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Adult Langerhans cell histiocytosis with thyroid gland involvement: clinical presentation, genomic analysis, and outcome

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Abstract

The present study aims to evaluate the characteristics and treatment outcomes of adult Langerhans cell histiocytosis (LCH) patients with thyroid involvement. We retrospectively described the clinical, biological, and genomic characteristics of a series of 36 LCH patients with thyroid involvement in our center between January 2001 and December 2021. At the time of diagnosis, only one patient was classified as having single-system LCH, and 35 patients were classified as having multisystem (MS) LCH. Three patients had coexisting papillary thyroid carcinoma. Patients with thyroid gland involvement had higher frequencies of pituitary (88.6% vs. 53.4%, P < 0.001), liver (45.7% vs. 20.7%, P = 0.003), and lymph node (54.3% vs. 31.6%, P = 0.012) involvement and a lower frequency of bone (45.7% vs. 72.0%, P = 0.003) involvement than patients without thyroid gland involvement. Sixteen patients had abnormal thyroid function, including nine patients with primary hypothyroidism, one patient with central hypothyroidism, and six patients with subclinical hypothyroidism. BRAFV600E, BRAF N486_P490, and MAP2K1 mutations were detected in 14.3%, 57.1%, and 7.1% of patients, respectively. After a 43-month median follow-up, none of the patients died, and 15 patients experienced reactivation. The median event-free survival was 37.5 months. Two of 6 patients with subclinical hypothyroidism had normal thyroid function, and 12 patients still had hypothyroidism after treatment. As the largest adult LCH cohort with thyroid gland involvement to date, we found that patients with thyroid gland involvement had different clinical characteristics, genetic profiles, and outcomes than patients without thyroid gland involvement.

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Acknowledgements

The authors thank the patients and their families. This work was supported by institutional research funding provided by the Non-profit Central Research Institute Fund of the Chinese Academy of Medical Sciences (Grant No. 2019-RC-HL-001 to CXX) and the Beijing Natural Science Foundation (Grant No. 7202160 to CXX).

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Author notes

  1. Cao XX contributed to study conception and design; Cai HC and Liu T contributed to patient follow-up; Cai H contributed to genomic analysis; Cai HC contributed to data analysis and interpretation; Mao YY, Duan MH, Li J, Zhou DB, and Cao XX contributed to patient enrollment; Cai HC and Cao XX wrote the paper; all authors revised the paper and approved the submitted version.

Authors and Affiliations

  1. State Key Laboratory of Complex Severe and Rare Diseases, Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

    Hua-cong Cai, Ting Liu, Hao Cai, Ming-hui Duan, Jian Li, Dao-bin Zhou & Xin-xin Cao

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  1. Hua-cong Cai
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  2. Ting Liu
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  3. Hao Cai
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  4. Ming-hui Duan
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Correspondence to Xin-xin Cao.

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Cai, Hc., Liu, T., Cai, H. et al. Adult Langerhans cell histiocytosis with thyroid gland involvement: clinical presentation, genomic analysis, and outcome. Ann Hematol 101, 1925–1929 (2022). https://doi.org/10.1007/s00277-022-04894-9

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  • DOI: https://doi.org/10.1007/s00277-022-04894-9

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