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Introducción El sarcoma de Ewing es el segundo tumor óseo más frecuente de la infancia y la adolescencia, aunque también puede presentarse en partes blandas. Es una neoplasia agresiva con mejoría de la supervivencia gracias a los avances médicos, alcanzando supervivencia en un 70% de los casos, sin embargo, una presentación atípica es relacionado con un mal pronóstico. Objetivo Realizar el reporte de un caso con presentación atípica en una adolescente con características clínicas y radiológicas de metástasis esquelética de inicio rápido (dentro de las 4 semanas posteriores al diagnóstico) y revisar la literatura actual de esta patología. Caso clínico Se trata de clínico de una adolescente de 14 años sin antecedentes patológicos de importancia con sarcoma de Ewing, que debuta con lesión en área frontal de rápida evolución, siendo una presentación atípica, lo cual se relaciona con disminución en la supervivencia. Conclusiones El sarcoma de Ewing es una neoplasia maligna agresiva que afecta principalmente al sistema esquelético en niños y adultos jóvenes, son varios los factores relacionados con el manejo y pronóstico de estos pacientes. Una presentación inusual se relaciona con mal pronóstico.

Introduction Ewing's sarcoma is the second most common bone tumor of childhood and adolescence, although it can also occur in soft tissues. It is an aggressive neoplasm with improved survival thanks to medical advances, reaching survival in 70% of cases; however, an atypical presentation is related to a poor prognosis. Objective To carry out a case report with an atypical presentation in an adolescent with clinical and radiological characteristics of rapid-onset skeletal metastases (within 4 weeks after diagnosis) and to review the current literature on this pathology. Clinical case This is a case of a 14-year-old adolescent with no significant pathological history with Ewing's sarcoma, who debuted with a rapidly evolving lesion in the frontal area, being an atypical presentation, which is related to decreased survival. Conclusions Ewing's sarcoma is an aggressive malignant neoplasm that mainly affects the skeletal system in children and young adults; there are several factors related to the management and prognosis of these patients. An unusual presentation is associated with a poor prognosis.

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INTRODUCCIÓN: El osteosarcoma (OS) es el tumor óseo primario maligno más frecuente. En 2014 se incorporó en Chile dentro del plan de garantías explícitas en salud (GES), ley que garantiza el tratamiento desde la sospecha hasta su tratamiento y rehabilitación. OBJETIVOS: Describir las características de la población mayor de 15 años, con diagnóstico histopatológico de OS, definir su sobrevida, complicaciones e identificar variables que afectan estos resultados. MATERIAL Y MÉTODOS: Estudio retrospectivo, se incluyó a todos los pacientes con diagnóstico de OS, con confirmación histológica, desde 2014 a 2020. Datos demográficos, sitio anatómico, hallazgos histopatológicos, estadio de ingreso, presencia de metástasis, tratamiento, complicaciones y sobrevida fueron registrados. Se realizó un estudio multivariante para determinar factores pronósticos. RESULTADOS: 133 pacientes fueron incluidos. 58,8% hombres, la edad promedio fue 31 años y la localización más frecuente fue fémur distal (34,9%). El 56,4% de los pacientes ingresó en estadio Enneking IIB, 36,4% presentó metástasis al ingreso. Un 14,3% presentó complicaciones, siendo la más frecuente la infección periprotésica (6 casos). El 16% evolucionó con recidiva local. El modelo multivariante mostró que la edad y presencia de metástasis al ingreso constituyen variables pronósticas independientes, con un cociente de riesgo de 1,017 para edad (p = 0,016) y de 3,13 para presencia de metástasis (p = 0,0000). En el análisis de subgrupos, los pacientes sin metástasis al diagnóstico presentaron sobrevida a 5 años de 54% versus 11% para el grupo con metástasis; al ajustar por edad, la sobrevida a 5 años para el grupo sin metástasis y con metástasis fue de 73% y 22% respectivamente. CONCLUSIÓN: Este es el primer estudio de descripción demográfica de pacientes con OS que se realiza en nuestro país. Los resultados son similares a lo reportado por la literatura internacional, destacando en nuestra serie la edad de presentación y presencia de metástasis al ingreso como factores que afectan el pronóstico de una manera significativa. Al ajustar por edad, los porcentajes de sobrevida son equiparables con lo reportado en otros centros internacionales especializados en sarcomas.

