Testicular ultrasound (TU) screening in men from familial testicular cancer (FTC) kindreds

Abstract

14547 Background: A family history of testicular cancer (TC) is associated with a 2- to 10-fold increase in TC risk. Specific abnormalities of the urogenital tract (e.g., cryptorchidism, inguinal hernia) also increase risk. The association between testicular microlithiasis (TM) and testicular intraepithelial neoplasia (TIN) has suggested that the former may be a TC risk factor. The finding of inhomogenous echotexture on ultrasound has also been associated with an increased risk of TIN. In this study, we evaluate ultrasongraphic abnormalities in men with a history of TC and their kindreds. Methods: We analyzed testicular ultrasounds (TU) from 45 FTC cases and 35 unaffected male relatives, drawn from 31 multiple-case FTC families. TU were performed between January 2003 and November 2005 as part of an NCI multidisciplinary etiologic study of FTC. All studies were reviewed by a single radiologist. Results: We found no incident TC. Five focal lesions were seen. Three were thought to be cysts and 2 required further follow-up. The frequency of varicocele and epididymal cyst was similar in both groups. Hydrocele was seen in 7 (16%) cases and 3 (9%) unaffecteds (OR = 2.0; 95% CI = 0.5–8.3). Inhomogenous testicular parenchyma was noted in 12 (27%) cases and 3 (9%) unaffected family members (OR = 3.9; 95% CI = 1.0–15.0). TM was seen in 20 subjects [15 (34%) cases and 5 (14%) unaffecteds, OR = 3.1; 95% CI = 1.0–9.6]. An additional 10 subjects (7 cases, 3 unaffecteds) had calcifications that did not meet diagnostic criteria for TM. The finding of TM was confined to 13 of the 31 families. In 6 of these 13 families, 2 or more subjects had TM. Conclusion: A number of genitourinary conditions were more common in FTC cases than in unaffected blood relatives, providing support for the testicular dysgenesis hypothesis related to TC etiology. TM was found in a high proportion of cases and in a smaller proportion of unaffecteds. In this small series, TM appeared to cluster in families. If validated, these findings could have important implications for both screening and follow-up of FTC families. No significant financial relationships to disclose.