Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 66
Filtrar
Mais filtros










Intervalo de ano de publicação
1.
Am J Surg Pathol ; 44(6): 748-756, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32412716

RESUMO

Giant cell tumor of bone (GCT) is a benign locally aggressive neoplasm composed of mononuclear cells admixed with innumerable osteoclast-type giant cells. H3F3A gene mutations producing mutant histone protein product H3.3 have been identified in 96% of GCT; mutant H3.3 is reliably demonstrated by immunohistochemistry. GCT may contain woven bone and rarely, neoplastic cartilage nodules which causes diagnostic challenges with aggressive neoplasms such as osteosarcoma. We describe the features of GCT with cartilage matrix and report the next-generation sequencing findings in a subset of tumors. Seventeen cases of GCT with cartilage matrix form the cohort: 7 males and 10 females, 13 to 55 (mean: 25) years old. Tumors involved the fibula (6), femur (6), and patella, tibia, humerus, S1, and scapula (1 case each). Tumors were radiolucent, circumscribed, lytic, and expansile. All contained classic GCT, foci of cartilage matrix, and trabeculae of woven bone. Immunohistochemistry showed diffuse staining for H3.3 in 9/9 cases and 1 case was positive for S100 and SOX9 in the cartilage areas. Next-generation sequencing showed a mutation in the H3F3A gene in 6/6 cases. On follow-up, 2 patients who underwent resection showed no disease after 12, and 7 months, respectively. Three patients had recurrences 10, 12, and 27 months after curettage; there were no metastases. GCT with cartilage matrix is uncommon. The cartilage matrix is associated with woven bone suggesting the neoplastic cells may differentiate into chondrocyte-like and osteoblast-like cells. Recognition of this neoplasm is important to prevent misdiagnosis and overtreatment of affected patients.

3.
Skeletal Radiol ; 49(3): 483-489, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31656976

RESUMO

Diffuse-type tenosynovial giant cell tumor (TSGCT) is a rare, locally aggressive neoplasm. It most commonly occurs in the knee, followed by the hip, and has distinctive imaging features, including mass-like foci of low T2 signal intensity, "blooming" on gradient-echo MRI, and pronounced uptake on FDG PET/CT. Histologically, TSGCT demonstrates a neoplastic population of mononuclear cells admixed with hemosiderin-laden macrophages, foamy histiocytes, inflammatory cells, and osteoclast-like giant cells. In cases where diffuse-type TSGCT presents in an uncommon location or with atypical features, the imaging diagnosis may be challenging. Furthermore, because of its polymorphous appearance, it may be mistaken microscopically for other neoplastic and non-neoplastic histiocytic lesions. Herein, we present two cases of diffuse-type TSGCT presenting as large masses, and underscore the importance of radiologic-pathologic correlation for accurate diagnosis.

4.
Histopathology ; 76(2): 308-317, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31429985

RESUMO

AIMS: Chondroblastomas (CB) are rare bone tumours that typically arise in the epiphysis/apophysis of long bones in skeletally immature patients. We explore the clinicopathological features of CB presenting in adults. METHODS AND RESULTS: CB in patients ≥20 years of age were retrieved from our institutional archives. Thirty-nine CB were identified (29 male/10 female; aged 20-54 years). Twenty (51%) cases occurred in long tubular bones, 10 (26%) in small bones of the feet, five (13%) in flat bones and four (10%) in the patella. All cases showed classic cytological features of CB, and chondroid matrix was universally present. Calcification was identified in 10 cases (26%), including various combinations of serpiginous (n = 7), punctate (n = 6), classic chicken-wire (n = 4) and psammomatous (n = 2) patterns. Haemosiderin (n = 19), woven bone (n = 13), secondary aneurysmal bone cyst formation (n = 8), foamy macrophages (n = 4), hyalinised vascular spaces (n = 2) and cholesterol clefts (n = 2) were noted. Follow-up information (n = 32, 1-452 months) revealed local recurrence in three patients, all >40 years of age with flat bone origin, one of which developed pulmonary metastases 132 months after initial diagnosis. CONCLUSIONS: CB in patients >20 years of age more frequently involves the short bones of the hands/feet and flat bones compared to those arising in their younger counterparts. A subset may harbour extensive serpiginous or psammomatous calcification rather than the classic chicken-wire pattern. Although the overall local recurrence rate in adulthood is approximately 10%, all three patients with recurrent disease had tumours involving flat bones, suggesting that tumours arising in these sites may behave more aggressively.

