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。

IF 0.9 4区医学 Q4 PATHOLOGY

International Journal of Surgical Pathology Pub Date : 2025-05-23 DOI:10.1177/10668969251340430

Madhurya Ramineni, Veronica Ulici, David G Hicks, Aaron R Huber, Gregory Dieudonne, Xi Wang

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引用次数: 0

摘要

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。

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

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.

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来源期刊

International Journal of Surgical Pathology 医学-病理学

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).