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与传统肾细胞癌内多个上皮样肉芽肿相关的5号染色体长臂缺失型骨髓增生异常综合征

5q Minus Myelodysplasia Associated with Multiple Epithelioid Granulomas within Conventional Renal Cell Carcinoma.

作者信息

Matnani Rahul G, Patel Roshan K, Strup Stephen E, Karabakhtsian Rouzan G

机构信息

Department of Pathology and Laboratory Medicine, College of Medicine, Chandler Medical Center, University of Kentucky, 800 Rose Street, Lexington, KY 40536-0298, USA.

出版信息

Case Rep Pathol. 2012;2012:138126. doi: 10.1155/2012/138126. Epub 2012 Jul 16.

Abstract

A 69-year-old Caucasian female, with a previous diagnosis of 5q minus myelodysplastic syndrome, presented with conventional renal cell carcinoma (RCC) associated with multiple-epithelioid nonnecrotizing granulomas. Two previous reports of sarcoidosis, primarily involving the lung and skin, have been described in patients with 5q minus myelodysplasia. A cluster of closely linked genes encoding for cytokines such as IL-4, IL-5, and IL-3 are present on chromosome 5q. Hence, in sarcoidosis, cytokine imbalances associated with the deletion of these cytokine genes have been postulated. However, an occurrence of epithelioid granulomas within a carcinoma, in preexisting clonal myelodysplastic syndrome, has not been described. The patient, in the current study, had long standing 5q minus deletion, clinically characterized by refractory anemia associated with hypolobated megakaryocytes. However, the patient's history was negative for sarcoidosis and the extensive nonnecrotizing epithelioid granulomas were confined within RCC. Due to the absence of Th-2 cytokines, such as IL-4 and IL-5, in a subset of 5q minus myelodysplastic syndrome, proinflammatory Th-1 cytokines such as IFN-γ and TNF-α may be exaggerated in an environment conducive to antigen expression. Hence, we propose a greater susceptibility for the development of granulomas, at least in a subset of patients with 5q minus myelodysplasia.

摘要

一名69岁的白种女性,既往诊断为5q缺失型骨髓增生异常综合征,现患传统型肾细胞癌(RCC),伴有多发上皮样非坏死性肉芽肿。此前有两份关于结节病的报告,主要累及肺部和皮肤,报告对象为患有5q缺失型骨髓增生异常的患者。5号染色体q臂上存在一组紧密连锁的基因,编码细胞因子如IL-4、IL-5和IL-3。因此,在结节病中,有人推测与这些细胞因子基因缺失相关的细胞因子失衡。然而,在已存在的克隆性骨髓增生异常综合征的癌组织内出现上皮样肉芽肿的情况尚未见报道。在本研究中的这名患者,长期存在5q缺失,临床特征为伴有分叶减少的巨核细胞的难治性贫血。然而,患者既往无结节病病史,广泛的非坏死性上皮样肉芽肿局限于肾细胞癌内。由于在一部分5q缺失型骨髓增生异常综合征患者中缺乏Th-2细胞因子,如IL-4和IL-5,在有利于抗原表达的环境中,促炎的Th-1细胞因子如IFN-γ和TNF-α可能会过度表达。因此,我们提出至少在一部分5q缺失型骨髓增生异常综合征患者中,发生肉芽肿的易感性更高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51e9/3420743/57e2329c0d7b/CRIM.PATHOLOGY2012-138126.001.jpg

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