新型 MN1::TAF3 融合的纺锤形细胞肿瘤：幼儿中的罕见病例。

IF 0.9 4区医学 Q4 HEMATOLOGY

Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-01 Epub Date: 2024-10-07 DOI:10.1097/MPH.0000000000002955

Jesse White, Kerri Becktell, Amanda Hopp, Nicole Liberio, Yajuan J Liu, Jennifer Hadjiev

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引用次数: 0

摘要

小儿患纺锤形细胞瘤的报道并不多见。本病例讨论的是一名 18 个月大的儿童，起初表现为单侧上睑下垂，后发现患有眼眶纺锤形细胞瘤。病理评估发现该组织具有非特异性的形态学和免疫组化特征。分子检测显示，RNA测序中存在MN1::TAF3融合，此前文献中从未描述过这种融合与纺锤细胞瘤有关。该病例凸显了对新型融合肿瘤进行分类和治疗的挑战性。

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

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.

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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.