Rapid Malignant Transformation of a Biopsy Proven Sporadic Soft Tissue Schwannoma to Spindle Cell MPNST With TP53 Mutation as an Early Event.

IF 0.9 4区 医学 Q4 PATHOLOGY
Madhurya Ramineni, Veronica Ulici, David G Hicks, Aaron R Huber, Gregory Dieudonne, Xi Wang
{"title":"Rapid Malignant Transformation of a Biopsy Proven Sporadic Soft Tissue Schwannoma to Spindle Cell MPNST With <i>TP53</i> Mutation as an Early Event.","authors":"Madhurya Ramineni, Veronica Ulici, David G Hicks, Aaron R Huber, Gregory Dieudonne, Xi Wang","doi":"10.1177/10668969251340430","DOIUrl":null,"url":null,"abstract":"<p><p>Malignant peripheral nerve sheath tumors (MPNSTs) primarily originate from the neurofibromatosis 1 (NF1)- associated and/or sporadic neurofibromas. Reports of malignant transformation from a sporadic soft tissue schwannoma are rare. In most tumors documented in this context so far, the malignant component is an epithelioid MPNST with a strong and diffuse S100 positivity. We present a patient diagnosed with a sporadic soft tissue schwannoma on core biopsy, which underwent rapid malignant transformation to a spindle cell type MPNST. Somatic tumor profiling of the excision specimen revealed <i>NF2</i> loss, <i>TP53</i>, <i>NRAS</i>, and subclonal <i>RICTOR</i> gene mutations. A retrospective immunohistochemical stain for p53 on the core biopsy demonstrated an aberrant staining pattern, indicating an early effect of <i>TP53</i> in the process of malignant transformation.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969251340430"},"PeriodicalIF":0.9000,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Surgical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10668969251340430","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) primarily originate from the neurofibromatosis 1 (NF1)- associated and/or sporadic neurofibromas. Reports of malignant transformation from a sporadic soft tissue schwannoma are rare. In most tumors documented in this context so far, the malignant component is an epithelioid MPNST with a strong and diffuse S100 positivity. We present a patient diagnosed with a sporadic soft tissue schwannoma on core biopsy, which underwent rapid malignant transformation to a spindle cell type MPNST. Somatic tumor profiling of the excision specimen revealed NF2 loss, TP53, NRAS, and subclonal RICTOR gene mutations. A retrospective immunohistochemical stain for p53 on the core biopsy demonstrated an aberrant staining pattern, indicating an early effect of TP53 in the process of malignant transformation.

活检证实散发性软组织神经鞘瘤向梭形细胞MPNST的快速恶性转化,TP53突变是早期事件。
恶性周围神经鞘肿瘤(MPNSTs)主要起源于神经纤维瘤病1 (NF1)相关和/或散发性神经纤维瘤。从散发性软组织神经鞘瘤恶性转化的报道是罕见的。到目前为止,在这种情况下记录的大多数肿瘤中,恶性成分是上皮样MPNST,具有强烈的弥漫性S100阳性。我们提出一个病人诊断为散发性软组织神经鞘瘤的核心活检,它经历了快速恶性转化为梭形细胞型MPNST。切除标本的体细胞肿瘤谱显示NF2缺失、TP53、NRAS和亚克隆RICTOR基因突变。对核心活检的p53进行回顾性免疫组化染色显示异常的染色模式,表明TP53在恶性转化过程中的早期作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
2.10
自引率
0.00%
发文量
198
审稿时长
1 months
期刊介绍: International Journal of Surgical Pathology (IJSP) is a peer-reviewed journal published eight times a year, which offers original research and observations covering all major organ systems, timely reviews of new techniques and procedures, discussions of controversies in surgical pathology, case reports, and images in pathology. This journal is a member of the Committee on Publication Ethics (COPE).
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信