Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Pathology, Peking University Cancer Hospital and Institute, No. 52 Fucheng Road, Haidian District, Beijing, 100142, China.
Beijing Novogene Bioinformatics Technology Co., Ltd, Beijing, China.
Virchows Arch. 2021 Dec;479(6):1079-1083. doi: 10.1007/s00428-021-03092-8. Epub 2021 Apr 7.
ALK-positive histiocytosis (APH) is a newly defined entity with specific histological features and a highly recurrent KIF5B-ALK gene fusion. APH is characterized by clonal proliferation of histiocytes and can present as either systemic or localized. It was first described in infants and then expanded to older children and adults. Although lung involvement has been shown in three systemic cases, localized lung lesions have not previously been reported. The ALK gene has many fusion partners in addition to KIF5B in APH. Here, we report a striking case of localized APH in the lung harboring a rare EML4-ALK rearrangement in a 52-year-old Chinese woman. Furthermore, we reviewed the previously published APH cases, analyzed the partner genes of the ALK fusions, and explored the role of patient ethnicity. We discovered a link between ethnicity and this rare disease.
ALK 阳性组织细胞增生症（ALK+ 组织细胞增生症）是一种新定义的疾病实体，具有特定的组织学特征和高度重现的 KIF5B-ALK 基因融合。ALK+ 组织细胞增生症的特征是组织细胞的克隆性增殖，可表现为全身性或局限性。它最初在婴儿中描述，然后扩展到年龄较大的儿童和成人。尽管已有三例系统性病例显示肺部受累，但以前没有报告过局限性肺部病变。ALK 基因在 APH 中除了 KIF5B 以外还有许多融合伙伴。在这里，我们报告了一例在 52 岁中国女性肺部中罕见的 EML4-ALK 重排的局部性 APH 的惊人病例。此外，我们还回顾了之前发表的 APH 病例，分析了 ALK 融合的伙伴基因，并探讨了患者种族的作用。我们发现了种族与这种罕见疾病之间的联系。