BACKGROUND: Osteosarcoma (OS) is the most frequent malignant primary bone tumor. The explicit health guarantee (GES) plan in Chile, a law that guarantees diagnosis, treatment, and rehabilitation, incorporated OS in 2014. OBJETIVES: To describe the characteristics of the population over 15 years, with a histopathological diagnosis of OS, to define survival rate and complications, and to identify variables that affect these outcomes. METHODS: A retrospective study from 2014 to 2020, including all patients affiliated with the public health system diagnosed with OS, with histological confirmation. From clinical records, we extracted demographic data, anatomical OS location, histopathological findings, admission stage, presence of metastases, treatment, complications, and survival. We determined prognostic factors by multivariate analysis. Results: 133 patients, 58.8% men, the average age was 31 years, and the most frequent location was the distal femur (34.9%). 56.4% of the patients were admitted in Enneking stage IIB, and 36.4% presented metastasis at admission. 14.3% presented complications, the most frequent periprosthetic infection (6 cases). 16% of patients evolved with local recurrence. The multivariate model showed that age and metastases at admission constitute independent prognostic variables, with a hazard ratio of 1.017 for age (p = 0.016) and 3.13 for metastases (p = 0.0000). In the subgroup analysis, patients without metastases at diagnosis had a 5-year survival of 54% versus 11% for the group with metastases. Adjusting for age, the 5-year survival for the non-metastatic and metastatic groups was 73% and 22%, respectively. CONCLUSION: This is our country's first demographic description study of patients with OS. In our series, the age of presentation and the presence of metastases at admission were factors that significantly affect prognosis. When adjusting for age, the survival percentages are comparable to those reported in other international centers specialized in sarcomas.

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Objective: To investigate the distribution and characteristics of gene mutations in osteosarcoma, and to analyze the frequency and types of detectable mutations, and to identify potential targets for individualized treatment of osteosarcoma. Methods: The fresh tissue or paraffin-embedded tissue samples of 64 cases of osteosarcoma that were surgically resected or biopsied and then subject to next generation sequencing, were collected from Beijing Jishuitan Hospital, China from November 2018 to December 2021. The tumor DNA was extracted to detect the somatic and germline mutations using targeted sequencing technology. Results: Among the 64 patients, 41 were males and 23 were females. The patient age ranged from 6 to 65 years with a median age of 17 years, including 36 children (under 18 years old) and 28 adults. There were 52 cases of conventional osteosarcoma, 3 cases of telangiectatic osteosarcoma, 7 cases of secondary osteosarcoma, and 2 cases of parosteosarcoma. The detection rate of gene mutations was overall 84.4% (54/64). There were 324 variations in 180 mutated genes, including 125 genes with copy number variations, 109 single nucleotide variants, 83 insertions or deletions, and 7 gene fusions. The most common mutated genes were TP53, VEGFA, CCND3, ATRX, MYC, RB1, PTEN, GLI1, CDK4 and PTPRD. Among them, TP53 had the highest mutation rate (21/64, 32.8%), single nucleotide variant was the main mutation type (14/23, 60.9%), and 2 cases carried the TP53 germline mutation. VEGFA and CCND3 showed copy number amplification simultaneously in 7 cases. Conclusions: The high-frequency mutation of TP53 suggests that it plays an important role in the pathogenesis and development of osteosarcoma. VEGFA, CCND3 and ATRX are mutated genes in osteosarcoma and worthy of further studies. Combination of pathologic diagnosis and next generation sequencing with clinical practice can guide individualized treatment for patients with refractory, recurrent and metastatic osteosarcoma.

