Law H, Mushtaq I, Williams S, Malone M, Sebire N J
Department of Pediatric Pathology, Great Ormond Street Hospital, London, UK.
Fetal Pediatr Pathol. 2006 Mar-Apr;25(2):95-105. doi: 10.1080/15513810600788780.
The risk of subsequent development of testicular germ cell neoplasia is related to presence of underlying developmental defects such as cryptorchidism, in which the risk is around 0.5%, and XY intersex with abdominal testes, in which the risk may be as high as 20-25%. We examined the hypothesis that the increased risk of germ cell malignancy in intersex testes with Y chromosome was a direct consequence of an abnormal increase in number of PLAP/CD117+ immature germ cells into postnatal life. Archival cases of uncomplicated cryptorchidism (CO) and XY intersex (INT) were identified and anonymized, and a subgroup of aged-matched cases had sections immunostained with placental alkaline phosphatase (PLAP) and CD117. From a total of 89 intersex and 105 cryptorchid cases identified, a power calculation to detect a 20% difference in expression between groups (alpha = 0.05, power = 80%) determined that 18 intersex and 36 cryptorchid cases were required. Thus, 58 cases were examined, median age 3 (range birth-11) years, including 39 CO and 19 INT. The prevalence of any PLAP+ germ cells was 2/39 (5.1%) versus 3/19 (15.7%), respectively. (Z = 1.4, p = 0.17). In contrast, 94% of cases showed presence of any CD117+ germ cells, but the frequency of CD117+ cells was not significantly different between groups (t = 0.56, p = 0.58). CD117 and PLAP identify different populations of germ cells in pediatric testes. The extent of increased risk of malignancy in XY INT is not simply related to increased numbers of immature PLAP+/CD117+ germ cells present; additional factors play a pathogenic role.
睾丸生殖细胞肿瘤后续发生的风险与潜在发育缺陷的存在有关，如隐睾症，其风险约为0.5%，以及伴有腹腔内睾丸的XY性发育异常，其风险可能高达20 - 25%。我们检验了这样一个假设，即伴有Y染色体的性发育异常睾丸中生殖细胞恶性肿瘤风险增加是出生后PLAP/CD117 +未成熟生殖细胞数量异常增加的直接后果。我们识别并匿名了单纯隐睾症（CO）和XY性发育异常（INT）的存档病例，并且对一组年龄匹配病例的切片进行胎盘碱性磷酸酶（PLAP）和CD117免疫染色。在总共识别出的89例性发育异常和105例隐睾病例中，检测两组间20%表达差异的效能计算（α = 0.05，效能 = 80%）确定需要18例性发育异常病例和36例隐睾病例。因此，我们检查了58例病例，中位年龄3岁（范围从出生至11岁），包括39例CO和19例INT。任何PLAP +生殖细胞的患病率分别为2/39（5.1%）和3/19（15.7%）。（Z = 1.4，p = 0.17）。相比之下，94%的病例显示存在任何CD117 +生殖细胞，但两组间CD117 +细胞的频率无显著差异（t = 0.56，p = 0.58）。CD117和PLAP识别小儿睾丸中不同群体的生殖细胞。XY INT中恶性肿瘤风险增加的程度并非简单地与存在的未成熟PLAP +/CD117 +生殖细胞数量增加有关；其他因素起致病作用。
