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婴儿巨大未成熟畸胎瘤治疗的临床见解——病例报告

Clinical insights from the management of a giant immature teratoma in an infant-a case report.

作者信息

Song Yixiang, Ge Junjie, Wang Jingfu

机构信息

Department of Pediatric Oncology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.

出版信息

AME Case Rep. 2025 Jul 15;9:101. doi: 10.21037/acr-24-249. eCollection 2025.

Abstract

BACKGROUND

The article discusses a rare case of a giant immature teratoma (IMT) in an infant, highlighting the challenges in diagnosing and managing this type of germ cell tumor that arises from abnormal embryonic cell development. Teratoma growth syndrome represents a rare clinical manifestation, posing significant challenges in differential diagnosis, particularly when distinguishing it from peritoneal gliomatosis or progressive germinoma. In essence, growing teratoma syndrome (GTS) constitutes a distinct and intricate clinical entity that requires meticulous monitoring and management to enhance patient outcomes.

CASE DESCRIPTION

The patient was a male infant, presented with a palpable mass in the upper abdomen at 4 months of age. Initial ultrasound and elevated serum alpha-fetoprotein (AFP) levels suggested a retroperitoneal teratoma. After surgery, the diagnosis was confirmed as an IMT [World Health Organization (WHO) grade III]. Despite initial chemotherapy with BEP (bleomycin, etoposide, and cisplatin) and TIC (nab-paclitaxel, ifosfamide, and carboplatin) regimens, the tumor continued to grow, and the patient experienced GTS. A second surgery was performed, and the patient was subsequently treated with TCAV (nab-paclitaxel, cyclophosphamide, epirubicin and vincristine) and TIC chemotherapy, leading to normalization of AFP levels and no evidence of disease over a 4-year follow-up.

CONCLUSIONS

GTS is a rare clinical manifestation that presents substantial challenges in differential diagnosis, particularly in distinguishing it from conditions such as peritoneal gliomatosis or progressive germinoma. Fundamentally, this syndrome represents a unique and complex clinical entity necessitating careful monitoring and management to improve patient outcomes.

摘要

背景

本文讨论了一例婴儿巨大未成熟畸胎瘤(IMT)的罕见病例,强调了诊断和管理这类源于胚胎细胞异常发育的生殖细胞肿瘤所面临的挑战。畸胎瘤生长综合征是一种罕见的临床表现,在鉴别诊断中存在重大挑战,尤其是将其与腹膜胶质瘤病或进展性生殖细胞瘤区分开来时。从本质上讲,生长性畸胎瘤综合征(GTS)是一个独特且复杂的临床实体,需要细致的监测和管理以改善患者预后。

病例描述

该患者为一名男婴,4个月大时上腹部可触及肿块。最初的超声检查及血清甲胎蛋白(AFP)水平升高提示为腹膜后畸胎瘤。手术后,确诊为未成熟畸胎瘤(世界卫生组织(WHO)III级)。尽管最初采用博来霉素、依托泊苷和顺铂(BEP)以及白蛋白结合型紫杉醇、异环磷酰胺和卡铂(TIC)方案进行化疗,但肿瘤仍持续生长,患者出现了生长性畸胎瘤综合征。进行了第二次手术,随后患者接受白蛋白结合型紫杉醇、环磷酰胺、表柔比星和长春新碱(TCAV)及TIC化疗,在4年的随访中,AFP水平恢复正常且无疾病迹象。

结论

生长性畸胎瘤综合征是一种罕见的临床表现,在鉴别诊断中存在重大挑战,尤其是与腹膜胶质瘤病或进展性生殖细胞瘤等疾病相区分时。从根本上说,该综合征是一个独特且复杂的临床实体,需要仔细监测和管理以改善患者预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87ea/12319614/9bf3a2f901f1/acr-09-24-249-f1.jpg

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