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OBJECTIVE@#To investigate the prognostic value and mechanism of long non-coding RNA DLEU1(LncRNA DLEU1) in osteosarcoma.@*METHODS@#The tissue samples and clinical data of 86 patients with osteosarcoma treated by orthopaedic surgery in our hospital from January 2012 to December 2014 were retrospectively collected. The expression of LncRNA DLEU1 in pathological tissues was detected by qRT-PCR, then the patients were divided into high and low expression of LncRNA DLEU1 groups. Osteosarcoma cell line HOS was divided into two groups, down-regulated expression group (si-DLEU1 group) and negative control group (si-NC group). LncRNA DLEU1 siRNA and negative control sequence were transfected by Lipofectamine 3000. Chi-square test was used to analyze the relationship between the expression of LncRNA DLEU1 and the clinicopathological factors of osteosarcoma. Kaplan-Meier method was used to compare the difference of the overall survival rate of osteosarcoma patients between the high and low expression groups of LncRNA DLEU1. The risk factors affecting the overall survival rate of osteosarcoma were analyzed by single factor and multifactor analysis. The number of invasive cells in the two groups was determined and compared by Transwell assay.@*RESULTS@#The expression of LncRNA DLEU1 in osteosarcoma tissue was higher than that in adjacent tissues (P<0.001). The expression of LncRNA DLEU1 in human osteosarcoma cell lines (MG-63, U-2 OS, and HOS) was significantly higher than that in human osteoblast line hFOB 1.19 (P<0.001). The expression of LncRNA DLEU1 was significantly correlated with Enneking stage (P<0.001), distant metastasis (P=0.016), and histological grade (P=0.028). The 1-year overall survival rate of the LncRNA DLEU1 high expression group was significantly higher than that of the low expression group (90.7% vs 60.5%, P<0.001). The 5-year overall survival rate of the LncRNA DLEU1 high expression group was significantly higher than that of the low expression group (32.6% vs 11.6%, P<0.001). Univariate analysis showed that Enneking stage (P<0.001), tumor size (P=0.043), distant metastasis (P<0.001), histological grade (P<0.001), and expression of LncRNA DLEU1 (P<0.001) were risk factors for overall survival of osteosarcoma patients. Multivariate analysis showed that high expression of LncRNA DLEU1 [HR=1.948, 95% CI(1.141, 3.641), P=0.012] and distant metastasis[HR=4.108, 95% CI(2.169, 7.780), P<0.001] were independent risk factors for overall survival of osteosarcoma patients. The number of invasive cells in si-DLEU1 group was significantly lesser than that in si-NC group(139±13 vs 357±31, P<0.001).@*CONCLUSION@#High expression of LncRNA DLEU1 is a molecular marker affecting the prognosis of osteosarcoma patients. Downregulation of LncRNA DLEU1 can inhibit the invasion of osteosarcoma cells.

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Objective: To investigate the clinical, imaging, histological, and molecular features and the differential diagnosis of radiation-associated sarcomas of bone and soft tissue. Methods: Forty-six cases of radiation-associated sarcomas of the bone and soft tissue in Beijing Jishuitan Hospital from January 2010 to January 2022 were retrospectively analyzed; and the imaging, histological features and immunophenotype were examined. Results: There were 33 females and 13 males, aged from 18 to 74 years, with a mean of 52 years. The most common site of radiation-associated sarcomas were the limbs and spine (15 cases), followed by the chest (9 cases). The primary diseases included epithelial tumors (15 breast cancer, 6 cervical cancer, and 5 bowel cancer), hematolymphoid tumors, bone and soft tissue tumors and infectious lesions. The latent period of radiation-associated sarcomas ranged from 2-22 years, with an average of 11.6 years. Histopathologically, the morphology was divergent from the primary tumor. The most common malignant tumor type was undifferentiated sarcoma (22 cases), followed by osteosarcoma (16 cases). The immunophenotype of radiation-related sarcoma was almost the same as the corresponding soft tissue sarcoma. Conclusions: Radiation-induced sarcoma has a wide range of primary tumor types and its imaging, morphology and immunohistochemical features are similar to those of the primary sarcoma of bone and soft tissue. Clinical correlation is often recommended for the differential diagnosis.

