Cutaneous Juvenile Xanthogranuloma With MRC1::PDGFRB Gene Fusion: A Case Report.

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-07-19 DOI:10.1111/pde.16037

Angelina Labib, Xochitl Longstaff, Maria Gnarra Buethe, Allison M Han, Katayoon Shayan, Jennifer Picarsic, Somak Roy, Dawn Z Eichenfield

引用次数: 0

Abstract

Juvenile xanthogranulomas (JXGs) are benign solitary or multiple lesions that present as yellow-red nodules on the skin or other organs, with histology demonstrating normolipidemic, non-Langerhans cell histiocytosis. We present a case of a clinically atypical lesion shown to be of the JXG family of lesions following pathologic review. Next-generation sequencing (NGS) analysis revealed a MRC1::PDGFRB gene fusion. This is the third report of the MRC1::PDGFRB gene fusion identified in JXG, and the first case of an isolated cutaneous lesion, which highlights the spectrum of the MRC1::PDGFRB gene fusion in JXG.

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皮肤幼年黄色肉芽肿伴MRC1: PDGFRB基因融合1例报告。

幼年黄色肉芽肿（JXGs）是一种良性的单发或多发病变，表现为皮肤或其他器官上的黄红色结节，组织学表现为正常血脂，非朗格汉斯细胞组织细胞增多症。我们提出一个病例的临床非典型病变显示为病变的JXG家族以下病理审查。下一代测序（NGS）分析显示MRC1::PDGFRB基因融合。这是在JXG中发现的MRC1::PDGFRB基因融合的第三个报告，也是第一个孤立的皮肤病变病例，这突出了MRC1::PDGFRB基因融合在JXG中的光谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.