Neuromuscular Choristoma: Report of Five Cases With CTNNB1 Sequencing.

Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for ß-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P. To understand the pathogenesis of NMC, we tested CTNNB1 status in 5 cases of NMC whether or not they were associated with DF. The screening of mutations in CTNNB1 gene was based on amplicon deep sequencing using the ION Proton platform. Three patients had the S45F mutation; in 2 the mutation was common to both lesions and in one the DF was wild type while the NMC had the S45F mutation. One patient had a T41A mutation in the NMC and no associated DF. In the last patient, the DF lesion had a T41A mutation; there was no lesion with the S45P mutation. The presence of similar CTNNB1 mutations in NMC/DF-associated lesions and sporadic DF reinforces the relationship between both lesions and points to a common pathogenic mechanism.

Clinicopathological implications of GNAS in Ewing sarcoma.

The objective of the present study was to determine whether guanine nucleotide-binding protein α stimulating (GNAS) gene expression correlates with pathognomonic signs by analyzing the mutations, methylation status and G-protein α subunit (Gsα) expression of GNAS in Ewing sarcoma (ES). Formalin-fixed paraffin-embedded tissue samples from 77 patients with primary ES were obtained in South Korea, Argentina and Brazil, and were studied via methylation chip assay and direct sequencing of the GNAS gene and immunohistochemical analysis of Gsα. The mutation and methylation statuses of the GNAS gene were examined. Immunohistochemical results were measured with respect to proportion and staining intensity. The results revealed that GNAS genes in ES tumor samples were less methylated compared with normal controls. No mutations were detected at exons 8 or 9 of the GNAS locus complex on chromosome 20q13.3, indicating that the pathogenesis of ES was not associated with GNAS mutation. Gsα expression correlated well with the methylation status of the GNAS gene. Notably, high Gsα expression was detected more frequently in samples from living patients than from decedents, although this was not statistically significant (P=0.055). In conclusion, GNAS mutation is not associated with the pathogenesis of ES tumors. This finding may be used to differentiate ES tumors from metastatic bone lesions with morphological similarity to ES tumors. Analysis of the methylation status of the GNAS gene and immunohistochemical Gsα expression suggests that hypermethylated GNAS (low Gsα expression) in ES may be associated with unfavorable progression with a non-significant trend.

CXCL16 and CXCR6 in Ewing sarcoma family tumor.

Chemokines are a family of peptide mediators that play an essential role in cellular migration and intracellular communication in tumor cells as well as immune cells. We hypothesized that the CXCL16-CXCR6 ligand-receptor system plays an important role in Ewing sarcoma (ES) family tumor (ESFT) progression. Using real-time quantitative reverse transcription-polymerase chain reaction, we investigated the mRNA expression of CXCL16, CXCR6, and ADAM 10 in various cell lines. We also investigated the expression of CXCL16, CXCR6, ADAM 10, and ADAM 17 in tissue samples from 61 ESFT patients using immunohistochemistry. The mRNA expression levels of CXCL16 and CXCR6 in the ES cell line were higher than those in the other cell lines. Immunohistochemical staining revealed that CXCL16 and CXCR6 were highly expressed in tumor cells of ESFT and showed a positive correlation between them. The expression of CXCL16 and CXCR6 was associated with the occurrence of lung metastasis. Univariate analysis revealed that CXCL16 or CXCR6 expression was associated with worse prognosis of ESFT patients. In addition, CXCL16 and CXCR6 expression was associated with shorter overall survival irrespective of other prognostic factors. Our results suggest that the CXCL16/CXCR6 axis appears to be important in the progression of ESFT, resulting in more aggressive clinical behavior. Furthermore, there may be a decrease in the overall survival in ESFT patients who have tumors that stain strongly for CXCL16 and CXCR6.

A simple bone cyst of the distal humerus with a t(7;12)(q21;q24.3) in a patient with hypophosphatemic rickets.

Few studies describe karyotypic abnormalities in simple bone cysts. We report the results of cytogenetic analysis of a case of simple bone cyst of the distal humerus in a patient with hypophosphatemic rickets with a t(7;12)(q21;q24.3) as the sole abnormality. To our knowledge, this is the third report of a cytogenetically characterized tumor of this type.

