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Rare Cause of Dysphagy: Giant Polypoid Esophageal Well-Differentiated Liposarcoma

机译:吞咽困难的罕见原因:食管巨大性息肉样巨乳头状肉瘤

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摘要

Liposarcoma represents one of the most frequent (10–20%) malignant mesenchymal tumors in the adult, affecting mostly the soft tissue of extremities, the trunk or the retroperitoneum. This tumor type occurs exceptionally rarely in the gastrointestinal tract with only few cases described in the literature. In this case we present a 73-year-old male patient who was admitted due to loss of weight, anorexia and postprandial emesis with dysphagy. Gastrographin esophagography failed to make precise diagnostics. CT scan of the upper gastrointestinal tract revealed a large esophageal tumor filling out the whole length of the esophagus. The tumor was removed by parasternocleidomastoidal approach with a stapler. Histopathological examination revealed a well-differentiated liposarcoma (grade I). Well-differentiated liposarcomas are characterised by amplified material of the 12q13-15 chromosomal region, present in the form of giant or ring chromosomes and leading to the overexpression of MDM2 and CDK4 genes. MDM2 and CDK4 proteins can be detected immunhistochemically, which was the case in the reported tumor. Overexpression of these proteins leads to suppression of tumor suppressor genes, leading to increased cell survival.
机译:脂肪肉瘤是成人中最常见的恶性间充质肿瘤之一(10–20%),主要累及四肢,躯干或腹膜后的软组织。这种肿瘤类型在胃肠道中极少发生,文献中仅描述了少数病例。在这种情况下,我们介绍了一名因体重减轻,食欲不振和餐后呕吐伴吞咽困难而入院的73岁男性患者。胃石墨素食管造影未能做出准确的诊断。上消化道的CT扫描显示,大的食道肿瘤填满了整个食道。用吻合器通过胸锁乳突肌途径切除肿瘤。组织病理学检查显示脂肪肉瘤分化良好(I级)。高分化脂肪肉瘤的特征在于12q13-15染色体区域的扩增物质,以巨型或环状染色体的形式存在,并导致MDM2和CDK4基因的过表达。 MDM2和CDK4蛋白可以通过免疫组织化学检测,在报道的肿瘤中就是这种情况。这些蛋白的过度表达导致肿瘤抑制基因的抑制,从而导致细胞存活率的提高。

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