5.
J Neurosurg ; : 1-5, 2019 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-31518983

RESUMO

Benign notochordal cell tumors (BNCTs) are considered to be benign intraosseous lesions of notochord origin; however, recent spine studies have suggested the possibility that some chordomas arise from BNCTs. Here, the authors describe two cases demonstrating histological features of BNCT and concomitant chordoma involving the clivus, which, to the best of the authors' knowledge, have not been previously documented at this anatomical site.An 18-year-old female presented with an incidentally discovered clival mass. Magnetic resonance imaging revealed a 2.8-cm nonenhancing lesion in the upper clivus that was T2 hyperintense and T1 hypointense. She underwent an uneventful endoscopic transsphenoidal resection. Histologically, the tumor demonstrated areas of classic chordoma and a distinct intraosseous BNCT component. The patient completed adjuvant radiation therapy. Follow-up showed no recurrence at 18 months.A 39-year-old male presented with an incidentally discovered 2.8-cm clival lesion. The nonenhancing mass was T2 hyperintense and T1 hypointense. Surgical removal of the lesion was performed through an endoscopic transsphenoidal approach. Histological analysis revealed areas of BNCT with typical features of chordoma. Follow-up did not demonstrate recurrence at 4 years.These cases document histologically concomitant BNCT and chordoma involving the clivus, suggesting that the BNCT component may be a precursor of chordoma.

7.
Skeletal Radiol ; 48(9): 1443-1449, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30719535

RESUMO

Synovial chondromatosis is an uncommon benign neoplasm that usually affects large appendicular joints and only rarely the spine. There are only a few small series and case reports documenting malignant transformation of synovial chondromatosis into secondary chondrosarcoma, typically within the hip in the setting of recalcitrant disease and multiple recurrences. Chondrosarcoma arising in synovial chondromatosis of the spine is exceedingly rare, with only one previously published case report involving the craniocervical junction. We present a case of chondrosarcoma arising within synovial chondromatosis of the lumbosacral spine, with the diagnosis made at the time of initial presentation. We describe the clinical, imaging, and histopathological findings and review diagnostic criteria for this difficult diagnosis.


Assuntos
Neoplasias Ósseas/complicações , Neoplasias Ósseas/diagnóstico por imagem , Condromatose Sinovial/complicações , Condromatose Sinovial/diagnóstico por imagem , Condrossarcoma/complicações , Condrossarcoma/diagnóstico por imagem , Adulto , Neoplasias Ósseas/patologia , Condromatose Sinovial/patologia , Condrossarcoma/patologia , Diagnóstico Diferencial , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/patologia , Região Lombossacral/diagnóstico por imagem , Região Lombossacral/patologia , Imagem por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos
8.
Hum Pathol ; 91: 123-128, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30496800

RESUMO

Adamantinoma of the long bones is a rare, typically low-grade malignant tumor that frequently involves the tibia. Radiographically, adamantinoma is characteristically a lytic, intracortical, and expansile lesion with variable margins. Histologically, adamantinoma is a bimorphic neoplasm, composed of epithelial and osteofibrous elements. Herein, we describe a 72-year-old man with a long-standing tibial mass that, on imaging, rapidly developed cortical destruction with soft tissue extension. Imaging revealed no evidence of a distant site of origin. Needle core biopsy demonstrated high-grade squamous cell carcinoma, and metastasis was initially favored. However, the combined clinicoradiologic and pathologic features were most compatible with a high-grade squamous cell carcinoma arising in adamantinoma. The diagnosis was confirmed in the resection specimen. Both the age at presentation and histologic features make this case unusual and highlight a potential for misdiagnosis in the evaluation of squamous cell carcinoma-containing lesions of the tibia, reinforcing the importance of clinicoradiologic correlation in bone pathology.