Dificuldades diagnósticas no osteoma osteoide do cotovelo: estudo clínico, radiológico e histopatológico / Diagnostic difficulties in osteoid osteoma of the elbow: clinical, radiological and histopathological study

OBJETIVO: Descrever os aspectos clínicos e de imagem que podem auxiliar no diagnóstico correto do osteoma osteoide no cotovelo. MATERIAIS E MÉTODOS: Realizado estudo retrospectivo de sete pacientes com diagnóstico de osteoma osteoide no cotovelo confirmado histologicamente por biópsia óssea. Eles tiveram seus prontuários médicos e exames de imagem revisados. RESULTADOS: Do total de 142 pacientes identificados em nossos arquivos, 4,9 por cento apresentavam a lesão no cotovelo, com predomínio no sexo masculino (2,5:1) e idade média de 25 anos. Dor e limitação de movimento foram os sintomas mais comuns. Cinco pacientes (71,4 por cento) receberam outro diagnóstico clínico prévio. A duração média dos sintomas foi de 21 meses. As radiografias não demonstraram o nidus em 42,8 por cento dos casos. A tomografia computadorizada e a ressonância magnética mostraram claramente o nidus. Derrame articular foi um achado constante. O aspecto histológico observado foi o usual. A ressecção cirúrgica promoveu alívio dos sintomas e/ou melhora funcional em todos os casos. CONCLUSÃO: É importante considerar a possibilidade de osteoma osteoide em paciente adulto jovem com dor, limitação do movimento e sinais de sinovite no cotovelo, refratária ao tratamento conservador. Esclerose óssea, espessamento cortical e/ou reação periosteal detectados na radiografia permitem direcionar a tomografia computadorizada para a visualização precisa do nidus.

OBJECTIVE: To describe the clinical and imaging findings that may aid in correctly diagnosing osteoid osteoma of the elbow. MATERIALS AND METHODS: The authors have retrospectively evaluated seven patients diagnosed with osteoid osteoma of the elbow histologically confirmed by bone biopsy. The patients' medical records and imaging studies were reviewed. RESULTS: Among the 142 patients with osteoid osteoma identified in the archives of the institutions, 4.9 percent had the lesion in the elbow, predominantly in men (2.5:1), with a mean age of 25 years. Pain and limitation of movement were the most common symptoms. Five of the patients (71.4 percent) had previously received a different clinical diagnosis. The mean duration of symptoms was 21 months. Radiography did not demonstrate the nidus in 42.8 percent of cases. Computed tomography and magnetic resonance imaging clearly demonstrated the nidus. Joint effusion was a constant finding. The histological findings corresponded to the ones usually observed in such cases. Surgical resection has brought relief of symptoms and/or functional improvement in all of the cases. CONCLUSION: It is important to consider the possibility of osteoid osteoma in young adult patients with pain, limitation of movement and signs of synovitis in the elbow refractory to conservative treatment. The detection of bone sclerosis, cortical thickening and/or periosteal reaction at radiography allows directing computed tomography towards the accurate identification of the nidus.

Hematoma intradiploico: tratamento cirúrgico e relato de caso / Intradiploic hematoma: surgical treatment and case report

O hematoma intradiploico é uma lesão rara do crânio. Foi descrita inicialmente em 1934 e até hoje a sua patogênese não é conhecida. Trata-se de uma lesão rara e secundária a um processo reativo benigno após traumas cranianos leves ou coagulopatias. Paciente de 42 anos apresentava quadro progressivo de perda da marcha e alteração visual. Foi identificada massa na região occipital do paciente, de caráter progressivo. Os estudos radiológicos demonstravam lesão de aspecto heterogêneo, erosiva da calota craniana e com expansão intracraniana. Realizou angiografia digital que demonstrou trombose de seio sagital superior. Foi submetido à biópsia seguida de ressecção da lesão associada à cranioplastia. Houve melhora do padrão visual e do desempenho de marcha do paciente, em relação ao pré-operatório. Os autores relatam um caso raro de hematoma intradiploico, analisaram os diagnósticos diferenciais e discutem as opções cirúrgicas dessa rara doença.

Intradiploic hematoma: surgical treatment and case reportIntradiploic hematoma is a very rare lesion of the skull. It was first described in 1934 and until now his pathogenesis still unclear. It is a rare and benign reactive process that occurs after minor head trauma. This 42-year-old man presented with difficult to walk and visual loss. It was observed one growing mass at occipital bone. On computadorized tomography and magnetic resonance image one destructive lesion, heterogeneous and expansion. One angiographic study was performed and showed thrombosis of the superior sagital sinus. The patient was submitted to a biopsy and after the hematoma was radically resected with cranioplasty. The improved his walk condition and visual capacities. The authors reported one case of intradiploic hematoma, differential diagnosis were analyzed and discussed about the surgical options of this rare disease.

Cytogenetic findings in 14 benign cartilaginous neoplasms.