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El sarcoma de Ewing es una neoplasia de origen más frecuentemente óseo; otras localizaciones son excepcionales. En el caso de las presentaciones primarias intracraneales, resulta imprescindible descartar que se trate de un secundarismo así como también de otros tumores neuroectodérmicos que puedan requerir distintos abordajes diagnósticos y terapéuticos. Se presenta a una paciente de 14 años que consultó por ptosis palpebral de ojo izquierdo asociado a diplopía de 2 meses de evolución; los estudios por imágenes mostraron una lesión tumoral extraaxial situada a nivel de la cisterna interpeduncular. Se realizó la exéresis completa, con diagnóstico anatomopatológico de sarcoma de Ewing de ubicación mesencefálica

Ewing's sarcoma is a malignant neoplasm mainly occurring in the bone, with other locations being exceptional. In the case of primary intracranial presentations, it is essential to rule out metastatic lesions as well as other neuroectodermal tumors that may require different diagnostic and therapeutic approaches. We present a 14-year-old patient who consulted for upper eyelid ptosis of left eye associated with a 2-month history of diplopia, with imaging evidence of extra-axial tumor lesion, located at the level of the interpeduncular cistern. Complete excision was performed, with a pathological diagnosis of Ewing's sarcoma of midbrain location.

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Objective: To screen the different expressed genes between osteosarcoma and normal osteoblasts, and find the key genes for the occurrence and development of osteosarcoma. Methods: The gene expression dataset GSE33382 of normal osteoblasts and osteosarcoma was obtained from Gene Expression Omnibus (GEO) database. The different expressed genes between normal osteoblasts and osteosarcoma were screened by limma package of R language, and the different expressed genes were analyzed by Kyoto encyclopedia of genes and genomes (KEGG) pathway enrichment analysis. The protein interaction network was constructed by the String database, and the network modules in the interaction network were screened by the molecular complex detection (MCODE) plug-in of Cytoscape software. The different expressed genes contained in the first three main modules screened by MCODE were analyzed by gene ontology (GO) using the BiNGO module of Cytoscape software. The MCC algorithm was used to screen the top 10 key genes in the protein interaction network. The gene expression and survival dataset GSE39055 of osteosarcoma was obtained from GEO database, and the survival analysis was performed by Kaplan-Meier method. The data of 48 patients with osteosarcoma treated in the First Affiliated Hospital of Fujian Medical University from January 2005 to December 2015 were selected for verification. The expression of STC2 protein in osteosarcoma was detected by immunohistochemical method, and the survival analysis was carried out combined with the clinical data of the patients. Results: A total of 874 different expressed genes were identified from GSE33382 dataset, including 402 down-regulated genes and 472 up-regulated genes. KEGG enrichment analysis showed that different expressed genes were mainly related to p53 signal pathway, glutathione metabolism, extracellular matrix receptor interaction, cell adhesion molecules, folate tolerance, and cell senescence. The top 10 key genes in the interaction network were GAS6, IL6, RCN1, MXRA8, STC2, EVA1A, PNPLA2, CYR61, SPARCL1 and FSTL3. STC2 was related to the survival rate of patients with osteosarcoma (P<0.05). The results showed that the expression of STC2 protein was related to tumor size and Enneking stage in 48 cases of osteosarcoma. The median survival time of 25 cases with STC2 high expression was 21.4 months, and that of 23 cases with STC2 low expression was 65.4 months. The survival rate of patients with high expression of STC2 was lower than that of patients with low expression of STC2 (P<0.05). Conclusions: Bioinformatics analysis can effectively screen the different expressed genes between osteosarcoma and normal osteoblasts. STC2 is one of the important predictors for the prognosis of osteosarcoma.

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OBJECTIVE@#Osteosarcoma(OS) and Ewing's sarcoma (EWS) are the two most common primary malignant bone tumors in children. The aim of the study was to identify key genes in OS and EWS and investigate their potential pathways.@*METHODS@#Expression profiling (GSE16088 and GSE45544) were obtained from GEO DataSets. Differentially expressed genes were identified using GEO2R and key genes involved in the occurrence of both OS and EWS were selected using venn diagram. Gene ontology and pathway enrichment analyses were performed for the ensembl. Protein-protein interaction (PPI) networks were established by STRING. Further, UCSC was used to predict the transcription factors of the cell division cycke 5-like(CDC5L) gene, and GEPIA was used to analyze the correlation between the transcription factors and the CDC5L gene.@*RESULTS@#The results showed that CDC5L gene was the key gene involved in the pathogenesis of OS and EWS. The gene is mainly involved in mitosis, and is related to RNA metabolism, processing of capped intron-containing pre-mRNA, mRNA and pre-mRNA splicing.@*CONCLUSION@#CDC5L, as a key gene, plays a role in development of OS and EWS, which may be reliable targets for diagnosis and treatment of these primary malignant tumors.

