We describe 21 nonpure germinomatous gonadal germ cell tumors (9 with a germinoma component), all but 1 associated with gonadoblastoma, in patients with disorders of sex development who ranged from 7 to 36 years old (average, 20 y). Twenty patients were clinically described as phenotypic females with ambiguous genitalia/virilization and primary amenorrhea. The most common documented peripheral karyotype was 46,XY (10/12; 83%). Fifteen of 16 tumors with available clinicopathologic data were unilateral. They ranged from 7 to 30 cm (mean, 15.5 cm) and were solid and cystic with frequent necrosis and hemorrhage. Gonadoblastoma, in its classic (70%), dissecting (5%), or combined (25%) forms, was identified in all but 1. The malignant germ cell tumors were typically mixed except for 5 pure yolk sac tumors and 1 expansile gonadoblastoma with syncytiotrophoblast cells. When admixed, the most common component was yolk sac tumor (n=10), followed by germinoma (n=9), embryonal carcinoma (n=5), choriocarcinoma (n=4), immature teratoma (n=3), and teratoma (n=2). Typical morphologic patterns of yolk sac neoplasia, including reticular/microcystic, solid (including blastema-like), and endodermal sinus (Schiller-Duval bodies), were seen, as well as glandular (n=10) and hepatoid (n=6) differentiation, with cystically dilated glands and diffuse hepatoid morphology in 3 and 2 tumors, respectively. Two yolk sac tumors showed a sarcomatoid pattern. Somatic-type malignancies (alveolar rhabdomyosarcoma and low-grade spindle cell sarcoma, not otherwise specified) were identified in 1 case each. This is the first large series of germ cell tumors other than typical pure germinoma associated with gonadoblastoma. The high frequency of yolk sac tumor with glandular (especially cystic glandular) and hepatoid morphologies is noteworthy, and their presence should prompt further evaluation for an associated gonadoblastoma and possible disorder of sex development.

我们描述了 7 至 36 岁（平均 20 岁）性发育障碍患者中的​​ 21 例非纯生殖细胞性性腺生殖细胞肿瘤（9 例具有生殖细胞瘤成分），除 1 例外，所有肿瘤均与性腺母细胞瘤相关。20 名患者在临床上被描述为具有不明确生殖器/男性化和原发性闭经的表型女性。最常见的外周核型是 46,XY (10/12; 83%)。具有可用临床病理学数据的 16 个肿瘤中有 15 个是单侧的。它们的直径为7至30厘米（平均15.5厘米），呈实性和囊性，经常坏死和出血。除 1 例外，其余所有肿瘤均发现性腺母细胞瘤的典型形式（70%）、解剖性（5%）或混合性（25%）形式。除了 5 例纯卵黄囊肿瘤和 1 例扩张性性腺母细胞瘤外，恶性生殖细胞肿瘤通常是混合的与合体滋养层细胞。混合时，最常见的成分是卵黄囊肿瘤（n=10），其次是生殖细胞瘤（n=9）、胚胎癌（n=5）、绒毛膜癌（n=4）、未成熟畸胎瘤（n=3）和畸胎瘤（n=2）。观察到卵黄囊肿瘤的典型形态学模式，包括网状/微囊性、实性（包括胚基样）和内胚窦（席勒-杜瓦尔小体），以及腺性（n = 10）和肝样（n = 6）分化，分别有 3 个和 2 个肿瘤具有囊性扩张的腺体和弥漫性肝样形态。两个卵黄囊肿瘤呈肉瘤样模式。体细胞型恶性肿瘤（肺泡横纹肌肉瘤和低度梭形细胞肉瘤，未另有说明）各 1 例。这是除与性腺母细胞瘤相关的典型纯生殖细胞瘤之外的第一个大型生殖细胞肿瘤系列。具有腺体（尤其是囊性腺体）和肝样形态的卵黄囊肿瘤的高频率值得注意，它们的存在应促使进一步评估相关的性腺母细胞瘤和可能的性发育障碍。