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扩散性皮肤巨细胞瘤的特征和治疗策略

Paula Pernea¹, Cecile Méni^1,2, Julien Rossignol^2,3

¹Department of Dermatology, Reference Center for Rare Skin Disorders in Children, AP-HP, Necker Children's Hospital, Paris Centre University, Paris, France.

JAMA dermatology

|May 28, 2025

概括

在儿童中,扩散性皮肤巨细胞瘤 (DCM) 与黄斑型皮肤巨细胞瘤不同,具有过敏反应和攻击性全身形式的风险增加. 像氨酸激酶抑制剂这样的治疗方法在儿科患者中显示出良好的疗效和耐受性.

科学领域:

儿科血液学儿科血液学
皮肤病学皮肤病学
罕见疾病罕见疾病

背景情况:

扩散性皮肤性乳腺细胞瘤 (DCM) 是一种罕见的,严重的儿科乳腺细胞瘤亚型,涉及广泛的皮肤.
关于儿科DCM的临床和分子特征的综合研究有限.

研究的目的:

描述患有DCM的儿科患者的临床,分子和治疗结果.
为了比较DCM患者的特征与型皮肤巨细胞瘤 (MPCM) 的特征.

主要方法:

在尼克尔儿童医院对33名临床DCM呈现的儿科患者 (1996-2023) 的回顾性分析.
收集的数据包括临床表现,实验室结果和皮肤活检和骨髓的KIT测序.
将DCM队列数据与已发表的儿科MPCM发现进行了比较.

主要成果:

与MPCM相比,DCM患者的基线血清三酶水平的平均值更高 (47.5μg/L与7.4μg/L),过敏反应风险增加 (12.1%与2.4%相比),并且与攻击性全身巨细胞瘤 (ASM) 的相关性更频繁 (12.1%与0.9%相比).
在19.0%的患者中发现了KIT codon 816变异,所有4个病例都与ASM有关.
系统性治疗 (imatinib,midostaurin,sirolimus) 总体上是耐受和有效的;86.6%的未接受治疗的患者在6年内自发回归.

结论:

儿科DCM呈现与MPCM不同,具有较高的过敏反应和ASM风险,与KIT D816V变种一致相关.
铁氨酸激酶抑制剂和西洛斯在儿科DCM中显示出有效性和耐受性,治疗选择以KIT变体类型为指导.
这些发现强调了分子分析对指导治疗和理解儿科乳腺细胞瘤亚型的预后的重要性.

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