Atypical juvenile histiocytosis with novel KIF5B-ALK gene fusion mimicking subglottic hemangioma. (November 2019)

• Record Type: Journal Article
• Authors: Wolter, Nikolaus E.; Ngan, Bo; Whitlock, James A.; Dickson, Brendan C.; Propst, Evan J.
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 126(2019:Nov.)
• Publication Date: 2019-11
• Subjects: ALK expression -- KIF5B-ALK fusion -- Histiocytosis -- Pediatric airway -- Stridor -- Subglottis; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2019.07.010
• Languages: English
• ISSNs: 0165-5876

Abstract

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.