AlAshqar Abdelrahman, Kadam Maruthi Vijaya, Abi-Raad Rita, Greenman Michelle, Hui Pei, Ratner Elena, Altwerger Gary, Santin Alessandro, Andikyan Vaagn
Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, CT, USA.
Department of Pathology, University of Louisville School of Medicine, Louisville, KY, USA.
Gynecol Oncol Rep. 2024 Nov 30;56:101652. doi: 10.1016/j.gore.2024.101652. eCollection 2024 Dec.
Uterine teratomas are a rare entity with a debated origin. Given its rarity and limitations of diagnostic imaging, diagnosis is typically determined pathologically following surgical resection based on the presence of tissue derived from all germ cell layers. Unlike its ovarian counterpart, the developmental origins are poorly understood; however, recently introduced molecular testing has revolutionized our understanding of these rare tumors.
A 44-year-old primiparous woman presented with a four-week history of vaginal bleeding attributed to the presence of a uterine mass. Given the inconclusive results of imaging and endometrial sampling, the patient opted for a total hysterectomy and was diagnosed with a mature cystic uterine teratoma. Short-tandem repeat genotyping performed on the teratoma and fallopian tube tissues confirmed genetic similarity apart from loss of heterozygosity in six of 16 loci.
This case demonstrates a mature uterine teratoma potentially arising from host pluripotent stem cells supported by molecular testing. The presence of a diploid karyotype and genetic similarity with the host tissues rule out the possibility of a nonfertilized ovum and residual fetal tissue as the origins, respectively, refuting the blastomere and perhaps the parthenogenetic hypotheses. Future work should utilize advanced molecular testing and investigate the role of pluripotent stem cells in the uterus to enhance our understanding of the origins of these rare tumors.
子宫畸胎瘤是一种起源存在争议的罕见实体。鉴于其罕见性以及诊断成像的局限性，诊断通常在手术切除后通过病理检查确定，依据是否存在源自所有生殖细胞层的组织来判断。与卵巢畸胎瘤不同，其发育起源了解甚少；然而，最近引入的分子检测彻底改变了我们对这些罕见肿瘤的认识。
一名44岁初产妇因子宫肿块出现阴道出血四周前来就诊。鉴于成像和子宫内膜取样结果不明确，患者选择了全子宫切除术，术后被诊断为成熟囊性子宫畸胎瘤。对畸胎瘤和输卵管组织进行的短串联重复基因分型证实，除16个位点中有6个位点杂合性缺失外，二者存在基因相似性。
本病例表明，分子检测支持成熟子宫畸胎瘤可能起源于宿主多能干细胞。二倍体核型的存在以及与宿主组织的基因相似性分别排除了未受精卵和残留胎儿组织作为起源的可能性，反驳了卵裂球假说以及可能的孤雌生殖假说。未来的研究应利用先进的分子检测技术，研究多能干细胞在子宫中的作用，以加深我们对这些罕见肿瘤起源的理解。
