Abstract：
OBJECTIVE:Langerhans cell histiocytosis (LCH) is a rare clinical disorder. We retrospectively analysed the clinical manifestations, treatments and prognoses of LCH cases involving the ear, nose, and neck. MATERIALS AND METHODS:28 cases with confirmed LCH in ear, nose or neck were reviewed. We recorded patient age, sex, chief complaints, accompanying symptoms, lesional sites, radiological data, treatments and pathologies. Whole-exome sequencing was performed on the patient diagnosed with LCH and Treacher-Collins syndrome (TCS). RESULTS:The mean age was 14.86 years. Most LCH was in the ear (93%), usually in the mastoid. The most common symptoms were an ear mass and a purulent discharge. Imaging was not very useful. Treatments included surgery, chemotherapy, and radioactive particle implantation. Some cases exhibited multisystem involvement. Most patients enjoyed good prognoses. One patient was diagnosed with both temporal LCH and TCS. Whole-exome sequencing revealed a heterozygous c.261_272delAGGTACCCTTCC(p.87_91delRGTLPinsR) mutation in exon 2 of the POLR1D gene (NM_015972). CONCLUSION:LCH mostly occurs in children. In head and neck it affects principally the mastoid part of the temporal bone. Treatments include surgery, chemotherapy, and irradiation. Most patients enjoy good prognoses. LCH accompanied by TCS is rare and increases the difficulty of diagnosis; molecular data aid in TCS identification.
journal_name
Am J Otolaryngoljournal_title
American journal of otolaryngologyauthors
Guo Y,Ning F,Wang G,Li X,Liu J,Yuan Y,Dai Pdoi
10.1016/j.amjoto.2019.102369subject
Has Abstractpub_date
2020-01-01 00:00:00pages
102369issue
2eissn
0196-0709issn
1532-818Xpii
S0196-0709(19)30966-4journal_volume
41pub_type
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