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病例报告:青春期后患者发生青春期前型睾丸畸胎瘤伴局部转移。

Case Report: Prepubertal-type testicular teratoma with local metastasis in a postpubertal patient.

作者信息

Ghirardelli Smith Olivia C, Tsai Alexander K, Zhong Minghao, Dejban Pegah, Nelson Andrew C, Dolan Michelle, Antonarakis Emmanuel S, Murugan Paari

机构信息

Department of Medicine, Division of Hematology, Oncology & Transplantation, University of Minnesota, Minneapolis, MN, United States.

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United States.

出版信息

Front Oncol. 2025 Feb 25;15:1547258. doi: 10.3389/fonc.2025.1547258. eCollection 2025.

Abstract

INTRODUCTION

We report for the first time a case of a postpubertal patient presenting with a metastatic prepubertal-type testicular teratoma.

CASE DISCUSSION

A 29-year-old male with a history of corrected unilateral cryptorchidism presented with progressive bilateral lower extremity edema. Imaging revealed an inferior vena cava thrombus associated with a complex mass. A left testicular ultrasound identified a solid lesion suggestive of a germ cell tumor, leading to a left radical orchiectomy, which revealed a mature pure teratoma with no evidence of germ cell neoplasia (GCNIS). Excision of the retroperitoneal mass confirmed the presence of mature teratomatous elements without evidence of non-teratomatous germ cell tumor elements or cytological atypia. Fluorescence hybridization (FISH) showed no evidence of gain of 12p, and next-generation sequencing showed no alterations in genes known to be associated with GCT.

CONCLUSION

This case illustrates that pure mature teratomas lacking chromosome 12p abnormalities, GCNIS, and other dysgenetic features, occurring in postpubertal males, cannot invariably be classified into the benign prepubertal-type teratoma category. Contrary to current paradigm, in rare cases these may represent tumors with metastatic potential.

摘要

引言

我们首次报告了一例青春期后患者出现转移性青春期前型睾丸畸胎瘤的病例。

病例讨论

一名29岁男性,有单侧隐睾矫正病史,出现进行性双侧下肢水肿。影像学检查发现下腔静脉血栓伴复杂肿块。左侧睾丸超声检查发现一个实性病变,提示生殖细胞肿瘤,遂行左侧根治性睾丸切除术,结果显示为成熟纯畸胎瘤,无生殖细胞肿瘤形成(GCNIS)证据。切除腹膜后肿块证实存在成熟畸胎瘤成分,无非畸胎瘤性生殖细胞肿瘤成分或细胞学异型性证据。荧光原位杂交(FISH)显示无12p扩增证据,下一代测序显示与生殖细胞肿瘤(GCT)相关的基因无改变。

结论

该病例表明,青春期后男性中出现的缺乏12号染色体p异常、GCNIS及其他发育异常特征的纯成熟畸胎瘤,并非总是可归类为良性青春期前型畸胎瘤。与当前范式相反,在罕见情况下,这些可能代表具有转移潜能的肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e9b/11893418/da0df3104cd2/fonc-15-1547258-g001.jpg

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