Li Jinghua, Zhu Haipeng, Ma Xuelian, Li Jia, Xue Jing, Feng Limin
Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Centre for Personalized Cancer Therapy, Ciming Boao International Hospital, Lecheng International Medical Tourism Pilot Zone, Qionghai, Hainan, China.
Front Genet. 2024 Jan 11;14:1286515. doi: 10.3389/fgene.2023.1286515. eCollection 2023.
Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm × 20.0 cm × 10.5 cm solid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4 T lymphocytes and PD-1, whereas the distribution of CD8 T lymphocytes and PDL-1 was sporadic. Despite the administration of enoxaparin to prevent thromboembolism, the patient experienced multiple cerebral infarctions during chemotherapy. Subsequently, the patient chose to decline further treatment and was discharged. This exceptional case imparts several noteworthy lessons. First, the coexistence of Mullerian anomalies, although rare, is not incompatible with Turner syndrome. Second, screening for KIT mutations is imperative to reduce the risk of dysgerminoma in Turner syndrome, especially for patients with Y mosaicism who are recommended for hormone replacement therapy. Lastly, comprehensive anticoagulation therapy is crucial for Turner syndrome patients undergoing cisplatin-based chemotherapy.
无性细胞瘤在没有Y染色体嵌合体或青春期未接受激素治疗的特纳综合征患者中较为罕见。我们报告了一例独特的病例，一名33岁未生育的中国女性，患有间歇性癫痫和苗勒管异常，有双子宫、双宫颈和双阴道。该患者还被诊断为特纳综合征，伴有46,X, del(Xp22.33 - 11.23)和del(2)(q11.1 - 11.2)。MRI显示一个17.0 cm×20.0 cm×10.5 cm的实性卵巢病变。根治性手术及病理检查显示为IIIc期无性细胞瘤，伴有淋巴转移，且在第13外显子中发现KIT基因突变。此外，肿瘤微环境（TME）显示CD4 T淋巴细胞和PD - 1表达强烈，而CD8 T淋巴细胞和PDL - 1的分布则较为散在。尽管给予了依诺肝素预防血栓栓塞，但患者在化疗期间仍发生了多次脑梗死。随后，患者选择拒绝进一步治疗并出院。这个特殊病例有几个值得注意的教训。首先，苗勒管异常虽然罕见，但与特纳综合征并非不相容。其次，筛查KIT突变对于降低特纳综合征患者无性细胞瘤的风险至关重要，特别是对于推荐接受激素替代治疗的Y嵌合体患者。最后，全面的抗凝治疗对于接受以顺铂为基础化疗的特纳综合征患者至关重要。
