Herbst H, Kühler-Obbarius C, Lauke H, Sauter M, Mueller-Lantzsch N, Harms D, Löning T
Institut für Pathologie, Universitätskrankenhaus Eppendorf, Hamburg, Germany.
Virchows Arch. 1999 Jan;434(1):11-5. doi: 10.1007/s004280050298.
Gonadoblastomas are rare tumours of abnormal or dysgenetic gonads, often transforming to invasive seminomatous and nonseminomatous germ cell tumours (GCT). Because of the intimate association of noninvasive and invasive lesions, gonadoblastoma may provide clues as to the molecular pathogenesis of GCT. We studied the expression of the human endogenous retrovirus (HERV)-K gag gene in eight gonadoblastomas arising in phenotypically female patients, including two newborn girls. We also studied testicular biopsies with immature Sertoli cell nodules harbouring neoplastic germ cells, a lesion with morphological resemblance to gonadoblastoma. In five gonadoblastomas, invasive seminoma/dysgerminoma was noted, in two cases with formation of additional GCT components. HERV-K gag transcripts were found with moderate levels in gonocytes of all gonadoblastomas and in neoplastic germ cells in testicular Sertoli cell nodules. All invasive GCT except for teratomas displayed HERV-K transcripts. Thus, expression of HERV-K is induced during fetal or embryonal development and precedes invasive GCT formation. Although the specific role of HERV-K expression remains unknown, the findings place HERV-K expression in an appropriate time frame for it to have a role in the molecular pathogenesis of GCT and suggest a precursor-invasive tumour relationship for ovarian GCT equivalent to the more common carcinoma in situ of the testis and testicular GCT.
性腺母细胞瘤是异常或发育不全性腺的罕见肿瘤，常转变为侵袭性精原细胞瘤和非精原细胞瘤性生殖细胞肿瘤（GCT）。由于非侵袭性和侵袭性病变密切相关，性腺母细胞瘤可能为GCT的分子发病机制提供线索。我们研究了人类内源性逆转录病毒（HERV）-K gag基因在8例表型为女性的患者（包括2名新生女婴）所发生的性腺母细胞瘤中的表达情况。我们还研究了伴有肿瘤性生殖细胞的未成熟支持细胞结节的睾丸活检组织，该病变在形态上与性腺母细胞瘤相似。在5例性腺母细胞瘤中，发现有侵袭性精原细胞瘤/无性细胞瘤，2例伴有其他GCT成分的形成。在所有性腺母细胞瘤的生殖母细胞以及睾丸支持细胞结节中的肿瘤性生殖细胞中均发现中等水平的HERV-K gag转录本。除畸胎瘤外，所有侵袭性GCT均显示有HERV-K转录本。因此，HERV-K的表达在胎儿或胚胎发育期间被诱导，并先于侵袭性GCT的形成。尽管HERV-K表达的具体作用尚不清楚，但这些发现将HERV-K的表达置于一个合适的时间框架内，使其有可能在GCT的分子发病机制中发挥作用，并提示卵巢GCT与更常见的睾丸原位癌和睾丸GCT之间存在前驱-侵袭性肿瘤关系。
