Choyke P L, Glenn G M, Wagner J P, Lubensky I A, Thakore K, Zbar B, Linehan W M, Walther M M
Diagnostic Radiology Department, Warren Grant Magnuson Clinical Center, Bethesda, MD 20892, USA.
Urology. 1997 Jun;49(6):926-31. doi: 10.1016/s0090-4295(97)00074-5.
Epididymal cystadenomas (ECs) are frequently found in association with von Hippel-Lindau disease (VHL), but little has been reported about their sonographic appearance. We review the sonographic appearance of ECs, the relationship of ECs to other manifestations of VHL, and the specific genetic mutations associated with ECs.
Fifty-six male patients with VHL were examined with scrotal sonography and physical examination as part of a larger screening program for VHL. The head of the epididymis was measured in two planes on sonography and compared with age-matched normal controls. All VHL patients with palpable epididymal abnormalities or enlargement (more than two standard deviations) of the head of the epididymis on ultrasound were considered positive for EC.
Thirty of 56 (54%) male patients with VHL demonstrated a unilateral (n = 10; 33%) or bilateral (n = 20; 67%) solid abnormality in the head of the epididymis suggestive of EC. Sonographic appearances ranged from a solid mass with multiple tiny cysts to an almost completely solid mass. The most common appearance was a 15- to 20-mm solid mass with small cystic components. Dilated efferent ductules were seen within the testicle in 7 men, evidently a result of chronic obstruction. There was no association between the clinical subtype of VHL and the presence of ECs (P > 0.10, chi square). Mutations resulting in a truncated gene product were associated with the development of ECs but the association did not reach statistical significance (P = 0.06).
ECs are a common manifestation of VHL in men and exhibit a range of appearances on ultrasound. Sonography can be used to identify ECs and determine the extent of cystic dilation of the rete testes. The benign course of ECs and the usual absence of clinical symptoms favor a conservative approach to their management.
附睾囊腺瘤（ECs）常与冯·希佩尔-林道病（VHL）相关，但关于其超声表现的报道较少。我们回顾了ECs的超声表现、ECs与VHL其他表现的关系以及与ECs相关的特定基因突变。
作为一项更大规模的VHL筛查项目的一部分，对56例男性VHL患者进行了阴囊超声检查和体格检查。在超声检查中，在两个平面测量附睾头部，并与年龄匹配的正常对照进行比较。所有超声检查发现附睾有可触及异常或附睾头部肿大（超过两个标准差）的VHL患者均被视为EC阳性。
56例男性VHL患者中有30例（54%）在附睾头部表现为单侧（n = 10；33%）或双侧（n = 20；67%）实性异常，提示为EC。超声表现从有多个微小囊肿的实性肿块到几乎完全实性的肿块不等。最常见的表现是一个15至20毫米的实性肿块伴有小的囊性成分。7名男性患者的睾丸内可见扩张的输出小管，显然是慢性梗阻的结果。VHL的临床亚型与ECs的存在之间无关联（P > 0.10, 卡方检验）。导致截短基因产物的突变与ECs的发生有关，但这种关联未达到统计学意义（P = 0.06）。
ECs是男性VHL的常见表现，在超声上呈现多种表现。超声可用于识别ECs并确定睾丸网的囊性扩张程度。ECs的良性病程及通常无临床症状，这有利于采取保守的治疗方法。