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El leiomiosarcoma (LMS) es un tipo de tumor de células fusiformes de muy baja incidencia, que tiene un comportamiento agresivo, con alta tasa de mortalidad, por lo que el manejo debe ser quirúrgico, con una resección amplia de la lesión. No está claro el papel de la radio ni de la quimioterapia en su manejo. Presentamos a una paciente de 28 años que consultó por dolor de 2 meses en la rodilla derecha. Radiográficamente, se caracterizó como una lesión osteolítica pura en el fémur distal. La resonancia nuclear magnética (RNM) contrastada mostró áreas hipervasculares dentro del tumor. La gammagrafía mostró un marcado aumento en la captación de radiotrazadores. Se tomó una biopsia, con un informe de patología de LMS óseo bien diferenciado. Se trató con 3 ciclos de quimioterapia neoadyuvante preoperatoria con ifosfamida 1.000 mg/m2 en los días 1 a 3, además de doxorrubicina 70 mg/m2 , y resección quirúrgica de la lesión y salvamento de la extremidad con endoprótesis de rodilla. Una vez que se resecó la lesión, la paciente recibió quimioterapia adyuvante con 4 ciclos de gencitabina 1.000 mg/m2 entre los días 1 y 8, y doxetacel 70 mg/m2 el día 1. Durante los dos meses de seguimiento, la paciente presenóa una fractura en el tercio medio de la clavícula, compatible con una lesión patológica en radiografías y tomografía por emisión de positrones (TEP). La biopsia reveló una lesión metastásica de LMS óseo que fue tratada mediante resección quirúrgica de la clavícula. Este es un caso único, dado que, durante el seguimiento, recibió tratamiento adyuvante con quimioterapia y se evaluó con una TEP, con una evolución clínica satisfactoria y sin evidencia de nuevas lesiones

Leiomyosarcoma (LMS) is a type of spindle-cell tumor of very low incidence that tumor has an aggressive behavior, with high mortality rates; therefore, its management must be surgical, with a wide resection of the lesion. The role of radio and chemotherapy in its management is not clear. We present the case of a 28-year-old female patient who consulted for pain lasting 2 months in the right knee. Radiographically, it was characterized as a pure osteolytic lesion in the distal femur. Contrast magnetic resonance imaging (MRI) showed hypervascular areas within the tumor. The scintigraphy showed a marked increase in radiotracer uptake. A biopsy was taken, with a pathology report of well-differentiated osseous LMS. It was treated with 3 cycles of preoperative neoadjuvant chemotherapy with ifosfamide 1,000 mg/m2 in the first 3 days, as well as doxorubicin 70 mg/m2 , and surgical resection of the lesion and limb salvage with knee endoprosthesis. Once the lesion was resected, the patient underwent adjuvant chemotherapy, with 4 cycles of gencitabine 1,000 mg/m2 between days 1 and 8, and doxetacel 70 mg/m2 on day 1. During the 2-month follow-up, the patient presented a fracture in the middle third of the clavicle, which was compatible with a pathological lesion on radiographs and positron-emission tomography (PET) scans. The biopsy showed a metastatic lesion of bone LMS, which was treated by surgical resection of the clavicle. This is a unique case, given that, during the follow-up, the patient underwent adjuvant treatment with chemotherapy, and was evaluated with a PET scan, with a satisfactory clinical evolution and no evidence of new lesions.