9.
J Surg Oncol ; 118(7): 1150-1154, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30332521

RESUMO

BACKGROUND: Adamantinomas are rare bone tumors, commonly affecting the tibia. Due to the rare nature of disease, previous studies are small or from multiple centers. The purpose of this study is to investigate outcomes of patients with adamantinoma treated in a single institution. METHODS: Forty-six histological confirmed adamantinomas of the extremities were reviewed at our institution between 1939 and 2012. Follow-up data included clinical and radiographical information focusing on complications, local recurrence, metastasis, and overall survival after the treatment. The mean follow-up was 16 years (range 2-42 years). RESULTS: The most common location was the tibia (n = 31). Patients commonly presented with pain and swelling. The mean age was 24 years (7-79 years). Thirty-seven patients were treated with limb salvage. The 39% of patients required a reoperation. The 10-year disease specific- and recurrence free survival was 92% and 72%, with three patients having a recurrence over 15 years postoperative. Older (> 20 years) patients and males were at increased risk of local recurrence (P < 0.05). CONCLUSION: Treatment of adamantinoma of the long bone consists of limb-salvage surgery. Male patients should be cautioned on their increased risk of disease recurrence, and advocate for continued surveillance of patients even greater than 15-years postoperatively due to late tumor recurrence.


Assuntos
Adamantinoma/mortalidade , Adamantinoma/patologia , Neoplasias Ósseas/mortalidade , Neoplasias Ósseas/patologia , Adamantinoma/cirurgia , Adolescente , Adulto , Fatores Etários , Idoso , Amputação/estatística & dados numéricos , Neoplasias Ósseas/cirurgia , Criança , Feminino , Seguimentos , Humanos , Salvamento de Membro/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Pós-Traumáticas/mortalidade , Neoplasias Pós-Traumáticas/patologia , Neoplasias Pós-Traumáticas/cirurgia , Doenças Raras , Estudos Retrospectivos , Fatores Sexuais , Adulto Jovem
10.
Am J Clin Pathol ; 149(3): 222-233, 2018 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-29425276

RESUMO

Objectives: Most giant cell tumors of bone (GCTs) occur in patients aged 20 to 40 years. We analyzed features of GCT in patients 55 years or older. Methods: GCTs were examined for fibrosis, matrix, cystic change, histiocytes, mitoses, and necrosis. Clinical/radiologic data were collected. Results: Thirty-four (5%) of 710 GCTs occurred in patients older than 55 years (14/20 male/female; 56-83 years) in long bones (n = 24), vertebrae (n = 6), pelvis (n = 3), and metacarpal (n = 1). Imaging was classic in 26 of 27 cases; one case appeared malignant. Morphologic patterns included fibrosis (n = 29), bone formation (n = 19), cystic change (n = 8), necrosis (n = 8), foamy histiocytes (n = 7), and secondary aneurysmal bone cyst formation (n = 1). Mitoses ranged from 0 to 18 per 10 high-power fields. Six recurred; one patient developed metastasis. Four of five cases harbored H3F3A mutations. Conclusions: GCTs in patients 55 years or older share pathologic characteristics with those arising in younger adults. Fibrosis and reactive bone are common, potentially leading to diagnostic confusion in this population. No histologic features correlate with adverse outcome.


Assuntos
Tumor de Células Gigantes do Osso/diagnóstico , Tumor de Células Gigantes do Osso/patologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico
11.
Surg Pathol Clin ; 10(3): 731-748, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28797511

RESUMO

A number of nonneoplastic conditions can mimic tumors of bone. Some of the more common mimics of primary bone tumors include infectious, inflammatory, periosteal, and degenerative joint disease-associated lesions that produce tumorlike bone surface-based or intraosseous lesions. This article considers a spectrum of reactive and nonreactive processes including stress fracture, subchondral cysts, osteonecrosis, heterotopic ossification, osteomyelitis, sarcoidosis, and amyloidoma that can present in such a way that they are mistaken for a tumor arising primary in bone.


Assuntos
Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/patologia , Cistos Ósseos/diagnóstico por imagem , Cistos Ósseos/patologia , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/patologia , Diagnóstico Diferencial , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/patologia , Humanos , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/patologia , Osteomielite/diagnóstico por imagem , Osteomielite/patologia , Osteonecrose/diagnóstico por imagem , Osteonecrose/patologia
12.
J Orthop Res ; 35(5): 1137-1146, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27324965

