下咽孤立性幼年黄色肉芽肿。一名重型β地中海贫血和皮肤肥大细胞增多症患儿的临床病理研究。

Solitary juvenile xanthogranuloma of the hypopharynx. Clinico-pathologic study in a child with β-Thalassemia Major and Cutaneous Mastocytosis.

作者信息

de Soccio Giulia, Savastano Vincenzo, Minasi Simone, Bertin Serena, Serafini Marta, Vittori Tommaso, Riminucci Mara, Corsi Alessandro

机构信息

Department of Sense Organs, Sapienza University of Rome, Italy.

Pediatric ENT Unit, Department of Pediatrics, Sapienza University of Rome, Italy.

出版信息

Int J Pediatr Otorhinolaryngol. 2020 Aug;135:110088. doi: 10.1016/j.ijporl.2020.110088. Epub 2020 May 5.

DOI:10.1016/j.ijporl.2020.110088

PMID:32505931

Abstract

Juvenile Xanthogranuloma (JXG), the most common pediatric non-Langerhans cell histiocytosis, may rarely occur in association with Neurofibromatosis (types 1 and 2), Juvenile Myelomonocytic Leukemia and Cutaneous Mastocytosis (CM) and, morphologically, mimics Erdheim-Chester Disease tissue lesions and ALK-positive histiocytosis. We describe a 4-year-old girl with Beta-Thalassemia Major who developed an hypopharyngeal BRAFV600E- and ALK-negative JXG and CM. JXG has been rarely reported in the aerodigestive tract and in association with CM. In this molecular era, knowledge of genetic heterogeneity of JXG and clinical scenarios in which it may develop is essential for the appropriate diagnosis and treatment of each individual patient.

摘要

幼年黄色肉芽肿（JXG）是最常见的儿童非朗格汉斯细胞组织细胞增生症，极少情况下可能与神经纤维瘤病（1型和2型）、幼年型粒-单核细胞白血病及皮肤肥大细胞增多症（CM）相关，在形态学上可模拟 Erdheim-Chester病的组织病变及ALK阳性组织细胞增生症。我们报告了一名4岁重型β地中海贫血女童，其发生了下咽BRAFV600E阴性且ALK阴性的JXG及CM。JXG在气道消化道及与CM相关的情况中鲜有报道。在这个分子时代，了解JXG的基因异质性及其可能发生的临床情况对于每个患者的恰当诊断和治疗至关重要。