{"title":"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。","authors":"Hiroyuki Suzuki, Michitaka Fukuda, Tomotake Shirono, Reiichiro Kondo, Toshimitsu Tanaka, Takashi Niizeki, Jun Akiba, Hironori Koga, Takumi Kawaguchi","doi":"10.2169/internalmedicine.4368-24","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Primary Hepatic Undifferentiated Pleomorphic Sarcoma: Exploring Cancer-related Gene Mutations.\",\"authors\":\"Hiroyuki Suzuki, Michitaka Fukuda, Tomotake Shirono, Reiichiro Kondo, Toshimitsu Tanaka, Takashi Niizeki, Jun Akiba, Hironori Koga, Takumi Kawaguchi\",\"doi\":\"10.2169/internalmedicine.4368-24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":13719,\"journal\":{\"name\":\"Internal Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-11-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Internal Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2169/internalmedicine.4368-24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2169/internalmedicine.4368-24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.
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.
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