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We report the case of a 75-year-old male who underwent lung lobectomy for presumed lung cancer. Thereafter, he presented with a painful mass between the third and fourth metatarsal heads in the foot that was assumed to be Morton's neuroma. After extensive oncologic evaluation, the foot mass was diagnosed as a synovial sarcoma. In retrospect, his lung lesion was understood to be metastatic disease.
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Pé , Sarcoma Sinovial/diagnóstico , Idoso , Biópsia , Diagnóstico Diferencial , Evolução Fatal , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%-1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity.
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Aspergillus osteomyelitis is an extremely rare manifestation of invasive aspergillosis. Generally, patients in states of significant immune deficiency are very susceptible to invasive aspergillosis. We report a case of Aspergillus osteomyelitis of the proximal humerus in an immunocompetent patient that required aggressive oral antifungal therapy, surgical debridement, and placement of an antifungal-impregnated cement spacer. Subsequently, her shoulder was reconstructed using a reverse total shoulder prosthesis The clinical course, radiographic findings, histology, and management rationale are presented.
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Aspergilose/diagnóstico por imagem , Aspergilose/terapia , Úmero/diagnóstico por imagem , Osteomielite/diagnóstico por imagem , Osteomielite/terapia , Procedimentos de Cirurgia Plástica , Idoso , Antifúngicos/uso terapêutico , Terapia Combinada , Desbridamento , Feminino , Humanos , Radiografia , Resultado do TratamentoRESUMO
Solitary fibrous tumors are rare mesenchymal tumors originally described in the pleura that infrequently metastasize. We present a 71-year-old male complaining of hemoptysis and a mass with the characteristic appearance of a hemangioma in the floor of the mouth. The mass had nonspecific imaging features on CT and MRI. After unsuccessful fine needle aspiration, surgical excision and biopsy with histological analysis revealed a solitary fibrous tumor, high risk variant. CT Imaging and lymph node biopsy showed gross total resection and no metastatic adenopathy. Given the high risk for malignancy, the patient received adjuvant radiation without subsequent clinical or imaging signs of recurrence. This case report demonstrates the presentation of this rare entity that can often be confused with other tumors in this region, given its nonspecific clinical and imaging findings.
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The authors describe a case of an isolated intra-articular pseudorheumatoid nodule of the knee in an 18-year-old male patient without a diagnosis of rheumatoid arthritis. The patient initially presented with a 3 year history of anterior knee pain and was found to have a 2.8 × 2.1 cm lobulated soft-tissue mass. Histologic findings showed fibrinoid necrosis and chronic inflammatory changes that were consistent with those of a pseudorheumatoid or rheumatoid nodule, and surgical excision of the nodule was curative. A review of the literature revealed no prior cases of an intra-articular pseudorheumatoid nodule or rheumatoid nodule in a patient without clinical or serologic evidence of rheumatoid arthritis.
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Artrite Reumatoide/diagnóstico por imagem , Articulação do Joelho/diagnóstico por imagem , Nódulo Reumatoide/diagnóstico por imagem , Adolescente , Artrite Reumatoide/patologia , Humanos , Articulação do Joelho/patologia , Imageamento por Ressonância Magnética , Masculino , Radiografia , Nódulo Reumatoide/patologiaRESUMO
Infantile myofibroma is the most common fibrous tumor of infancy, typically affecting neonates and children under 2 years of age. Though the multicentric variant portends a grave prognosis, solitary lesions have an excellent prognosis and frequently undergo spontaneous regression. Surgical excision of solitary lesions is usually curative. In this report, we describe a pediatric patient with an unusually aggressive solitary myofibroma of the axilla who ultimately required a forequarter amputation as a lifesaving measure following multiple tumor recurrences and progressive tumor growth. The clinical course, radiographic findings, histology, and management rationale are presented.
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Neoplasias Musculares/diagnóstico , Miofibroma/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/patologia , Adolescente , Axila , Humanos , Masculino , RadiografiaRESUMO
Follicular dendritic cell sarcoma (FDCS) is a rare malignant neoplasm, which primarily arises in lymph nodes with occasional cases occurring in extranodal locations. The diagnosis is often challenging particularly on cytology fine needle aspiration due to overlapping morphologic and immunohistochemical features. We present a case of FDCS diagnosed in an otherwise asymptomatic 33-year old male. The aim of our case report is to highlight the key cytomorphologic features and discuss various differential diagnoses of this unusual entity.
