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Localized ALK-positive histiocytosis in a Chinese woman: report of a case in the lung with a novel EML4-ALK rearrangement.

Yan-Hua BaiWei SunDongfeng NiuXin YangXinting DiaoYang YuDongmei Lin
Published in: Virchows Archiv : an international journal of pathology (2021)
ALK-positive histiocytosis (APH) is a newly defined entity with specific histological features and a highly recurrent KIF5B-ALK gene fusion. APH is characterized by clonal proliferation of histiocytes and can present as either systemic or localized. It was first described in infants and then expanded to older children and adults. Although lung involvement has been shown in three systemic cases, localized lung lesions have not previously been reported. The ALK gene has many fusion partners in addition to KIF5B in APH. Here, we report a striking case of localized APH in the lung harboring a rare EML4-ALK rearrangement in a 52-year-old Chinese woman. Furthermore, we reviewed the previously published APH cases, analyzed the partner genes of the ALK fusions, and explored the role of patient ethnicity. We discovered a link between ethnicity and this rare disease.
Keyphrases
  • advanced non small cell lung cancer
  • genome wide
  • signaling pathway
  • copy number
  • genome wide identification
  • hiv testing
  • human immunodeficiency virus
  • hepatitis c virus
  • drug induced