Woodhouse Joe B, Delahunt Brett, English Sharon F, Fraser Hamish H, Ferguson Martin M
Department of Urology, Christchurch Hospital, Christchurch, New Zealand.
Mod Pathol. 2005 Sep;18(9):1151-6. doi: 10.1038/modpathol.3800448.
Cowden's syndrome is either familial or sporadic and is associated with the predominantly postpubertal development of a variety of cutaneous, stromal and visceral neoplasms. The syndrome is associated with mutations of the PTEN gene and is closely related to Bannayan's syndrome in which macrocephaly and benign tumors, especially lipomas and hemangiomas are pathognomic. In PTEN knockout mice testicular tumors have been reported and for this reason we felt it prudent to examine the testes of our patients with genetically proven Cowden's syndrome. Seven of eight patients who underwent testicular ultrasound were found to have diffuse bilateral hyperechoic lesions. Four patients consented to testicular biopsy and on histological examination multiple foci of adipocytes were found within the testicular interstitium, with no evidence of dysplasia or preclinical malignancy. Immunohistochemical assessment of adipocytes suggested a stromal derivation without evidence of metaplasia from Leydig cells. In one case there was focal atrophy of seminiferous tubules, while in two others there was nodular periorchitis of the tunica albuginea. Biochemical evaluation of testicular function (luteinizing hormone, follicle-stimulating hormone, testosterone, sex hormone binding globulin and free androgen index), prostate-specific antigen and testicular tumor markers were normal, while seminal fluid analysis showed only minor abnormalities. The high incidence of testicular lipomatosis in our adult subjects suggests this to be an important diagnostic criterion for Cowden's syndrome.
考登综合征可为家族性或散发性，与青春期后多种皮肤、间质和内脏肿瘤的主要发生相关。该综合征与PTEN基因突变有关，且与班纳扬综合征密切相关，后者以巨头畸形和良性肿瘤（尤其是脂肪瘤和血管瘤）为特征。在PTEN基因敲除小鼠中已报道有睾丸肿瘤，因此我们认为对经基因证实患有考登综合征的患者的睾丸进行检查是审慎的。接受睾丸超声检查的8名患者中有7名发现双侧弥漫性高回声病变。4名患者同意进行睾丸活检，组织学检查发现睾丸间质内有多个脂肪细胞灶，无发育异常或临床前恶性肿瘤的证据。对脂肪细胞的免疫组织化学评估表明其来源于间质，无来自睾丸间质细胞化生的证据。1例患者曲细精管有局灶性萎缩，另2例患者白膜有结节性睾丸炎。睾丸功能（促黄体生成素、促卵泡激素、睾酮、性激素结合球蛋白和游离雄激素指数）、前列腺特异性抗原和睾丸肿瘤标志物的生化评估均正常，而精液分析仅显示轻微异常。我们成年患者中睾丸脂肪瘤病的高发病率表明这是考登综合征的一项重要诊断标准。