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Sarcoma de Células Dendríticas Foliculares/diagnóstico , Sarcoma de Células Dendríticas Foliculares/patologia , Adulto , Biópsia por Agulha Fina/métodos , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica/métodos , MasculinoRESUMO
Patients with localized urethral melanoma have a high risk of recurrence and poor disease-specific survival. Multi-disciplinary approach including surgery, radiation therapy, and chemotherapy/immunotherapy is needed to maximize survival. Current research efforts include investigation of novel tyrosine kinases as well as the combination of targeted therapies with immunotherapies in this population. Combinations may provide a synergistic effect to overcome various obstacles to disease response.
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Melanoma , Neoplasias Uretrais , Idoso , Evolução Fatal , Feminino , Humanos , Melanoma/diagnóstico , Melanoma/terapia , Neoplasias Uretrais/diagnóstico , Neoplasias Uretrais/terapiaRESUMO
Osteosarcoma is a cancer whose cell of origin lies in the differentiation pathway between the mesenchymal stem cell (MSC) and the osteoblast (OB). In this study, we sought to determine if surface markers associated with osteoblastic differentiation are involved in osteosarcoma progression. cDNA expression arrays were performed on MSCs and osteoblasts to identify differentially expressed genes. The specificity of candidate genes for osteoblast differentiation was assessed through time course experiments in differentiation media with confirmation utilizing CD49b transfected MSCs. In addition, CD49b was transfected into osteosarcoma cell lines to determine its impact on cell proliferation, motility, and invasion. Finally, the expression of CD49b was assessed in osteosarcoma patient samples and correlated with survival outcomes. cDNA expression arrays identified a list of genes differentially expressed between MSCs and osteoblasts with a subset of those genes encoding cell surface proteins. Three genes were selected for further analysis, based on qPCR validation, but only CD49b was selective for osteoblastic differentiation. Forced expression of CD49b in MSCs led to delayed osteoblastic differentiation. Down-regulation of CD49b expression in osteosarcoma cell lines resulted in inhibition of their migration and invasion capacity. CD49b expression in osteosarcoma patients was associated with presence of metastases and inferior 5 year overall survival (31.4% vs. 57.4%, p=0.03). Surface proteins involved in osteosarcoma cell differentiation, such as CD49b, have the potential to serve as prognostic biomarkers, and may lead to the identification of new therapeutic targets.
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Vascular lesions (VLs) of the breast present a diagnostic challenge on breast core biopsy (BCBx). We report on 27 VLs presenting on BCBx. The mean patient age was 60 years, and mean size was 7.5 mm (range, 1.6 to 16 mm). Presentation included palpable mass in 6 (22%), incidental in 6 (22%), and an imaging abnormality in 15 (56%) cases. Imaging impression included hematoma (24%), lymph node (10%), fat necrosis (10%), tortuous vessel (5%), and not provided in 52%. The lesions were classified on the basis of BCBx or BCBx and excision (available in 16 pts) as follows: 1 low-grade angiosarcoma, 8 angiolipomas, 6 capillary hemangiomas, 4 cavernous hemangiomas, 2 hemangiomas (not otherwise specified), 1 papillary endothelial hyperplasia, and 5 perilobular hemangiomas. The angiosarcoma was 9 mm, detected incidentally by magnetic resonance imaging, and showed dissection of stromal collagen, infiltration of glands, high cellularity, moderate cytologic atypia, scant mitotic activity, and Ki-67 reactivity of 10%. Among the 26 benign VLs, worrisome histologic features were noted in 14 on BCBx, including anastomosing vascular channels in 9, moderate cytologic atypia in 4, high cellularity in 2, Ki-67>10% in 2, mitotic activity in 1, and infiltration of glands in 1. Of the 12 VLs without worrisome features, the lesion extended to edge of core in 8, precluding complete evaluation. BCBx of VLs presents diagnostic challenges due to overlapping clinicopathologic and radiologic features with low-grade angiosarcoma. If completeness of removal is documented on BCBx, and cytoarchitectural changes are not worrisome, follow-up could be considered rather than excision. However, only 4 of these cases fulfilled those criteria.
