Wei Yongbao, Zhang Ruochen, Lin Deng, Chen Xiaoyan, Li Lizhi, Huang Haijian
Shengli Clinical Medical College of Fujian Medical University, Fuzhou, China.
Department of Urology, Fujian Provincial Hospital, Fuzhou, Fujian, China.
Front Oncol. 2024 Apr 19;14:1366766. doi: 10.3389/fonc.2024.1366766. eCollection 2024.
ALK-positive Histiocytosis (ALK-HSs) is a recently identified rare clinical entity characterized by tissue histiocytic alterations associated with ALK gene rearrangement. Clinical presentations can be solitary, multifocal, or systemic (involving multiple sites and organs). Due to limited reported cases, there is inadequate understanding of this disease. This report presents a case of ALK-HSs in a 71-year-old male patient who presented with hematuria for one week. Imaging studies conducted at an external hospital showed multiple lesions in the penis, bilateral testes, back skin, and the third lumbar vertebra. Histopathological findings included spindle and histiocytic cell proliferation with mild or indistinct cellular atypia, interstitial infiltration of lymphocytes, plasma cells, foamy histiocytes, and fibrous tissue proliferation. Immunohistochemistry of the lesion cells revealed positivity for CD68, CD163, ALK1, ALK (D5F3), and Vimentin. FISH testing indicated ALK gene separation in the lesion cells. NGS testing identified the fusion genes KIF5B(NM_004521) and ALK(NM_004304) in the lesion cells. We combined the characteristics of this case with a review of the literature to enhance our understanding of this rare clinical entity.
间变性淋巴瘤激酶阳性组织细胞增多症（ALK-HSs）是一种最近才被确认的罕见临床病症，其特征为与ALK基因重排相关的组织细胞改变。临床表现可以是孤立性、多灶性或全身性的（累及多个部位和器官）。由于报道的病例有限，对这种疾病的了解不足。本报告介绍了一名71岁男性ALK-HSs患者的病例，该患者出现血尿一周。在外院进行的影像学检查显示阴茎、双侧睾丸、背部皮肤和第三腰椎有多处病变。组织病理学检查结果包括梭形细胞和组织细胞增生，细胞异型性轻度或不明显，淋巴细胞、浆细胞、泡沫状组织细胞间质浸润以及纤维组织增生。病变细胞的免疫组织化学显示CD68、CD163、ALK1、ALK（D5F3）和波形蛋白呈阳性。荧光原位杂交检测表明病变细胞中存在ALK基因分离。二代测序检测在病变细胞中鉴定出融合基因KIF5B（NM_004521）和ALK（NM_004304）。我们结合该病例的特征并复习文献，以加深对这种罕见临床病症的理解。
