Ulbright Thomas M, Amin Mahul B, Young Robert H
Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA.
Am J Surg Pathol. 2007 Jun;31(6):827-35. doi: 10.1097/PAS.0b013e3180309e33.
We report the clinical and pathologic features of 8 boys with Peutz-Jeghers syndrome who had distinctive testicular lesions. The patients were 4 to 13 years of age (mean, 6.5 y), and all had gynecomastia, which was the presenting feature in 7. Physical examination demonstrated bilateral testicular enlargement in the absence of a discrete mass. Advanced bone age and elevated serum estradiol were demonstrated in 3 and 4 cases, respectively. Testicular biopsy, performed in all cases, usually showed no gross abnormality, but on microscopic examination there were patchily distributed clusters of expanded seminiferous tubules that contained large Sertoli cells with vacuolated to eosinophilic cytoplasm admixed with globular deposits of basement membrane that extended from a thickened peritubular basement membrane. Small, focal calcifications occurred in 3 cases; no invasive tumor was present in any of the cases. Follow-up was available in 5 patients after biopsy, and none showed evidence of progression at 10 months to 5 years (median, 4 y). Review of the previously reported cases of testicular lesions in Peutz-Jeghers patients verified a low frequency of invasive tumors (27%) and no known case with metastasis. The testicular lesions seen in patients with Peutz-Jeghers syndrome mostly represent multifocal intratubular neoplasia of large Sertoli cells with unique morphology distinct from other lesions such as the large cell calcifying Sertoli cell tumor and sex cord tumor with annular tubules. The process usually remains confined to the tubules for prolonged intervals (years), but it may occasionally progress to invasive large cell Sertoli cell tumors with or without associated calcification. This indolent course justifies management by careful follow-up, including ultrasound examination, rather than orchiectomy in the majority of cases. Orchiectomy is indicated when there is evidence of an invasive tumor and may be necessary to control hormonal manifestations.
我们报告了8例患有黑斑息肉综合征且伴有独特睾丸病变的男孩的临床和病理特征。患者年龄在4至13岁之间（平均6.5岁），均有男性乳房发育，其中7例以此为首发症状。体格检查显示双侧睾丸肿大，但无明显肿块。分别有3例和4例表现为骨龄超前和血清雌二醇升高。所有病例均进行了睾丸活检，大体检查通常无异常，但显微镜检查显示，生精小管呈散在分布的簇状扩张，其中含有大的支持细胞，其细胞质呈空泡状至嗜酸性，伴有从增厚的管周基底膜延伸而来的基底膜球状沉积物。3例出现小的局灶性钙化；所有病例均未发现侵袭性肿瘤。5例患者在活检后进行了随访，在10个月至5年（中位时间4年）期间均未显示病情进展迹象。回顾先前报道的黑斑息肉综合征患者睾丸病变病例，证实侵袭性肿瘤的发生率较低（27%），且无已知转移病例。黑斑息肉综合征患者所见的睾丸病变大多代表大支持细胞的多灶性小管内瘤变，其形态独特，有别于其他病变，如大细胞钙化支持细胞瘤和环状小管性索肿瘤。该病变过程通常在较长时间内（数年）局限于小管内，但偶尔可能进展为侵袭性大细胞支持细胞瘤，伴或不伴有钙化。这种惰性病程说明在大多数情况下通过仔细随访（包括超声检查）而非睾丸切除术进行处理是合理的。当有侵袭性肿瘤证据时，应行睾丸切除术，对于控制激素表现可能也是必要的。
