Lee Ji Yun, Lee Ki Rim, Na Sei, Na Hee Young, Lee Sejoon, Kim Sang-A, Lee Jeong-Ok, Bang Soo-Mee, Kim Jee Hyun, Paik Jin Ho
Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, 13620, Korea.
Department of Pathology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, 13620, Korea.
Oncologist. 2025 Sep 1;30(9). doi: 10.1093/oncolo/oyaf221.
ALK-positive histiocytosis is a rare condition that can affect multiple systems in infants and adults. We identified a rare case of ALK-positive histiocytosis with fusion of the ALK gene with TFG. A 35-year-old previously healthy male has been complaining of back and hip discomfort for seven months. A radiologic examination of the spine and pelvis revealed several hypermetabolic osteolytic lesions. Immunostaining for LCA, CD68, CD117and ALK were positive, whereas immunostaining for CD1a, Langerin, and S100 were negative. Analysis with fluorescence in situ hybridization (FISH) confirmed the ALK rearrangements, and next-generation sequencing (NGS) revealed the fusion of the TFG and ALK genes. After receiving alectinib, an ALK inhibitor of the second generation, the patient showed a durable remission. ALK-positive histiocytosis is a distinct form of histiocytosis that has the potential to be treated with an ALK inhibitor.
ALK 阳性组织细胞增多症是一种罕见疾病，可累及婴幼儿和成人的多个系统。我们发现了一例罕见的 ALK 阳性组织细胞增多症病例，其 ALK 基因与 TFG 融合。一名 35 岁既往健康男性，七个月来一直诉说背部和髋部不适。脊柱和骨盆的放射学检查发现了几处代谢活跃的溶骨性病变。LCA、CD68、CD117 和 ALK 的免疫染色呈阳性，而 CD1a、Langerin 和 S100 的免疫染色呈阴性。荧光原位杂交（FISH）分析证实了 ALK 重排，二代测序（NGS）揭示了 TFG 和 ALK 基因的融合。在接受第二代 ALK 抑制剂阿来替尼治疗后，患者出现了持久缓解。ALK 阳性组织细胞增多症是一种独特的组织细胞增多症形式，有使用 ALK 抑制剂治疗的潜力。
