Wei Ding, Jianguo Zhao, Xiao Li, Pengpeng Qu
Department of Gynecological Oncology, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin, China.
Clinical School of Obstetrics and Gynecology Center, Tianjin Medical University, Tianjin, China.
Front Genet. 2022 Aug 10;13:871531. doi: 10.3389/fgene.2022.871531. eCollection 2022.
Primary primitive neuroectodermal tumor (PNET) in the female tract is rare. Recently, a case of cervical PNET was diagnosed in our hospital. A 29-year-old pregnant woman presented with a cystic-solid cervical mass at the 7th week of gestation. The mass grew rapidly during follow-up and ruptured at the 22nd week. A biopsy was performed on the mass. Pathological examination revealed a malignant neoplasm composed of small cells which exhibited positive immunohistochemical (IHC) staining for CD99, SYN, and FLI1. Fluorescence hybridization (FISH) displayed the presence of fusion gene resulting from the chromosomal translocation t (11;22, q24;q12), which confirmed the diagnosis of cervical PNET. The reverse transcription-polymerase chain reaction (RT-PCR) results showed type 2 fusion occurred in this tumor, suggesting a poor prognosis. The patient underwent surgical resection and was given adjuvant chemotherapy followed by pelvic radiotherapy. PNET arising from the genital tract, especially in the uterine cervix, is very rare and presents a diagnostic challenge. FISH and RT-PCR analysis are helpful for the diagnosis of such a tumor at an unusual site, as in the present case.
女性生殖道原发性原始神经外胚层肿瘤（PNET）较为罕见。最近，我院诊断出一例宫颈PNET。一名29岁孕妇在妊娠第7周时出现宫颈囊实性肿块。随访期间肿块迅速增大，并在第22周破裂。对肿块进行了活检。病理检查显示为一种由小细胞组成的恶性肿瘤，免疫组化（IHC）染色显示CD99、SYN和FLI1呈阳性。荧光原位杂交（FISH）显示存在由染色体易位t（11；22，q24；q12）导致的融合基因，这证实了宫颈PNET的诊断。逆转录聚合酶链反应（RT-PCR）结果显示该肿瘤发生了2型融合，提示预后不良。患者接受了手术切除，并给予辅助化疗，随后进行盆腔放疗。起源于生殖道，尤其是子宫颈的PNET非常罕见，且存在诊断挑战。FISH和RT-PCR分析有助于诊断这种发生在不寻常部位的肿瘤，如本例。
