脐带alk阳性组织细胞增生合并KIF5B-ALK融合:1例报告及文献复习

Q4 Medicine Human Pathology: Case Reports Pub Date : 2021-06-01 DOI:10.1016/j.ehpc.2021.200504

Yili Zhu , Jun Fan , Huaxiong Pan , Bo Huang , Ying Wu , Heshui Shi , Xiu Nie

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引用次数: 2

摘要

自2008年首次报道间变性淋巴瘤激酶(ALK)阳性组织细胞增多症病例以来，ALK阳性组织细胞增多症的范围已经扩大到包括大龄儿童和成人的局部疾病，最初被描述为婴儿的全身性、自限性疾病。病例介绍我们提出的情况下，18岁的妇女脐周围无痛肿块5个月谁接受了切除肿块。病理检查显示肿瘤主要由非典型梭形细胞的束状到故事状生长混合淋巴细胞浸润组成。肿瘤梭形细胞CD68、CD163和ALK弥漫性阳性。进一步的分子检测显示ALK基因与Kinesin家族成员5B (KIF5B) (E24)-ALK (E20)融合，证实ALK阳性的组织细胞增多症。术后1年半随访未见肿瘤复发。结论局部病变alk阳性组织细胞增多症可通过完全切除得到缓解，临床随访预后良好。

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ALK-positive histiocytosis of the umbilicus with KIF5B-ALK fusion: A case report and review of the literature

Background

Since the first report in 2008 of cases of anaplastic lymphoma kinase (ALK)-positive histiocytosis, originally described as a systemic, self-limiting disease in infants, the range of ALK-positive histiocytosis has been expanded to include localized diseases in older children and adults.

Case presentation

We present the case of an 18-year-old woman with a periumbilical painless mass for 5 months who underwent resection of the mass. Pathological examination showed that the tumour consisted predominantly of fascicular to storiform growth of nonatypical spindle cells admixed with lymphocytic infiltrates. The tumour spindle cells were diffusely positive for CD68, CD163 and ALK. Further molecular tests revealed an ALK gene fusion with Kinesin Family Member 5B (KIF5B) (E24)-ALK (E20), confirming ALK-positive histiocytosis. Follow-up at one and a half years after resection showed no tumour recurrence.