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Updated: Sep 27, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Central nervous system involvement of systemic ALK-positive histiocytosis with KIF5B-ALK fusion
Yuzuna Aoki1, Masayuki Maeda2, Seiya Kishi1
1Department of Radiology, Mie University School of Medicine, Tsu, Mie, Japan.
Abstract:
ALK-positive histiocytosis is an emerging histiocytic entity that can involve a single organ or multiple organs. This disease frequently involves the central nervous system, and the importance of immunohistochemical and genetic analyses is emphasized for the accurate diagnosis of this rare entity. However, radiological findings of this disease have not been sufficiently described. Here, we report a case of a 3-year-old boy with ALK-positive histiocytosis with systemic masses that was identified to harbor KIF5B-ALK gene fusion.

