小儿胸部 NUT 癌中的新型 NUTM1-NSMCE2 融合基因

IF 0.9 4区医学 Q4 HEMATOLOGY

Journal of Pediatric Hematology/Oncology Pub Date : 2024-07-01 Epub Date: 2024-05-21 DOI:10.1097/MPH.0000000000002884

Francesco De Leonardis, Vittorio Greco Miani, Silvia Vallese, Sabina Barresi, Giuseppe Marulli, Chiara Novielli, Patrizia Dall'Igna, Michele Maruccia, Nicola Santoro

{"title":"小儿胸部 NUT 癌中的新型 NUTM1-NSMCE2 融合基因","authors":"Francesco De Leonardis, Vittorio Greco Miani, Silvia Vallese, Sabina Barresi, Giuseppe Marulli, Chiara Novielli, Patrizia Dall'Igna, Michele Maruccia, Nicola Santoro","doi":"10.1097/MPH.0000000000002884","DOIUrl":null,"url":null,"abstract":"Nuclear protein of the testis carcinoma is an exceedingly rare and poorly differentiated carcinoma characterized by BDR4::NUTM1 gene translocation. Typically, the tumor affects young adults, and no standardized recommendations for therapeutic management have been available since 2022; the clinical course remains mostly dismal. We report the successful multimodal treatment of a 13-year-old boy affected by a primary chest NUT-carcinoma with a novel NUTM1 rearrangement that remains in complete continuous remission at 30 months from diagnosis.","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma.\",\"authors\":\"Francesco De Leonardis, Vittorio Greco Miani, Silvia Vallese, Sabina Barresi, Giuseppe Marulli, Chiara Novielli, Patrizia Dall'Igna, Michele Maruccia, Nicola Santoro\",\"doi\":\"10.1097/MPH.0000000000002884\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Nuclear protein of the testis carcinoma is an exceedingly rare and poorly differentiated carcinoma characterized by BDR4::NUTM1 gene translocation. Typically, the tumor affects young adults, and no standardized recommendations for therapeutic management have been available since 2022; the clinical course remains mostly dismal. We report the successful multimodal treatment of a 13-year-old boy affected by a primary chest NUT-carcinoma with a novel NUTM1 rearrangement that remains in complete continuous remission at 30 months from diagnosis.\",\"PeriodicalId\":16693,\"journal\":{\"name\":\"Journal of Pediatric Hematology/Oncology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Hematology/Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MPH.0000000000002884\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Hematology/Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MPH.0000000000002884","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/21 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

睾丸核蛋白癌是一种极为罕见的分化不良癌，其特征是BDR4::NUTM1基因易位。这种肿瘤通常发生在青壮年身上，自 2022 年以来一直没有标准化的治疗建议，临床病程大多不乐观。我们报告了对一名13岁男孩原发性胸部NUT癌（伴有新型NUTM1重排）的成功多模式治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma.

Nuclear protein of the testis carcinoma is an exceedingly rare and poorly differentiated carcinoma characterized by BDR4::NUTM1 gene translocation. Typically, the tumor affects young adults, and no standardized recommendations for therapeutic management have been available since 2022; the clinical course remains mostly dismal. We report the successful multimodal treatment of a 13-year-old boy affected by a primary chest NUT-carcinoma with a novel NUTM1 rearrangement that remains in complete continuous remission at 30 months from diagnosis.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.