RESUMEN
BACKGROUND: Kaposiform hemangioendothelioma (KHE) is a borderline vascular tumor between hemangioma and malignant angiosarcoma. While KHE has strong local invasion with rare spontaneous regression, it is not observed with distant metastasis. Even if KHE is asymptomatic or without the Kasabach-Merritt phenomenon (KMP), bone or joint invasion should clearly receive proactive treatment. KHE commonly affects infants/children but is rarely seen in adults. CASE REPORT: We reported a rare adult KHE case with an invasion of >10 separate forearm/hand bones, who underwent multiple-lesion resection and finger amputation after tumor recurrence. Tumor recurrence and KMP were not observed during the 6-month follow-up after the final operation. During the hospitalization and follow-up period, the patient only received medications for infection prevention and pain relief. CONCLUSIONS: Multiple resectable lesions were found in the distal limb, for which complete resection might not present typical features (high-intensity T2-weighted MRI), which might fail to detect all KHE lesions. Therefore, complete excision is not optimal for multiple resectable KHE lesions.
Asunto(s)
Hemangioendotelioma , Síndrome de Kasabach-Merritt , Sarcoma de Kaposi , Adulto , Humanos , Hemangioendotelioma/diagnóstico , Hemangioendotelioma/cirugía , Hemangioendotelioma/patología , Síndrome de Kasabach-Merritt/cirugía , Síndrome de Kasabach-Merritt/diagnóstico , Síndrome de Kasabach-Merritt/tratamiento farmacológico , Recurrencia Local de Neoplasia , Estudios Retrospectivos , Sarcoma de Kaposi/cirugía , Sarcoma de Kaposi/tratamiento farmacológicoRESUMEN
OBJECTIVE: The association between excision repair cross-complementation (ERCC) gene family (ERCC1 and ERCC2) and osteosarcoma risk was controversial. The aim of this study was to evaluate the association between ERCC1 or ERCC2 and osteosarcoma risk by systematic meta-analysis. MATERIALS AND METHODS: Relative studies were retrieved from electronic databases without language restriction. The last search was updated on March 2017. Quality assessment was analyzed by the Newcastle-Ottawa Scale (NOS) score, which was recommended by the Agency for Healthcare Research and Quality (AHRQ). Meta-analysis was conducted by R language package (R 3.12). RESULTS: This meta-analysis was performed based on 4 case-control studies that included 1208 cases and 2448 controls. The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. CONCLUSIONS: The ERCC2 rs1799793 polymorphism is related to the high risk of osteosarcoma development.
Asunto(s)
Neoplasias Óseas/genética , Osteosarcoma/genética , Polimorfismo de Nucleótido Simple , Proteína de la Xerodermia Pigmentosa del Grupo D/genética , Neoplasias Óseas/enzimología , Estudios de Casos y Controles , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Endonucleasas/genética , Endonucleasas/metabolismo , Predisposición Genética a la Enfermedad , Humanos , Osteosarcoma/enzimología , Fenotipo , Medición de Riesgo , Factores de Riesgo , Proteína de la Xerodermia Pigmentosa del Grupo D/metabolismoRESUMEN
Osteosarcoma (OS) is the most common primary bone malignancy, but current therapies are far from effective for all patients. A better understanding of the pathological mechanism of OS may help to achieve new treatments for this tumor. Hence, the objective of this study was to investigate ego modules and pathways in OS utilizing EgoNet algorithm and pathway-related analysis, and reveal pathological mechanisms underlying OS. The EgoNet algorithm comprises four steps: constructing background protein-protein interaction (PPI) network (PPIN) based on gene expression data and PPI data; extracting differential expression network (DEN) from the background PPIN; identifying ego genes according to topological features of genes in reweighted DEN; and collecting ego modules using module search by ego gene expansion. Consequently, we obtained 5 ego modules (Modules 2, 3, 4, 5, and 6) in total. After applying the permutation test, all presented statistical significance between OS and normal controls. Finally, pathway enrichment analysis combined with Reactome pathway database was performed to investigate pathways, and Fisher's exact test was conducted to capture ego pathways for OS. The ego pathway for Module 2 was CLEC7A/inflammasome pathway, while for Module 3 a tetrasaccharide linker sequence was required for glycosaminoglycan (GAG) synthesis, and for Module 6 was the Rho GTPase cycle. Interestingly, genes in Modules 4 and 5 were enriched in the same pathway, the 2-LTR circle formation. In conclusion, the ego modules and pathways might be potential biomarkers for OS therapeutic index, and give great insight of the molecular mechanism underlying this tumor.
