RESUMEN
RATIONALE: Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma harboring an ASPL-TFE3 fusion gene. Herein, we report a case of ASPS associated with brain metastasis. Immunohistochemistry (IHC) for TFE3 antigen expression and fluorescence in situ hybridization (FISH) for TFE3 rearrangement were performed to arrive at an accurate diagnosis. PATIENT CONCERNS: A 47-year-old man was hospitalized for a headache and numbness of the lower limbs. DIAGNOSES: Preoperative computed tomography and magnetic resonance imaging revealed 2 brain masses, 1 each in the right parietal and temporal bones. We diagnosed this case as ASPS with brain metastasis based on histological morphology, IHC, and FISH. INTERVENTIONS: The patient underwent right skull titanium mesh implantation and supratentorial superficial lesion resection. OUTCOMES: : The patient recovered well after discharged from hospital. LESSONS: The diagnosis of ASPS depends on careful clinical, radiographic, histopathological, IHC, and FISH assessments to arrive at the correct diagnosis. Thus, TFE3 may be useful in the diagnosis and treatment of ASPS.
Asunto(s)
Neoplasias Encefálicas , Sarcoma de Parte Blanda Alveolar , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas de Fusión Oncogénica/genética , Sarcoma de Parte Blanda Alveolar/patologíaRESUMEN
Microvascular invasion (MVI) of hepatocellular carcinoma (HCC) is a major risk factor for early recurrence and poor survival after curative surgical therapies. However, MVI can only be diagnosed by pathological examination following resection. The aim of this study is to identify serologic biomarkers for predicting MVI preoperatively to help facilitate treatment decisions. We used the sero-proteomic approach to identify antigens that induce corresponding antibody responses either specifically in the serum from MVI (+) patients or from MVI (-) patients. Six antigens were subsequently identified as HSP 70, HSP 90, alpha-enolase (Eno-1), Annexin A2, glutathione synthetase and beta-actin by mass spectrometry. The antibodies titers in sera corresponding to four of these six antigens were measured by ELISA and compared between 35 MVI (+) patients and 26 MVI (-) patients. The titers of anti-HSP 70 antibodies were significantly higher in MVI (-) patients than those in MVI (+) patients; and the titers of anti-Eno-1 antibodies were significantly lower in MVI (-) patients than those in MVI (+) patients. The results were subjected to multivariate analysis together with other clinicopathologic factors, suggesting that antibodies against HSP 70 and Eno-1 in sera are potential biomarkers for predicting MVI in HCC prior to surgical resection. These biomarkers should be further investigated as potential therapeutic targets.
Asunto(s)
Antígenos de Neoplasias/inmunología , Autoanticuerpos/sangre , Biomarcadores de Tumor/sangre , Carcinoma Hepatocelular/patología , Neoplasias Hepáticas/patología , Adulto , Anciano , Área Bajo la Curva , Biomarcadores de Tumor/inmunología , Carcinoma Hepatocelular/sangre , Proteínas de Unión al ADN/inmunología , Femenino , Proteínas HSP70 de Choque Térmico/inmunología , Humanos , Neoplasias Hepáticas/sangre , Masculino , Persona de Mediana Edad , Invasividad Neoplásica/patología , Fosfopiruvato Hidratasa/inmunología , Curva ROC , Sensibilidad y Especificidad , Proteínas Supresoras de Tumor/inmunologíaRESUMEN
Foregut cystic developmental malformation (FCDM) is a very rare lesion of the alimentary tract, especially in the stomach. We discuss the concepts of gastric duplication cyst, bronchogenic cysts, and FCDM. Nomenclature has been inconsistent and confusing, but, by some definitions, gastric duplication cysts involve gastric mucosa and submucosal glands, bronchogenic cysts involve respiratory mucosa with underlying cartilage and glands, and FCDM lacks gastric mucosa or underlying glands or cartilage but has pseudostratified ciliated columnar epithelium (PCCE). We searched our departmental case files from the past 15 years and identified 12 cases of FCDM in the alimentary tract. We summarize the features of these 12 cases including a report in detail on a 52-year-old man with a submucosal cyst lined with simple PCCE and irregular and stratified circular muscle layers that merged with gastric smooth muscle bundles near the lesser curvature of the gastric cardia. A literature review of cases with this histology yielded 25 cases. We propose the term gastric-FCDM for such cases. Our own series of 12 cases confirms that preoperative recognition of the entity is infrequent and problematic. The rarity of this developmental disorder, as well as a lack of understanding of its embryologic origins, may contribute to missing the diagnosis. Not appreciating the diagnosis preoperatively can lead to an inappropriate surgical approach. In contrast, presurgical recognition of the entity will contribute to a good outcome and reduced risk of complications.