RESUMO

Osteoblastoma is a benign bone tumor that can often be difficult to distinguish from malignant osteosarcoma. Because misdiagnosis can result in unfavorable clinical outcomes, we have investigated microRNAs as potential diagnostic biomarkers for distinguishing between these two tumor types. Next generation RNA sequencing was used as an expression screen to evaluate >2,000 microRNAs present in tissue derived from rare formalin fixed paraffin embedded (FFPE) archival tumor specimens. MicroRNAs displaying the greatest ability to discriminate between these two tumors were validated on an independent tumor set, using qPCR assays. Initial screening by RNA-seq identified four microRNA biomarker candidates. Expression of three miRNAs (miR-451a, miR-144-3p, miR-486-5p) was higher in osteoblastoma, while the miR-210 was elevated in osteosarcoma. Validation of these microRNAs on an independent data set of 22 tumor specimens by qPCR revealed that miR-210 is the most discriminating marker. This microRNA displays low levels of expression across all of the osteoblastoma specimens and robust expression in the majority of the osteosarcoma specimens. Application of these biomarkers to a clinical test case showed that these microRNA biomarkers permit re-classification of a misdiagnosed FFPE tumor sample from osteoblastoma to osteosarcoma. Our findings establish that the hypoxia-related miR-210 is a discriminatory marker that distinguishes between osteoblastoma and osteosarcoma. This discovery provides a complementary molecular approach to support pathological classification of two diagnostically challenging musculoskeletal tumors. Because miR-210 is linked to the cellular hypoxia response, its detection may be linked to well-established pro-angiogenic and metastatic roles of hypoxia in osteosarcomas and other tumor cell types. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:1137-1146, 2017.


Assuntos
Neoplasias Ósseas/diagnóstico , MicroRNAs/análise , Osteoblastoma/diagnóstico , Osteossarcoma/diagnóstico , Biomarcadores/análise , Neoplasias Ósseas/química , Diagnóstico Diferencial , Humanos , Osteoblastoma/química , Osteossarcoma/química , Reação em Cadeia da Polimerase , Análise de Sequência de RNA
13.
Laryngoscope ; 127(10): 2340-2346, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-27888510

RESUMO

OBJECTIVES: To elucidate the clinical behavior, treatment, and outcomes of tenosynovial giant cell tumors (TGCT) involving the temporomandibular joint (TMJ) and adjacent temporal bone. STUDY DESIGN: Retrospective case series with histopathologic review. METHODS: A retrospective chart review was performed identifying and collecting data from all cases of TGCT involving the TMJ and adjacent temporal bone that were treated at the authors' center between January 1960 and December 2015. RESULTS: Eleven histopathologically confirmed cases met inclusion criteria. The median age at diagnosis was 49 years, eight patients were men, and the median follow-up was 116 months. Computed tomographic (CT) imaging revealed a lytic expansile mass centered on the TMJ. Magnetic resonance imaging (MRI) most commonly exhibited hypointense signal on precontrast T1- and T2-weighted sequences and variable postcontrast enhancement. The median delay in diagnosis was 24 months, and the most common presenting symptoms were hearing loss and pain. All patients underwent surgical resection, eight receiving gross total removal, one receiving near total removal, and two patients from early in the series receiving subtotal resection with neoadjuvant or adjuvant radiation. Histopathological review of surgical specimens revealed chondroid metaplasia in seven tumors. Eight of nine cases receiving gross total or near total resection have no evidence of recurrence to date. CONCLUSIONS: TGCT of the TMJ and temporal bone are rare and locally aggressive tumors that commonly present with nonspecific symptoms. A careful review of CT and MRI followed by early biopsy is critical in establishing an accurate diagnosis and facilitating appropriate treatment. TGCT of the TMJ more commonly contain chondroid metaplasia when compared to TGCT at other anatomic locations. Gross total resection is achievable in most cases and offers long-term cure. Radiation may be considered for recurrent disease or adjuvant therapy following subtotal resection. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:2340-2346, 2017.


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico , Base do Crânio/diagnóstico por imagem , Neoplasias Cranianas/diagnóstico , Transtornos da Articulação Temporomandibular/diagnóstico , Articulação Temporomandibular/diagnóstico por imagem , Adulto , Biópsia , Terapia Combinada , Diagnóstico Diferencial , Feminino , Seguimentos , Tumor de Células Gigantes de Bainha Tendinosa/terapia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cranianas/terapia , Transtornos da Articulação Temporomandibular/terapia , Tomografia Computadorizada por Raios X
14.
Am J Surg Pathol ; 41(1): 39-48, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27819871

