Retrospective study of Langerhans cell histiocytosis in ear, nose and neck

Retrospective study of Langerhans cell histiocytosis in ear, nose and neck:



Publication date: Available online 6 December 2019

Source: American Journal of Otolaryngology

Author(s): Yan Guo, Fei Ning, Guojian Wang, Xiaohong Li, Jisheng Liu, Yongyi Yuan, Pu Dai

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.