. However, when a solitary lesion of the spine occurs, these neoplasms represent an important group of entities for diagnostic consideration. A wide variety of benign neoplasms can involve the spine, including osteoid osteoma, osteoblastoma, aneurysmal bone cyst, giant cell tumor, enostosis, and osteochondroma. Common primary nonlymphoproliferative malignant neoplasms of the spine include chordoma, chondrosarcoma, Ewing sarcoma or primitive neuroectodermal tumor, and osteosarcoma. The imaging features of these lesions of the spine are often characteristic. These changes include a small sclerotic focus with irregular thorny margins in the vertebral body (enostosis), a small radiolucent nidus with central calcification in the posterior elements of the vertebral body (osteoid osteoma), a large expansile lesion with multiple fluid-fluid levels (aneurysmal bone cyst), and an aggressive mineralized mass (chondroid or osteoid) with osseous and soft-tissue involvement (chondrosarcoma or osteosarcoma). Radiologists should be aware of the appearance of these unusual neoplasms in order to provide a complete differential diagnosis and to guide clinical colleagues in patient treatment.
Assuntos
Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/patologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , Doenças da Coluna Vertebral/diagnóstico por imagem , Doenças da Coluna Vertebral/patologiaRESUMO
Distinction of enchondroma versus intramedullary chondrosarcoma affecting the appendicular skeleton (proximal to the metacarpals and metatarsals) is a frequent diagnostic dilemma. The authors studied a large series of patients with these lesions (92 with enchondromas, 95 with chondrosarcomas) using statistical assessment of both clinical parameters and numerous radiologic manifestations on images from multiple modalities to identify differentiating features. Multiple clinical and imaging parameters demonstrated statistically significant differences between enchondroma and chondrosarcoma, particularly pain related to the lesion, deep endosteal scalloping (greater than two-thirds of cortical thickness), cortical destruction and soft-tissue mass (at computed tomography or magnetic resonance imaging), periosteal reaction (at radiography), and marked uptake of radionuclide (greater than the anterior iliac crest) at bone scintigraphy. All of these features strongly suggested the diagnosis of chondrosarcoma. These criteria allow distinction of appendicular enchondroma and chondrosarcoma in at least 90% of cases.