Atypical juvenile histiocytosis with novel KIF5B-ALK gene fusion mimicking subglottic hemangioma

Nikolaus E Wolter; Bo Ngan; James A Whitlock; Brendan C Dickson; Evan J Propst

doi:10.1016/j.ijporl.2019.07.010

Atypical juvenile histiocytosis with novel KIF5B-ALK gene fusion mimicking subglottic hemangioma

Int J Pediatr Otorhinolaryngol. 2019 Nov:126:109585. doi: 10.1016/j.ijporl.2019.07.010. Epub 2019 Jul 13.

Authors

Nikolaus E Wolter¹, Bo Ngan², James A Whitlock³, Brendan C Dickson⁴, Evan J Propst⁵

Affiliations

¹ Department of Otolaryngology, Hospital for Sick Children, Toronto, ON, Canada; Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address: [email protected].
² Division of Pathology, Department of Pediatric Laboratory Medicine, Hospital for Sick Children. Toronto, ON, Canada. Electronic address: [email protected].
³ Division of Heamatology/Oncology, Department of Pediatrics, Hospital for Sick Children. Toronto, ON, Canada. Electronic address: [email protected].
⁴ Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada. Electronic address: [email protected].
⁵ Department of Otolaryngology, Hospital for Sick Children, Toronto, ON, Canada; Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address: [email protected].

PMID: 31351348
DOI: 10.1016/j.ijporl.2019.07.010

Abstract

Juvenile Xanthograuloma (JXG) is part of a diverse set of rare histiocytic disorders marked by infiltration of tissues with neoplastic myelomonocytic-derived cells. Molecular analysis has yielded new insights into the classification and management of histiocytic diseases. A three-year-old presented with atypical croup due to a localized subglottic histiocytic lesion mimicking subglottic hemangioma. The lesion was removed via tracheofissure. Pathology revealed a JXG-like histopathology with a rare KIF5B-ALK fusion gene. This is the first isolated ALK-positive lesion to be reported in this location. The discovery of the new ALK-positive subclass of histiocytosis has opened the door for targeted monoclonal ALK inhibition.

Keywords: ALK expression; Histiocytosis; KIF5B-ALK fusion; Pediatric airway; Stridor; Subglottis.

Publication types

Case Reports

MeSH terms

Child, Preschool
Diagnosis, Differential
Genetic Markers
Hemangioma / diagnosis*
Humans
Laryngeal Neoplasms / diagnosis*
Male
Oncogene Proteins, Fusion / genetics*
Xanthogranuloma, Juvenile / diagnosis*

Substances

Genetic Markers
KIF5B-ALK fusion protein, human
Oncogene Proteins, Fusion