原发性肝未分化多形性肉瘤罕见病例：探索癌症相关基因突变。

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2024-11-08 DOI:10.2169/internalmedicine.4368-24

Hiroyuki Suzuki, Michitaka Fukuda, Tomotake Shirono, Reiichiro Kondo, Toshimitsu Tanaka, Takashi Niizeki, Jun Akiba, Hironori Koga, Takumi Kawaguchi

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引用次数: 0

摘要

肝未分化多形性肉瘤（UPS）是一种罕见的恶性间质肿瘤，与癌症相关的基因突变尚不明确。一名 60 岁的日本妇女患有肝未分化多形性肉瘤，该瘤生长迅速，无法手术，基因突变分析显示其存在 KRAS 和 TP53 突变。尽管启动了肝动脉灌注化疗，但肿瘤仍在继续生长，而患者的不良表现也使转入一期KRAS突变药物试验的过程变得复杂，导致患者在症状出现8个月后死亡。尽管缺乏成熟的治疗方法，但及时的基因突变分析可促进肝UPS的有效治疗转换。

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A Rare Case of Primary Hepatic Undifferentiated Pleomorphic Sarcoma: Exploring Cancer-related Gene Mutations.

Hepatic undifferentiated pleomorphic sarcoma (UPS) is a rare malignant mesenchymal tumor with unclear cancer-related genetic mutations. In a 60-year-old Japanese woman with a rapidly growing, inoperable hepatic UPS, a genetic mutation analysis revealed KRAS and TP53 mutations. Despite initiating hepatic arterial infusion chemotherapy, the tumor continued to grow, and the patient's poor performance status complicated the transition to a phase I KRAS mutation drug trial, leading to death eight months after the symptom onset. A timely genetic mutation analysis may facilitate effective treatment transitions in hepatic UPS despite the lack of established treatments.

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.