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

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...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2019-11, Vol.126, p.109585-109585, Article 109585
Main Authors: Wolter, Nikolaus E., Ngan, Bo, Whitlock, James A., Dickson, Brendan C., Propst, Evan J.
Format: Article
Language:English
Subjects:
ALK expression
Child, Preschool
Diagnosis, Differential
Genetic Markers
Hemangioma - diagnosis
Histiocytosis
Humans
KIF5B-ALK fusion
Laryngeal Neoplasms - diagnosis
Male
Oncogene Proteins, Fusion - genetics
Pediatric airway
Stridor
Subglottis
Xanthogranuloma, Juvenile - diagnosis
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Summary: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.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2019.07.010