Assuntos
Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Neoplasias Orbitárias/patologia , Sarcoma Alveolar de Partes Moles/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Exenteração Orbitária , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Sarcoma Alveolar de Partes Moles/diagnóstico por imagem , Sarcoma Alveolar de Partes Moles/metabolismo , Sarcoma Alveolar de Partes Moles/cirurgiaRESUMO
Pediatric tumors are heterogenous and can be quite varied in appearance. However, those in the infamous "small round blue-cell tumor" group, with their hyperchromatic nuclei and small amount of cytoplasm can be challenging, and their diagnosis and prognostication require cost-efficient and focused immunohistochemistry and ancillary testing. Ideally, ample material should be obtained for routine histology and ancillary testing, including immunohistochemistry, fluorescent in situ hybridization, fresh tissue for cytogenetic studies, and snap-frozen tumor for DNA/RNA extraction both for routine molecular testing (ie, reverse-transcription PCR studies), as well as future research study protocols (genome wide studies, targeted gene sequencing). This review focuses on the main pediatric tumors with emphasis on immunophenotype, keeping in mind that a directed panel approach yields the highest yield with combination of clinical history, histologic features, and ancillary molecular testing.
Assuntos
Biomarcadores Tumorais/genética , Imunofenotipagem , Fenótipo , Criança , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/genética , Tumor Desmoplásico de Pequenas Células Redondas/patologia , Fibrossarcoma/diagnóstico , Fibrossarcoma/genética , Fibrossarcoma/patologia , Hepatoblastoma/diagnóstico , Hepatoblastoma/genética , Hepatoblastoma/patologia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neuroblastoma/diagnóstico , Neuroblastoma/genética , Neuroblastoma/patologia , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/genética , Blastoma Pulmonar/patologia , Rabdomiossarcoma/diagnóstico , Rabdomiossarcoma/genética , Rabdomiossarcoma/patologia , Sarcoma Alveolar de Partes Moles/diagnóstico , Sarcoma Alveolar de Partes Moles/genética , Sarcoma Alveolar de Partes Moles/patologia , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/genética , Sarcoma Sinovial/patologia , Tumor de Wilms/diagnóstico , Tumor de Wilms/genética , Tumor de Wilms/patologiaRESUMO
Alveolar soft-part sarcoma (ASPS) is a rare malignant neoplasm with uncertain histogenesis and with a distinctive morphology. It has been described in the oral cavity, but this is the first report of ASPS metastasizing to the maxillary tuber region. A 27-year-old male patient, who was under chemotherapy treatment for ASPS of the thigh, presented in our dental clinic with a painless and pedunculated nodule on the right tuber maxillae. The nodule was erythematous with smooth and lobular surface, measuring 3 cm in maximum diameter. An incisional biopsy was performed and the diagnosis of metastatic ASPS was made. Histologically, the tumor was characterized by a proliferation of polyhedral cells in pseudoalveolar pattern. Tumor cells were large, showing granular cytoplasm, periodic acid-Schiff positive diastase-resistant intracytoplasmic material, and vesicular nuclei with prominent nucleoli. Unfortunately, the patient died 2 months after the diagnosis of the oral metastasis. Metastases of ASPS to the mouth are very rare and indicate a poor prognosis.
Assuntos
Neoplasias Gengivais/secundário , Maxila/patologia , Sarcoma Alveolar de Partes Moles/secundário , Adulto , Neoplasias Encefálicas/secundário , Nucléolo Celular/ultraestrutura , Núcleo Celular/ultraestrutura , Citoplasma/ultraestrutura , Diagnóstico Diferencial , Evolução Fatal , Doenças da Gengiva/diagnóstico , Granuloma de Células Gigantes/diagnóstico , Granuloma Piogênico/diagnóstico , Humanos , Masculino , Neoplasias Musculares/patologia , Sarcoma Alveolar de Partes Moles/patologia , Coxa da Perna/patologiaAssuntos
Neoplasias dos Seios Paranasais/patologia , Sarcoma Alveolar de Partes Moles/patologia , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Biomarcadores Tumorais/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Paraganglioma/diagnóstico , Neoplasias dos Seios Paranasais/metabolismo , Reação do Ácido Periódico de Schiff , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Sarcoma Alveolar de Partes Moles/metabolismo , Adulto JovemRESUMO
OBJECTIVE: To describe a case of alveolar soft-part sarcoma (ASPS) affecting the tongue of a child and to study prognostic imunohistochemical markers for the disease. STUDY DESIGN: Tissue sections were incubated with primary antibodies reactive to neuron-specific enolase (NSE), vimentin, desmin, S-100 protein, cytokeratins AE1-AE3, EMA, neurofilament, synaptophysin, and muscle-specific actin (MSA), and for prognostic markers, including Ki-67, p53, bcl-2, bax, and nm23. RESULTS: Histologically, the tumor showed a proliferation of large polygonal cells with PAS-positive diastase-resistant intracytoplasmatic material, arranged in an alveolar growth pattern. Diffuse positive reaction for neuron specific enolase (NSE), focal reactivity for desmin and S-100 protein, strong positivity for nm23 and bax, but weak reaction for p53 and Ki-67 were found. No bcl-2-positive cells were noted. CONCLUSION: These immunohistochemical findings may reflect the less aggressive behavior of ASPS in oral tissues.
Assuntos
Sarcoma Alveolar de Partes Moles/patologia , Neoplasias da Língua/patologia , Actinas/análise , Adolescente , Antígenos de Neoplasias/análise , Biomarcadores Tumorais/análise , Desmina/análise , Feminino , Humanos , Imuno-Histoquímica , Queratinas/análise , Antígeno Ki-67/análise , Mucina-1/análise , Nucleosídeo NM23 Difosfato Quinases , Proteínas de Neurofilamentos/análise , Núcleosídeo-Difosfato Quinase/análise , Fosfopiruvato Hidratase/análise , Prognóstico , Proteínas Proto-Oncogênicas c-bcl-2/análise , Proteínas S100/análise , Sinaptofisina/análise , Proteína Supressora de Tumor p53/análise , Vimentina/análise , Proteína X Associada a bcl-2RESUMO
Os autores descrevem, em homem de 25 anos, um caso de sarcoma alveolar de partes moles (SAPM), localizado na coxa direita e com metástases pulmonares. Seis anos antes do aparecimento da neoplasia, o paciente sofreu grave traumatismo, na mesma sede onde se desenvolveu o tumor. Realçam a pouca freqnência da neoplasia, discutem as dificuldades do diagnóstico diferencial, os aspectos histogenéticos, a eventual relaçäo entre o traumatismo e o aparecimento do SAPM e expöem as razöes da conduta adotada.