Murakami Sho, Nagawa Keita, Inui Takanori, Yamamoto Aya, Suzuki Mizuka, Koga Fumitaka, Motoi Toru, Takaki Yasunobu
Department of Radiology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
Department of Urology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
J Kidney Cancer VHL. 2023 Sep 27;10(3):61-68. doi: 10.15586/jkcvhl.v10i3.266. eCollection 2023.
Translocation and transcription factor E3 (TFE3)-rearranged renal cell carcinoma (RCC) is a rare subtype of RCCs characterised by the fusion of the TFE3 transcription factor genes on chromosome Xp11.2 with one of the multiple genes. TFE3-rearranged RCC occurs mainly in children and adolescents, although middle-aged cases are also observed. As computed tomography (CT)/magnetic resonance imaging (MRI) findings of TFE3-rearranged RCC overlap with those of other RCCs, differential diagnosis is often challenging. In the present case reports, we highlighted the features of the fluorine-18-labelled fluorodeoxyglucose positron emission tomography with CT (FDG PET-CT) in TFE3-rearranged RCCs. Due to the rarity of the disease, FDG PET-CT features of TFE3-rearranged RCC have not yet been reported. In our cases, FDG PET-CT showed high standardised uptake values (SUVmax) of 7.14 and 6.25 for primary tumours. This might imply that TFE3-rearranged RCC has high malignant potential. This is conceivable when the molecular background of the disease is considered in terms of glucose metabolism. Our cases suggest that a high SUVmax of the primary tumour is a clinical characteristic of TFE3-rearranged RCCs.
易位性及转录因子E3（TFE3）重排的肾细胞癌（RCC）是肾细胞癌的一种罕见亚型，其特征为Xp11.2染色体上的TFE3转录因子基因与多个基因之一发生融合。TFE3重排的RCC主要发生于儿童和青少年，不过中年病例也有报道。由于TFE3重排的RCC的计算机断层扫描（CT）/磁共振成像（MRI）表现与其他RCC的表现重叠，鉴别诊断往往具有挑战性。在本病例报告中，我们着重介绍了氟-18标记的氟脱氧葡萄糖正电子发射断层扫描联合CT（FDG PET-CT）在TFE3重排的RCC中的特征。由于该疾病罕见，TFE3重排的RCC的FDG PET-CT特征尚未见报道。在我们的病例中，FDG PET-CT显示原发肿瘤的标准化摄取值（SUVmax）分别为7.14和6.25，较高。这可能意味着TFE3重排的RCC具有较高的恶性潜能。从葡萄糖代谢角度考虑该疾病的分子背景时，这是可以想象的。我们的病例提示，原发肿瘤的SUVmax较高是TFE3重排的RCC的临床特征。