RESUMO

By the current WHO classification, benign notochordal cell tumor (BNCT) and chordoma comprise the entire spectrum of notochordal-derived tumors. They have defined radiologic and histologic criteria, and differ considerably in management and clinical outcome. Chordomas are malignant tumors; they show progressive, destructive growth and have the capacity for metastasis. In contrast, BNCT are benign and show limited intraosseous growth. Patients with BNCT can be managed with serial imaging or conservative excision, whereas patients with spinal/sacral chordomas typically undergo radical en bloc resection often with adjuvant therapy and significant morbidity. As such, the distinction between BNCT and chordoma is critically important. We have seen 4 unusual notochordal tumors with radiologic and/or histologic features that defy classification as either BNCT or chordoma. Cases occurred in 4 adults (53 to 83 y), and involved the lumbar spine (N=2) and sacrum (N=2). Three cases had subtle radiologic features of cortical permeation with minimal soft tissue extension. All 4 cases had the characteristic histologic features of BNCT; however, 2 cases also had focal myxoid change. Three patients were followed with serial imaging (follow-up range, 26 to 120 mo); 2 showed no disease progression and 1 had a 10-year cumulative interval growth of 3.7 mm. One patient underwent sacrectomy. The tumor was examined in toto and had the characteristic histologic features of BNCT, with the exception of minimal soft tissue extension. On the basis of these observations, we propose a provisional designation of atypical notochordal cell tumors (ANCT) be used for the subset of notochordal-derived tumors that fail to fulfill current diagnostic criteria for either BNCT or chordoma. We would argue that designating these atypical notochordal tumors as chordoma precipitates potentially overly aggressive surgical management. Patients with ANCT may be better managed by close observation and serial imaging. Additional studies with more cases and longer clinical follow-up should clarify the relationship of ANCT to BNCT and chordoma.


Assuntos
Cordoma/patologia , Neoplasias Embrionárias de Células Germinativas/patologia , Notocorda/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
15.
Skeletal Radiol ; 45(11): 1467-72, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27538971

RESUMO

PURPOSE: Intravascular papillary endothelial hyperplasia (IPEH) is a soft tissue, tumor-like, benign, reactive, vascular proliferation that, although not rare, is uncommonly imaged. We report the imaging findings of intravascular papillary endothelial hyperplasia in 13 patients, highlighting characteristic imaging features. MATERIALS AND METHODS: We retrospectively reviewed 13 patients with IPEH who had corresponding MR and/or ultrasound imaging. MR imaging studies were evaluated for lesion location, shape, size, signal intensity, signal heterogeneity, and enhancement. Ultrasound studies were assessed for lesion shape, size, echogenicity, heterogeneity, and vascularity. Demographic data, including patient age, gender, and clinical history were also reviewed. RESULTS: Most patients (11 of 13) presented with an enlarging mass. The age range was 10-72 years (mean 46) with ten females and three males. Eleven of the 13 lesions were primary IPEH without an associated preexisting vascular lesion. Ten of 13 lesions were in the superficial soft tissues, all of which were primary IPEH. Two of the three lesions in the deep tissues were secondary IPEH, arising within a preexisting vascular lesion. Lesions were small (mean 1.4 cm) and had a rounded shape. All of the primary lesions demonstrated high T2 signal peripherally and variable T2 signal centrally, with most demonstrating superficial location (91 %), peripheral enhancement (89 %) and associated dominant vessel (73 %). The five lesions evaluated by ultrasound were all hypoechoic with either scattered or peripheral vascularity on Doppler. CONCLUSIONS: Primary papillary endothelial hyperplasia is commonly seen in the superficial soft tissues when captured on imaging and has a characteristic imaging appearance.


Assuntos
Endotélio Vascular/diagnóstico por imagem , Hemangioendotelioma/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Neoplasias de Tecidos Moles/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Adulto , Idoso , Criança , Diagnóstico Diferencial , Endotélio Vascular/patologia , Feminino , Hemangioendotelioma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecidos Moles/patologia , Adulto Jovem
16.
Am J Surg Pathol ; 40(12): 1702-1712, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27526293

