A renal cell carcinoma with EWSR1-TFE3 fusion gene
A renal cell carcinoma with EWSR1-TFE3 fusion gene
复制标题
具有 EWSR1-TFE3 融合基因的肾细胞癌。
DOI：
10.1002/gcc.22830
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发表时间：
2019-12-04
影响因子：
3.7
通讯作者：
Xiao, Sheng
中科院分区：
文献类型：
--
作者：
Lang, Xing-Ping;Pan, Jian;Xiao, Sheng
EWSR 1和TFE 3都是已知的癌基因。EWSR 1编码一种RNA结合蛋白，参与多种软组织肿瘤，包括尤文肉瘤/外周神经外胚层肿瘤、促结缔组织增生性小圆细胞肿瘤、软组织透明细胞肉瘤（软组织恶性黑色素瘤）、皮肤外粘液样软骨肉瘤和粘液样脂肪肉瘤。TFE 3调节高尔基体和溶酶体的稳态，并在肾细胞癌（RCC）、腺泡状软组织肉瘤、上皮样血管内皮瘤和血管周围上皮样细胞肿瘤（PEComa）中重排。在本报告中，我们发现了一例罕见的肾细胞癌，5 'EWSR 1和3 ' TFE 3之间的融合。融合产物保留了TFE 3的大部分功能基序。致癌机制可能涉及TFE 3过表达，通过其与EWSR 1的调节元件并置及其易位到细胞核，导致高尔基体和溶酶体稳态失调。这是第二例含有EWSR 1-TFE 3融合的RCC。
Both EWSR1 and TFE3 are well-known oncogenes. EWSR1 encodes an RNA-binding protein involved in multiple soft tissue tumors, including Ewing's sarcoma/peripheral neuroectodermal tumor, desmoplastic small round cell tumor, soft tissue clear cell sarcoma (malignant melanoma of soft parts), extraskeletal myxoid chondrosarcoma, and myxoid liposarcomas. TFE3 regulates both Golgi and lysosomal homeostasis and is rearranged in renal cell carcinoma (RCC), alveolar soft part sarcoma, epithelioid hemangioendothelioma, and perivascular epitheloid cell tumors (PEComas). In this report, we found a rare case of RCC with a fusion between 5 ' EWSR1 and 3 ' TFE3. The fusion product retained most functional motifs of TFE3. The oncogenic mechanism likely involves TFE3 overexpression through its juxtaposition with the regulatory elements of EWSR1 and its translocation to the nucleus, resulting in the deregulation of Golgi and lysosomal homeostasis. This is a second case of RCC containing EWSR1-TFE3 fusion.