Open AccessA Novel ALK–THBS1 Fusion in a Laryngeal Inflammatory Myofibroblastic Tumour: A Case Report and Literature Review
Author(s) -
Abderrahim Elktaibi,
Nazim Benzerdjeb,
Fatah Ameur,
Clémentine Daveau,
Juliet Tantot,
Valérie Costes Martineau
Publication year - 2019
Publication title -
head and neck pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.801
H-Index - 50
eISSN - 1936-0568
pISSN - 1936-055X
DOI - 10.1007/s12105-019-01061-x
Subject(s) - medicine , laryngoscopy , otorhinolaryngology , larynx , laryngeal neoplasm , pathology , lesion , cord , surgery , intubation
Inflammatory myofibroblastic tumor (IMT) is an uncommon neoplasm most frequently seen in the abdomino-pelvic region and lungs of children and young adults. Laryngeal tumors are rare. We present a case of a 23-year-old patient with a 5 month history of laryngitis and aphonia unresolved by corticotherapy. Laryngoscopy revealed a small, non-ulcerated, subepithelial, polypoid mass arising from the right vocal cord. The diagnosis of IMT with ALK expression was supported by histopathologic and molecular analysis. The THBS1 fusion partner was identified by RNA-sequencing analysis for the first time in a laryngeal IMT. This fusion partner has only been identified in six uterine IMTs thus far. Conservative excision of the lesion yielded excellent functional results for the patient. The voice was preserved and no recurrences were seen after 6 months of follow-up.