RESUMO

Although the majority of giant cell tumors (GCTs) of the bone occur in adult patients, occasionally they arise in the pediatric population. In this setting they may be mistaken for tumors more commonly seen in this age group, including osteosarcoma, aneurysmal bone cyst, and chondroblastoma. All cases of primary GCT of the bone arising in patients 18 years and below were retrieved from our institutional archives and examined with emphasis on the evaluation of various morphologic patterns. Clinical/radiologic records were reviewed when available. Analysis for H3F3A/H3F3B mutations was performed in a subset of cases. Sixty-three (of 710) patients treated at our institution for GCT were 18 years of age and below. The following morphologic patterns were identified: fibrosis (31 cases, 49%), reactive-appearing bone (26, 41%), cystic change (7, 11%), foamy histiocytes (6, 10%), secondary aneurysmal bone cyst (3, 5%), and cartilage (2, 3%). Infarct-like necrosis was present in 17 tumors (27%), and the mitotic rate ranged from 0 to 35 mitoses/10 high-power fields (median 5 mitoses/10 high-power field). Follow-up information (n=55; 6 mo to 69.6 y; median, 11.6 y) showed 21 patients with local recurrence (38%) and 2 patients with lung metastasis (4%). Polymerase chain reaction with sequencing showed that 5 of 5 tested cases harbored H3F3A mutations. In summary, GCT arising in the pediatric population is rare, representing 9% of GCTs seen at our institution. The morphologic spectrum of these tumors is broad and similar to that seen in patients above 18 years of age. It is important to recognize that matrix formation may be observed in GCT, including reactive-appearing bone and cartilage, as well as areas of fibrosis mimicking osteoid production, to avoid misclassification as osteosarcoma or other giant cell-rich lesions common in children.


Assuntos
Neoplasias Ósseas/patologia , Tumor de Células Gigantes do Osso/patologia , Adolescente , Biomarcadores Tumorais/genética , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/genética , Neoplasias Ósseas/terapia , Criança , Pré-Escolar , Feminino , Seguimentos , Tumor de Células Gigantes do Osso/diagnóstico , Tumor de Células Gigantes do Osso/genética , Tumor de Células Gigantes do Osso/terapia , Histonas/genética , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Mutação , Prognóstico , Modelos de Riscos Proporcionais
17.
Laryngoscope ; 126(9): E310-3, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26667047

RESUMO

We present a case series of a family with three members having cartilaginous tumors of the mastoid. All patients presented between the ages of 9 to 12 years with acute onset facial nerve paralysis. Histologic analysis of all tumors showed similar features, consistent with atypical cartilaginous tumors/chondrosarcoma, low-grade. Conventional cytogenetic analysis performed on one of the sons' tumor showed no evidence of chromosomal abnormality. High-resolution array comparative genomic hybridization performed on the same patient's blood also showed no unbalanced chromosomal abnormality. This is the first report of family members with this unusual combination of clinical, radiologic, and histologic finding. Laryngoscope, 126:E310-E313, 2016.


Assuntos
Condrossarcoma/genética , Processo Mastoide , Neoplasias Cranianas/genética , Criança , Condrossarcoma/patologia , Feminino , Humanos , Masculino , Gradação de Tumores , Neoplasias Cranianas/patologia
18.
Skeletal Radiol ; 45(1): 63-71, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26363786

RESUMO

OBJECTIVE: To describe the radiographic, CT, and MRI appearance of synovial chondromatosis of the spine. MATERIALS AND METHODS: Radiology and pathology databases were searched for cases of spinal synovial chondromatosis from 1984 through 2013, yielding 29 patients (16 males, 13 females). The average age was 45 years. Twenty-eight patients had imaging studies available for review including seven radiographs, two myelograms, 13 CT, and 23 MRI exams. RESULTS: Cases were located in the cervical spine (16), thoracic spine (6), lumbar spine (6), and sacrum (1). Twenty-two cases (79%) had an epidural component. Eighteen (64%) had a neural foraminal component. Sixteen (57%) had a paraspinal component. The mass abutted a facet joint in 96% of cases. Nearly all (96%) showed a normal facet joint without internal erosive changes. Most (79%) showed evidence of chronic extrinsic bony erosion, usually involving the surface of the facet. Only 44% had calcifications as a dominant finding. Most patients (88%) had evidence of neural compression. On T1-weighted MRI, 80% showed intermediate or a combination of intermediate and dark signal. On T2-weighted images, 89% showed heterogeneous signal with discrete areas of dark signal. The majority (83%) showed a peripheral pattern of enhancement, usually peripheral nodular. CONCLUSIONS: Synovial chondromatosis should be considered in the differential diagnosis when evaluating an epidural and/or paraspinal mass near a facet joint, especially when there is evidence of chronic extrinsic bone erosion, dark signal or nodules on T1 and/or T2, and nonenhancing fluid or myxoid signal centrally with thin or nodular peripheral enhancement.