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Neoplasias da Mama/patologia , Mama/patologia , Neoplasias de Tecido Vascular/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia com Agulha de Grande Calibre , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Neoplasias da Mama Masculina/diagnóstico , Neoplasias da Mama Masculina/patologia , Neoplasias da Mama Masculina/cirurgia , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Masculino , Mastectomia , Pessoa de Meia-Idade , Neoplasias de Tecido Vascular/diagnóstico , Neoplasias de Tecido Vascular/cirurgia , Resultado do TratamentoRESUMO
PURPOSE: It is increasingly relevant to better define what constitutes an adequate surgical margin in an effort to improve reconstructive longevity and functional outcomes following osteosarcoma surgery. In addition, nonunion remains a challenging problem in some patients following allograft reconstruction. Bone morphogenetic protein-2 (BMP-2) could enhance osseous union, but has been historically avoided due to concerns that it may promote tumor recurrence. EXPERIMENTAL DESIGN: An orthotopic xenograft murine model was utilized to describe the natural temporal course of osteosarcoma growth. Tumors were treated either with surgery alone, surgery and single-agent chemotherapy, or surgery and dual-agent chemotherapy to assess the relationship between surgical margin and local recurrence. The effect of BMP-2 on local recurrence was similarly assessed. RESULTS: Osteosarcoma tumor growth was categorized into reproducible phases. Margins greater than 997 µm resulted in local control following surgery alone. Margins greater than 36 µm resulted in local control following surgery and single-agent chemotherapy. Margins greater than 12 µm resulted in local control following surgery and dual-agent chemotherapy. The application of exogenous BMP-2 does not confer an increased risk of local recurrence. CONCLUSIONS: This model reliably reproduces the clinical, radiographic, and surgical conditions encountered in human osteosarcoma. It successfully incorporates relevant chemotherapy, further paralleling the human experience. Surgical margins required to achieve local control in osteosarcoma can be reduced using single-agent chemotherapy and further decreased using dual-agent chemotherapy. The application of BMP-2 does not increase local recurrence in this model.
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Protocolos de Quimioterapia Combinada Antineoplásica/farmacologia , Proteína Morfogenética Óssea 2/farmacologia , Neoplasias Ósseas/patologia , Recidiva Local de Neoplasia/prevenção & controle , Osteossarcoma/patologia , Animais , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Proteína Morfogenética Óssea 2/fisiologia , Neoplasias Ósseas/terapia , Linhagem Celular Tumoral , Feminino , Humanos , Camundongos SCID , Recidiva Local de Neoplasia/diagnóstico , Osteossarcoma/terapia , Curva ROC , Ensaios Antitumorais Modelo de XenoenxertoRESUMO
The diagnosis of follicular dendritic cell (FDC) sarcoma can be challenging because of its morphologic overlaps with many other spindle cell neoplasms and, therefore, new phenotypic markers will be helpful in its differential diagnosis. Podoplanin is a mucin-type transmembrane glycoprotein that has recently been detected in reactive FDCs. In this study, we investigated the expression patterns of podoplanin using a new mouse monoclonal antibody D2-40, and compared them with CD21, a well-established FDC marker, in a comprehensive panel of cases. The panel included 4 FDC sarcomas, 38 spindle cell neoplasms of other types, 25 reactive lymphoid hyperplasia, and 117 lymphoid and 5 myeloid malignant hematopoietic neoplasms. Our study revealed that D2-40 strongly stained 3 of 4 FDC sarcomas. In contrast, D2-40 stained only 2/38 other spindle cell neoplasms tested. Furthermore, we observed that D2-40 highlighted more FDC meshworks than CD21 in Castleman's disease, follicular lymphoma, nodular lymphocyte predominance Hodgkin lymphoma, and residual reactive germinal centers in a variety of lymphoma types. D2-40 and CD21 stained an equal number of cases of reactive lymphoid hyperplasia, progressively transformed germinal centers and angioimmunoblastic T-cell lymphoma. No expression of podoplanin was detected in normal or neoplastic lymphoid and myeloid cells. We conclude that podoplanin (D2-40) is a sensitive and specific FDC marker, which is superior or equal to CD21 in evaluating both reactive and neoplastic FDCs. In addition, our results suggest that podoplanin (D2-40) can be used to support the diagnosis of FDC sarcoma.
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Spontaneous subperiosteal hemorrhage is a rare complication of von Recklinghausen's disease. There are few reports describing the MR imaging characteristics of this entity. Our case is unique among these as an underlying plexiform neurofibroma was visualized by MR imaging. We present a 12-year-old child with neurofibromatosis 1 who presented with a rapidly enlarging mass of the fibula. Surgery and pathology revealed subperiosteal hemorrhage into a benign, plexiform neurofibroma. The MR imaging features, pathogenesis and clinical implications of this entity are discussed. Recognition of this disease process and differentiating it from malignant transformation can prevent unnecessary surgery.