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Resumen Los condrosarcomas son cánceres realmente infrecuentes en cabeza y cuello, y más aún en el hueso hioides. Por lo general, son neoplasias que debutan como una masa cervical sin otra sintomatología. Su diagnóstico requiere de estudios de imagen y su tratamiento es fundamentalmente quirúrgico. Comentamos el caso de un paciente de 57 años, desde el diagnóstico de la lesión hasta su tratamiento y seguimiento, y una revisión bibliográfica de esta patología.

Abstract Chondrosarcomas are a rare type of head and neck cancer, especially in the hyoid bone. They usually make their debut through a cervical mass, without other symptoms. The diagnosis requires image studies, and the treatment is fundamentally surgical. We report the case of a 57 years old patient, from the lesion diagnosis, its treatment and follow up, and a bibliographic review of this pathology.

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Primary malignant giant cell tumor (PMGCT) is a diagnosis based on the presence of a high-grade sarcomatous component along with a typical benign giant cell tumor (GCT). We report the first case of PMGCT of the sternum in a 28-year-old male with painless swelling over the manubrium sterni. The differential diagnoses of PMGCT and giant cell-rich osteosarcoma were considered. Surgical resection was performed, and the reconstruction was done with a neosternum using polymethyl methacrylate and prolene mesh. At 30 months follow-up, the patient is disease-free.

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Plasmacytoma is a neoplastic proliferation of monoclonal plasma cells, which can present clinically as solitary bone neoplasm, extramedullary plasmacytoma, and multiple myeloma. The biological behavior of these tumors is variable from periods of clinical latency to rapid growth and progression from localized forms to more disseminated multiple myeloma. We present the case of solitary plasmacytoma of the mandible with rare bilateral involvement in a 65-year-old female patient. This paper highlights the importance of understanding the maxillofacial manifestations of the disease by the dentist for early diagnosis and thus better prognosis.

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Patients with osteosarcoma (OS) usually have poor overall survival because of frequent metastasis. Long non-coding RNAs (lncRNAs) have been reported to be associated with tumorigenesis and metastasis. In this study, we investigated the expression and roles of lncRNA human histocompatibility leukocyte antigen (HLA) complex P5 (HCP5) in OS, aiming to provide a novel molecular mechanism for OS. HCP5 was up-regulated both in OS tissues and cell lines and high expression of HCP5 was associated to low survival in OS patients. Down-regulation of HCP5 inhibited cell proliferation, migration, and invasion, suggesting its carcinogenic role in OS. miR-101 was targeted by HCP5 and its expression was decreased in OS. The inhibitor of miR-101 reversed the impact of HCP5 down-regulation on cell proliferation, apoptosis, and metastasis in OS. Ephrin receptor 7 (EPHA7) was proved to be a target of miR-101 and had ability to recover the effects of miR-101 inhibitor in OS. In conclusion, lncRNA HCP5 knockdown suppressed cell proliferation, migration, and invasion, and induced apoptosis through depleting the expression of EPHA7 by binding to miR-101, providing a potential therapeutic strategy of HCP5 in OS.

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La biopsia de médula ósea (BMO) es un procedimiento invasivo que ha ganado campo en la práctica médica ya que se realiza para el diagnóstico, estadificación y seguimiento de enfermedades hematológicas y no hematológicas, benignas o neoplásicas, entre otros. El objetivo fue establecer el rol de la BMO en las hemopatías en Pediatría en el ION SOLCA Guayaquil- Ecuador. Se utilizó un estudio descriptivo retrospectivo donde se incluyeron a todos los pacientes pediátricos menores de 18 años de edad que se sometieron a BMO, desde Julio de 2014 a Julio de 2017 en el hospital. De las 1511 BMO realizadas en el periodo de estudio, 869 correspondieron a biopsias pediátricas, de las cuales el 57,08% fueron varones. La edad mediana fue 5 (RIC: 3-10) años. El tamaño promedio de la BMO fue de 0,74 (0,1-2,5) cm, con una celularidad media de 20% (4-100%). El motivo de consulta más frecuente fue la fiebre (22,67%). En el hemograma se detectó más frecuentemente bicitopenia (44,65%) y pancitopenia (24,63%). La Leucemia Linfoblástica Aguda (LLA) fue la enfermedad hematológica maligna más comúnmente encontrada (19,59%). Solo un 0,12% correspondió al grupo de Síndromes Mielodisplásicos (SMD), mientras que un 0,23% fueron Neoplasias Mieloproliferativas (NMP). El 26,93% de las biopsias no fueron aptas para el diagnóstico, el 48,45% se encontraron libres de enfermedad de base. La enfermedad oncohematológica pediátrica más frecuente es la LLA, mientras que los SMD y las NMP son infrecuentes. El rol del patólogo y de la BMO es fundamental en el diagnóstico de las enfermedades hematológicas, siempre en integración con la clínica y los exámenes complementarios.

Bone marrow biopsy (BMB) is an invasive procedure that has gained ground in medical practice since it is performed for the diagnosis, staging and monitoring of hematological and non-hematological, benign or neoplastic diseases, among others. This work aims to establish the role of the BMB in hematological diseases in Pediatrics in the ION SOLCA Guayaquil ­ Ecuador. A non-experimental design study, descriptive type was used, that included all pediatric patients under 18 years of age who submitted a BMB, from July 2014 to July 2017 in the hospital. Of the 1511 BMB performed in the study period, 869 corresponded to pediatric biopsies, of which 57.08% belong to male patients. The median age was 5 (interquartile range: 3 - 10) years. The average size of the BMB was 0.74 (0.1 - 2.5) cm, with an average cellularity of 20% (4 - 100%). The most frequent reason for consultation was fever (22.67%). In the complete blood count, bicytopenia (44.65%) and pancytopenia (24.63%) were detected most commonly. Acute Lymphoblastic Leukemia (ALL) was the most frequent malignant hematologic disease (19.59%). Only 0.12% corresponded to the group of Myelodysplastic Syndromes (MDS), while 0.23% were Myeloproliferative Neoplasms (MPN). 26.93% of the biopsies were not apt for diagnosis, 48.45% were free of base disease. The most cfrequent pediatric onco-hematologic disease is ALL, while MDS and MPN are infrequent. The role of the pathologist and the BMP is fundamental in the diagnosis of hematological diseases, always in integration with the clinic and complementary examinations.

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We present the autopsy findings and differential diagnosis in a 42year old male who presented with fever and rapidly progressive respiratory symptoms like breathlessness, nonproductive cough and right sided chest pain. Initial imaging workup done at our hospital revealed a large unilateral tumor with tracheal shift. While being evaluated patient developed facial puffiness, tachypnea suggestive of superior vena cava obstruction. Antemortem biopsy of lung mass was attempted twice and that suggested malignant lesion. Unfortunately, the individual had a rapid downhill course following admission. Post mortem examination was conducted that on opening the thoracic cavity revealed total replacement of right lung tissue by a necrotic growth which was deeply adherent to the rib cage. The contralateral lung as well as all other visceral organs were unremarkable grossly. Histopathology confirmed primary Ewing sarcoma of the lung. We hereby, report a rare case of primary lung Ewing sarcoma diagnosed at autopsy.

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Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by a bulging tumor of the face. Radiologically, the tumor is usually characterized by an expansile lytic bone lesion. The histopathology of the tumor shows a poorly circumscribed hypocellular lesion rich in collagen fibers with interspersed spindle cells having bland nuclear chromatin. Despite the lack of mitoses and nuclear pleomorphism, DF has an aggressive nature, presenting as a destructive growth causing entrapment of neuro-vascular bundles, sinusitis, or trismus. Some cases of DF show mutations in the adenomatous polyposis coli pathway shown by nuclear localization of the ß-catenin protein. Few reports showed an association with tuberous sclerosis, though most of these cases were sporadic. We discuss a rare case of desmoplastic fibroma involving the mandible, and a review of the literature of the DF cases involving the gnathic bones.

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Abstract We report the case of an 8-year-old child with subungual exostosis, whose diagnosis was suspected on the basis of dermoscopic findings and subsequently confirmed by X-ray and histopathology.