Assuntos
Condromatose Sinovial/diagnóstico por imagem , Condromatose Sinovial/patologia , Doenças da Coluna Vertebral/diagnóstico por imagem , Doenças da Coluna Vertebral/patologia , Articulação Zigapofisária/diagnóstico por imagem , Articulação Zigapofisária/patologia , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodos
19.
Arch Pathol Lab Med ; 139(9): 1149-55, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25978765

RESUMO

CONTEXT: Although primary bone tumors are extremely rare, the literature suggests that there are variations in the epidemiologic characteristics in different populations. The most frequently cited epidemiologic characteristics of primary bone tumors are derived from a large US series (Mayo Clinic), with no comparable study thus far performed in China. OBJECTIVE: To identify any potential epidemiologic differences between Chinese patients and a US series of patients. DESIGN: We performed a comparison study between 9200 patients treated at Beijing Ji Shui Tan Hospital (JST) and 10 165 patients treated at Mayo Clinic (MC), Rochester Minnesota. Detailed epidemiologic features were analyzed. RESULTS: We found that giant cell tumor and osteosarcoma have significantly higher incidences in the JST than the MC patients (P < .001). However, JST patients had a significantly lower incidence of Ewing sarcoma, chordoma, fibrosarcoma, myeloma, and malignant lymphoma (P < .001). For most benign and malignant bone tumors, the Chinese cohort had a more distinct male predominance than the US cohort. Malignant bone tumors had a monomodal age distribution in the JST patient group, with a bimodal age distribution in the MC cohort. Also, there were was a predilection for tumors of the femur and tibia among the JST patients (P < .001). CONCLUSIONS: Our data confirm that epidemiologic variations of primary bone tumors exist in different populations. Factors that may contribute to these observed differences are proposed and discussed.


Assuntos
Neoplasias Ósseas/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias Ósseas/patologia , Criança , Pré-Escolar , China/epidemiologia , Estudos de Coortes , Feminino , Tumor de Células Gigantes do Osso/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Sarcoma de Ewing/epidemiologia , Distribuição por Sexo , Estados Unidos/epidemiologia , Adulto Jovem
20.
Am J Surg Pathol ; 38(3): 402-9, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24525511

RESUMO

Parosteal osteosarcoma is a surface-based osteosarcoma that often exhibits deceptively bland cytologic features, hindering diagnosis in small biopsies or when correlative radiologic imaging is not readily available. A number of benign and malignant fibro-osseous lesions, including fibrous dysplasia (FD) and low-grade central osteosarcoma, fall within the morphologic differential diagnosis of parosteal osteosarcoma. Somatic mutations in GNAS, encoding the α-subunit of the heterotrimeric G protein complex (Gsα), occur in FD and McCune-Albright syndrome but have not been reported in parosteal osteosarcoma. We evaluated GNAS mutational status in parosteal osteosarcoma and several of its histologic mimics to determine its utility in differentiating these entities. Eleven of 14 (79%) FD cases had GNAS mutations within codon 201 (5 R201C and 6 R201H mutations). GNAS mutations were not detected in any cases of adamantinoma or osteofibrous dysplasia. Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation. GNAS codon 227 mutations were not detected in any of the cases. There was no association between GNAS mutational status and patient demographics, histologic dedifferentiation, or clinical outcome. To our knowledge, we report the first series of parosteal osteosarcomas harboring activating GNAS mutations. Our data suggest that GNAS mutational status may have limited utility as an ancillary technique in differentiating benign and malignant fibro-osseous lesions of the bone.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias Ósseas/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Mutação , Osteossarcoma/genética , Adamantinoma/genética , Adamantinoma/patologia , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/patologia , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/patologia , Desdiferenciação Celular , Criança , Cromograninas , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Displasia Fibrosa Óssea/genética , Displasia Fibrosa Óssea/patologia , Predisposição Genética para Doença , Testes Genéticos/métodos , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Osteossarcoma/diagnóstico por imagem , Osteossarcoma/patologia , Fenótipo , Valor Preditivo dos Testes , Tomografia Computadorizada por Raios X , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA