ALK-positive histiocytosis: Report of a rare case with exclusive involvement of the central nervous system in an adult woman.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-09-03 DOI:10.1111/neup.13002
Yuting Luo, Pingling Wang, Qinru Zhan, Jiao Luo, Baohong Luo
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引用次数: 0

Abstract

ALK-positive histiocytosis is a rare histiocytic disease characterized by ALK positivity. It was first described in 2008 as a systemic disease in infants. The disease often shows positivity for CD68 and CD163 on immunohistochemistry, and genomic analysis frequently reveals KIF5B::ALK fusions. ALK-positive histiocytosis typically follows an indolent course and has a promising prognosis, with conventional treatments usually being effective. Here, we report a rare case of ALK-positive histiocytosis with exclusive involvement of the central nervous system in a 33-year-old Asian adult woman. Although cranial MRI suggested a meningioma, immunohistochemical workup showed that the ALK-positive tumor cells expressed macrophage/histiocyte markers such as CD163 and CD68. Additionally, second-generation sequencing revealed a KIF5B::ALK fusion. Our case highlights the importance of the differential diagnosis in adult central nervous system tumors, emphasizing the combination of morphology, immunophenotype, and molecular approach with ALK status evaluation to confirm a diagnosis of ALK-positive histiocytosis. This case also expands the clinicopathologic spectrum of ALK-positive histiocytosis.

ALK阳性组织细胞增生症:报告一例成年女性中枢神经系统完全受累的罕见病例。
ALK阳性组织细胞增生症是一种以ALK阳性为特征的罕见组织细胞疾病。该病于 2008 年首次被描述为婴儿的一种全身性疾病。该病的免疫组化结果常显示 CD68 和 CD163 阳性,基因组分析常显示 KIF5B::ALK 融合。ALK阳性组织细胞增生症通常病程不长,预后良好,常规治疗通常有效。在此,我们报告了一例罕见的ALK阳性组织细胞增生症病例,患者是一名33岁的亚洲成年女性,中枢神经系统完全受累。虽然头颅磁共振成像提示为脑膜瘤,但免疫组化检查显示,ALK阳性肿瘤细胞表达巨噬细胞/组织细胞标记物,如CD163和CD68。此外,第二代测序发现了KIF5B::ALK融合。我们的病例凸显了成人中枢神经系统肿瘤鉴别诊断的重要性,强调了结合形态学、免疫表型、分子方法和 ALK 状态评估来确诊 ALK 阳性组织细胞增生症的重要性。该病例还扩展了ALK阳性组织细胞增多症的临床病理范围。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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