小儿肥大细胞增生症消退标准：长期随访。

Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up.

机构信息

Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP5), Paris-Centre University, Imagine Institute, INSERM U1163, Paris, France; Laboratory of Molecular Mechanisms of Hematologic Disorders and Therapeutic Implications, Necker Branch, INSERM U1163 and CNRS ERL 8654, Necker-Enfants Malades Hospital (AP-HP), Paris-Centre University, Imagine Institute, Paris, France; CEREMAST, Imagine Institute, INSERM U1163, Paris, France.

Laboratory of Molecular Mechanisms of Hematologic Disorders and Therapeutic Implications, Necker Branch, INSERM U1163 and CNRS ERL 8654, Necker-Enfants Malades Hospital (AP-HP), Paris-Centre University, Imagine Institute, Paris, France; CEREMAST, Imagine Institute, INSERM U1163, Paris, France; Department of Hematology, Necker-Enfants Malades Hospital (AP-HP5), Paris-Centre University, Imagine Institute, Paris, France.

出版信息

J Allergy Clin Immunol Pract. 2021 Apr;9(4):1695-1704.e5. doi: 10.1016/j.jaip.2020.12.019. Epub 2020 Dec 15.

DOI:10.1016/j.jaip.2020.12.019

PMID:33338682

Abstract

BACKGROUND

Mastocytosis is a neoplastic condition characterized by the accumulation of mast cells (MCs) in 1 or more organ. Adults tend to have persistent, systemic mastocytosis, whereas MC infiltration in children is usually limited to the skin and typically regresses after several years. Both adults and children could display mast cell activation symptoms (MCASs) due to MC mediator release. In more than 85% of both adult and pediatric cases, KIT mutations are present, with the KIT D816V mutation being present in most affected adults but in only half the affected children.

OBJECTIVE

To identify the clinical, biological, and molecular factors associated with the regression of cutaneous mastocytosis (CM) in children, and to assess the correlation between MCASs and CM regression.

METHODS

Patients having suffered from pediatric-onset mastocytosis for at least 8 years were included in a longitudinal cohort study. Clinical data, the baseline serum tryptase level, the KIT sequence, and the progression of MCASs and CM were recorded.

RESULTS

CM regressed in 210 of the 272 included patients (77.2%; mean time to regression, 6.10 years). The rare cases of aggressive systemic mastocytosis were symptomatic from the outset. Congenital mastocytosis and the KIT D816V mutation were associated with CM regression (odds ratio, 0.48, P = .031, and 0.173, P = .031, respectively). Aggravation of MCASs over time was correlated with the persistence of skin lesions. However, the MCASs became more intense in 19% of the patients with MCASs at baseline and CM regression, justifying long-term follow-up in this setting.

CONCLUSIONS

Our results open up new hypotheses with regard to the spontaneous regression of CM in pediatric patients.

摘要

背景

肥大细胞增多症是一种以 1 个或多个器官中肥大细胞（MCs）积聚为特征的肿瘤性疾病。成年人往往患有持续性、全身性肥大细胞增多症，而儿童的 MC 浸润通常局限于皮肤，并且通常在几年后消退。由于 MC 介质的释放，成人和儿童都可能出现肥大细胞激活症状（MCASs）。在超过 85%的成人和儿科病例中，存在 KIT 突变，在大多数受影响的成年人中存在 KIT D816V 突变，但在受影响的儿童中只有一半存在。

目的

确定与儿童皮肤肥大细胞增多症（CM）消退相关的临床、生物学和分子因素，并评估 MCASs 与 CM 消退之间的相关性。

方法

纳入患有儿童期肥大细胞增多症至少 8 年的患者进行纵向队列研究。记录临床数据、基线血清胰蛋白酶水平、KIT 序列以及 MCASs 和 CM 的进展情况。

结果

在纳入的 272 名患者中，有 210 名（77.2%；平均消退时间为 6.10 年）CM 消退。少数侵袭性系统性肥大细胞增多症从一开始就有症状。先天性肥大细胞增多症和 KIT D816V 突变与 CM 消退相关（优势比，0.48，P=0.031 和 0.173，P=0.031）。随着时间的推移，MCASs 的恶化与皮肤病变的持续存在相关。然而，在基线时存在 MCASs 和 CM 消退的 19%的患者中，MCASs 变得更加剧烈，这证明在这种情况下需要长期随访。