PDF(Pubmed)
Abstract：
BACKGROUND: Extragonadal germ cell tumors originating from the prostate are exceptionally rare. To the best of our knowledge, there have been no reported cases of mixed germ cell tumors in individuals with 46 XX disorder of sex development. In this study, we conducted a comprehensive analysis using whole genome sequencing to investigate the clinicopathological and molecular genetic characteristics of a submitted case, with the objective of elucidating its underlying pathogenesis.
METHODS: A 40-year-old male patient was diagnosed with a combination of 46, XX disorder of sex development and a primary prostate mixed germ cell tumor with yolk sac tumor and teratoma components. Whole-genome sequencing revealed that the tumor cells had a high somatic mutational load. Analysis of genomic structural variations and copy number variants confirmed the patient\'s karyotype as 46, XX (SRY +). Additionally, the patient exhibited short stature, small bilateral testes, slightly enlarged breasts, elevated serum alpha-fetoprotein concentrations, elevated follicle-stimulating hormone and luteinizing hormone levels, and low testosterone levels.
CONCLUSIONS: A case of 46, XX disorder of sex development, along with a primary prostatic mixed germ cell tumor, was diagnosed. This diagnosis has contributed to advancing our understanding of the genetic and phenotypic profile of the disease and may provide some insights for its treatment.
METHODS: A 40-year-old male patient was diagnosed with a combination of 46, XX disorder of sex development and a primary prostate mixed germ cell tumor with yolk sac tumor and teratoma components. Whole-genome sequencing revealed that the tumor cells had a high somatic mutational load. Analysis of genomic structural variations and copy number variants confirmed the patient\'s karyotype as 46, XX (SRY +). Additionally, the patient exhibited short stature, small bilateral testes, slightly enlarged breasts, elevated serum alpha-fetoprotein concentrations, elevated follicle-stimulating hormone and luteinizing hormone levels, and low testosterone levels.
CONCLUSIONS: A case of 46, XX disorder of sex development, along with a primary prostatic mixed germ cell tumor, was diagnosed. This diagnosis has contributed to advancing our understanding of the genetic and phenotypic profile of the disease and may provide some insights for its treatment.
摘要：
背景：起源于前列腺的性腺外生殖细胞肿瘤非常罕见。据我们所知,在46名XX性发育障碍患者中，没有报告混合生殖细胞肿瘤的病例。在这项研究中,我们使用全基因组测序进行了全面分析，以调查提交病例的临床病理和分子遗传学特征，目的是阐明其潜在的发病机制。
方法：一名40岁男性患者被诊断为46，XX性发育障碍和原发性前列腺混合生殖细胞肿瘤，卵黄囊瘤和畸胎瘤成分。全基因组测序显示肿瘤细胞具有较高的体细胞突变负荷。基因组结构变异和拷贝数变异分析证实患者的核型为46,XX(SRY+)。此外,病人身材矮小，双侧小睾丸,乳房稍微增大，血清甲胎蛋白浓度升高，卵泡刺激素和黄体生成素水平升高，睾丸激素水平低。
结论：1例46,XX性发育障碍,以及原发性前列腺混合生殖细胞肿瘤，被诊断出来了.这种诊断有助于提高我们对该疾病的遗传和表型特征的理解，并可能为其治疗提供一些见解。
方法：一名40岁男性患者被诊断为46，XX性发育障碍和原发性前列腺混合生殖细胞肿瘤，卵黄囊瘤和畸胎瘤成分。全基因组测序显示肿瘤细胞具有较高的体细胞突变负荷。基因组结构变异和拷贝数变异分析证实患者的核型为46,XX(SRY+)。此外,病人身材矮小，双侧小睾丸,乳房稍微增大，血清甲胎蛋白浓度升高，卵泡刺激素和黄体生成素水平升高，睾丸激素水平低。
结论：1例46,XX性发育障碍,以及原发性前列腺混合生殖细胞肿瘤，被诊断出来了.这种诊断有助于提高我们对该疾病的遗传和表型特征的理解，并可能为其治疗提供一些见解。