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RESUMO Objetivo: determinar a expressão de neurotrofinas e seus receptores tirosina quinases em pacientes com osteossarcoma (OS) e sua correlação com desfechos clínicos. Métodos: biópsias de tumores primários de pacientes com OS tratados em uma única instituição, consecutivamente, entre 2002 e 2015, foram analisados através de imuno-histoquímica para expressão de receptores de tirosina quinase A e B (TrKA e TrKB), fator de crescimento neural (NGF) e fator neurotrófico derivado do cérebro (BDNF). De forma independente, dois patologistas classificaram os marcadores de imuno-histoquímica como negativos (negativos e focais fracos) ou positivos (moderado focal/difuso ou forte focal/difuso). Resultados: foram analisados dados de 19 pacientes (10 do sexo feminino e 9 do masculino) com mediana de idade de 12 anos (5 a 17,3 anos). Dos tumores, 83,3% estavam localizados em membros inferiores e 63,2% dos pacientes eram metastáticos ao diagnóstico. A sobrevida global em cinco anos foi de 55,3%. BDNF foi positivo em 16 pacientes (84%) e NGF em 14 pacientes (73%). TrKA e TrKB apresentaram coloração positiva em quatro (21,1%) e oito (42,1%) pacientes, respectivamente. A análise de sobrevida não demonstrou diferença significativa entre receptores TrK e neurotrofinas. Conclusão: amostras de OS primário expressam neurotrofinas e receptores TrK através de imuno-histoquímica. Estudos futuros podem auxiliar na identificação do papel das mesmas na patogênese do OS e determinar se há possível correlação prognóstica.

ABSTRACT Objective: to determine the expression of neurotrophins and their tyrosine-kinase receptors in patients with osteosarcoma (OS) and their correlation with clinical outcomes. Methods: we applied immunohistochemistry to biopsy specimens of patients consecutively treated for primary OS at a single institution between 2002 and 2015, analyzing them for expression receptors of tyrosine kinase A and B (TrKA and TrKB), neural growth factor (NGF) and brain derived neurotrophic factor (BDNF). Independently, two pathologists classified the immunohistochemical markers as negative (negative or weak focal) or positive (moderate focal/diffuse or strong focal/diffuse). Results: we analyzed data from 19 patients (10 females and 9 males), with median age of 12 years (5 to 17.3). Tumors' location were 83.3% in the lower limbs, and 63.2% of patients had metastases at diagnosis. Five-year overall survival was 55.3%. BDNF was positive in 16 patients (84%) and NGF in 14 (73%). TrKA and TrKB presented positive staining in four (21,1%) and eight (42,1%) patients, respectively. Survival analysis showed no significant difference between TrK receptors and neurotrophins. Conclusion: primary OS samples express neurotrophins and TrK receptors by immunohistochemistry. Future studies should explore their role in OS pathogenesis and determine their prognostic significance in larger cohorts.

ABSTRACT

OBJECTIVES: Osteosarcoma of the jaw (OSAJ) is fundamentally different in clinical practice from its peripheral counterparts. Studies are difficult to conduct due to low incidence rates. The primary aim of this study was to provide for the first time a comprehensive retrospective analysis of the treatment concepts and outcome data of OSAJ patients treated at the University Hospital Vienna and to compare these with two recently published studies on OSAJ. The clinical study was accompanied by a biomarker study investigating the prognostic relevance of melanoma-associated antigen-A (MAGE-A) in OSAJ specimens. METHOD: Eighteen patients were included, and their outcomes were compared to published data. Immunohistochemistry was performed with mouse monoclonal antibodies against MAGE-A. Survival rates were estimated by the Kaplan-Meyer method. The log-rank test was used to analyze potential prognostic parameters. Fisher's exact test was performed to define the significant differences between the survival rates of the current study and the DOESAK registry. RESULTS: Disease-specific survival was 93.8% after five and 56.3% after ten years. The development of metastases (p=0.033) or relapse (p=0.037) was associated with worsened outcomes in our group as well as in the comparative group. Despite the different treatment concepts of the study groups, survival rates were comparable. MAGE-A failed to show prognostic relevance for OSAJ patients. CONCLUSIONS: Uncertainties about the optimal treatment strategies of OSAJ patients will currently remain. Thus, prospective studies of OSAJ are needed but are only feasible in a multicenter study setting, conducted over a prolonged time period.