Benign cartilaginous tumors represent a spectrum of neoplastic processes with variable clinical and pathologic presentations. These tumors are histologically characterized by the presence of chondrocytes surrounded by a cartilaginous matrix. Few studies describe karyotypic abnormalities in these benign lesions. We report a series of 14 chondromas from a single institution. Conventional cytogenetics was performed on short term cultures from all cases. Clonal chromosome aberrations were found in nine tumors. One soft tissue chondroma contained three clones with t(6;12)(q12;p11.2), t(3;7)(q13;p12), and der(2)t(2;18)(p11.2;q11.2). Three periosteal chondromas displayed random structural aberrations of chromosomes 2, 3, 6, 7, and 11 and loss of chromosome 13. Among the enchondromas, three tumors displayed chromosome losses, one contained a complex translocation involving chromosomes 12, 15, and 21 as well as an inv(2)(p21q31),t(12;15;21)(q13;q14;q22) and a separate enchondroma showed a translocation involving chromosomes 12 and 22. Our data suggest that considerable cytogenetic heterogeneity exists among benign chondromatous tumors.

RANK signalling in bone lesions with osteoclast-like giant cells.

AIMS: The interactions between the receptor activator of NF-κB (RANK), its ligand (RANKL), and the decoy receptor for RANKL, osteoprotegerin (OPG), play a pivotal role in promoting osteoclast differentiation and activation leading to bone resorption. Giant cell tumours, chondroblastomas, and aneurysmal bone cysts harbour osteolytic lesions containing osteoclast-like giant cells. We investigated the characteristics of the RANKL signalling pathway in each of these bone lesions. METHODS: We evaluated 44 cases of giant cell tumour, 12 cases of chondroblastoma, six cases of aneurysmal bone cyst, and five cases of metastatic giant cell tumour (including paired primary giant cell tumours). We assessed RANK, RANKL, and OPG expression in chondroblastomas, giant cell tumours, and aneurysmal bone cysts using immunohistochemical methods. RESULTS: Our findings revealed that RANK, RANKL, and OPG expression differed significantly among disease types. Giant cells of chondroblastomas showed significantly higher RANK expression than the giant cells of giant cell tumours and aneurysmal bone cysts; similarly, stromal cells of chondroblastomas showed significantly higher OPG expression than the stromal cells of giant cell tumours and aneurysmal bone cysts. Furthermore, giant cells of giant cell tumours expressed significantly more RANK than the giant cells of aneurysmal bone cysts. CONCLUSIONS: The expression of RANK, RANKL, and OPG in osteoclast-like giant cells differs significantly by disease; OPG expression differs significantly between giant cell tumours and chondroblastomas.

Chronic diploic hematoma mimicking malignancy on imaging.

We present a case of an expansile diploic lesion involving the parietal bones in a 45-year-old man. Computed tomography, magnetic resonance imaging, and digital subtraction angiography were performed. The imaging findings strongly suggested the diagnosis of a malignant neoplasm. Nonetheless, histology revealed a chronic diploic hematoma.

Transfusäo autóloga usando os métodos de coleta pré-operatória e recuperaçäo intra-operatória em cirurgias ortopédicas eletivas / Autologous transfusion using preoperative and intraoperative recovering collet method in elective orthopoedic oerations

Os dados obtidos durante 14 meses com o Programa de Autotransfusäo (PAT), do Hospital do Aparelho Locomotor SARAH-BSB, foram coligidos e analisados. O PAT foi implementado para minimizar e até mesmo eliminar riscos das transfusöes homólogas, aumentando a segurança, a eficácia e melhorando a relaçäo custo/benefício dos procedimentos. Buscou-se também diminuir a demanda de sangue homólogo compatível para aqueles pacientes cujo grupo sanguíneo é difícil de ser encontrado. A transfusäo autóloga elimina os riscos da aquisiçäo de doenças transmitidas pelo sangue de doadores infectados, impede a aloimunizaçäo, as reaçöes alérgicas e a doença imune da reaçäo do hospedeiro ao enxerto. Para o Serviço de Hemoterapia, ela atende a demanda por sangue de tipos raros e permite um aumento dos estoques. Como a autotransfusäo é um procedimento invasivo, o paciente-doador pode apresentar reaçöes, em sua maioria leves, desencadeadas principalmente por reflexo "vaso-vagal". Após preencherem as condiçöes de admissäo ao PAT, os pacientes ou os seus responsáveis, quando menores de idade, eram informados sobre o mesmo e, concordando, assinavam uma declaraçäo de anuência. Os métodos utilizados para a realizaçäo das transfusöes autólogas foram: a) coleta pré-operatória; b) recuperaçäo intra-operatória de lavado de hemácias ("Cell Saver")...