Congenital Undifferentiated Retroperitoneal Sarcoma With YWHAE::NUTM2B Fusion From the Abdomen to the Brain.

IF 0.8 4区医学 Q4 HEMATOLOGY

Journal of Pediatric Hematology/Oncology Pub Date : 2025-09-22 DOI:10.1097/MPH.0000000000003129

Marleni R Torres Nunez, David Livingston, Julieann C Lee, Zach Abramson, Soniya Pinto, Faizan Malik, Selene C Koo, Jessica Gartrell

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引用次数: 0

Abstract

Background: YWHAE::NUTM2B fusion-positive undifferentiated sarcomas in infants have been recently described as molecular characterization increases to classify challenging solid tumor cases. The impact of this molecular distinction on clinical behavior remains unclear, posing significant challenges for treatment decision-making.

Methods: Data were obtained from the patient's medical record, including the diagnostic workup and management. A review of previously published cases was performed..

Results: We present a case of congenital undifferentiated retroperitoneal sarcoma harboring a YWHAE::NUTM2B fusion, highlighting the potential significance of brain imaging surveillance in disease management.

Conclusion: This case, combined with others, reveals a potential pattern of central nervous system (CNS) metastasis within this molecular subgroup, thus highlighting the importance of brain surveillance imaging and the relevance of CNS-penetrant chemotherapy-based regimens.

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腹膜后先天性未分化肉瘤伴腹脑YWHAE::NUTM2B融合。

背景：YWHAE::NUTM2B融合阳性婴儿未分化肉瘤最近被描述为分子特征增加，以分类挑战性实体瘤病例。这种分子差异对临床行为的影响尚不清楚，这对治疗决策提出了重大挑战。方法：通过Data查阅患者的病历，包括诊断检查和处理。对先前发表的病例进行了回顾。结果：我们报告了一例先天性未分化腹膜后肉瘤，其中包含YWHAE::NUTM2B融合，突出了脑成像监测在疾病管理中的潜在意义。结论：本病例结合其他病例，揭示了该分子亚群中中枢神经系统（CNS）转移的潜在模式，从而突出了脑监测成像的重要性以及基于CNS渗透的化疗方案的相关性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Pediatric Hematology/Oncology 医学-小儿科

CiteScore

1.90

自引率

8.30%

发文量

415

审稿时长

2.5 months

期刊介绍： Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.