PMID- 36035131 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220830 IS - 1664-8021 (Print) IS - 1664-8021 (Electronic) IS - 1664-8021 (Linking) VI - 13 DP - 2022 TI - Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a pregnant woman: A case report and literature review. PG - 871531 LID - 10.3389/fgene.2022.871531 [doi] LID - 871531 AB - 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 in situ hybridization (FISH) displayed the presence of EWS-FLI1 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 EWS-FLI1 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. CI - Copyright (c) 2022 Wei, Jianguo, Xiao and Pengpeng. FAU - Wei, Ding AU - Wei D AD - Department of Gynecological Oncology, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin, China. FAU - Jianguo, Zhao AU - Jianguo Z AD - Department of Gynecological Oncology, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin, China. FAU - Xiao, Li AU - Xiao L AD - Department of Gynecological Oncology, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin, China. FAU - Pengpeng, Qu AU - Pengpeng Q AD - Department of Gynecological Oncology, Tianjin Central Hospital of Gynecology and Obstetrics, Tianjin, China. AD - Clinical School of Obstetrics and Gynecology Center, Tianjin Medical University, Tianjin, China. LA - eng PT - Case Reports DEP - 20220810 PL - Switzerland TA - Front Genet JT - Frontiers in genetics JID - 101560621 PMC - PMC9399424 OTO - NOTNLM OT - cervix OT - literature review OT - molecular analysis OT - pregnant woman OT - primary primitive neuroectodermal tumor COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2022/08/30 06:00 MHDA- 2022/08/30 06:01 PMCR- 2022/08/10 CRDT- 2022/08/29 05:19 PHST- 2022/02/08 00:00 [received] PHST- 2022/06/27 00:00 [accepted] PHST- 2022/08/29 05:19 [entrez] PHST- 2022/08/30 06:00 [pubmed] PHST- 2022/08/30 06:01 [medline] PHST- 2022/08/10 00:00 [pmc-release] AID - 871531 [pii] AID - 10.3389/fgene.2022.871531 [doi] PST - epublish SO - Front Genet. 2022 Aug 10;13:871531. doi: 10.3389/fgene.2022.871531. eCollection 2022.