Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler

被引：0

作者：

White, Jesse ^{[1
]}

Becktell, Kerri ^{[2
]}

Hopp, Amanda ^{[3
]}

Liberio, Nicole ^{[2
]}

Liu, Yajuan J. ^{[4
]}

Hadjiev, Jennifer ^{[1
]}

机构：

[1] Med Coll Wisconsin, Affiliated Hosp, Milwaukee, WI USA

[2] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI USA

[3] Med Coll Wisconsin, Dept Pathol, Milwaukee, WI USA

[4] Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2024年 / 46卷 / 08期

关键词：

spindle cell neoplasm; ocular tumor; novel fusion; CLASSIFICATION; DIAGNOSIS; SARCOMA; UPDATE; TUMORS;

D O I：

10.1097/MPH.0000000000002955

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Spindle cell tumors in the pediatric population are uncommonly reported. This case discusses an 18-month-old who presented initially with unilateral ptosis and was found to have an orbital spindle cell tumor. Pathology evaluation of the tissue was extensive with nonspecific morphologic and immunohistochemical features. Molecular testing demonstrated an MN1::TAF3 fusion on RNA sequencing, which has not been previously described in the literature in association with spindle cell neoplasms. This case highlights the challenging nature of classifying and treating a tumor with a novel fusion.

引用

页码：442 / 445

页数：4

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