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ALK-positive histiocytosis: Report of a rare case with exclusive involvement of the central nervous system in an adult woman.
Luo, Yuting; Wang, Pingling; Zhan, Qinru; Luo, Jiao; Luo, Baohong.
Affiliation
  • Luo Y; Department of Pathology, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China.
  • Wang P; Department of Pathology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Zhan Q; Department of Pathology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Luo J; Department of Pathology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Luo B; Department of Pathology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Neuropathology ; 2024 Sep 03.
Article de En | MEDLINE | ID: mdl-39227986
ABSTRACT
ALK-positive histiocytosis is a rare histiocytic disease characterized by ALK positivity. It was first described in 2008 as a systemic disease in infants. The disease often shows positivity for CD68 and CD163 on immunohistochemistry, and genomic analysis frequently reveals KIF5BALK fusions. ALK-positive histiocytosis typically follows an indolent course and has a promising prognosis, with conventional treatments usually being effective. Here, we report a rare case of ALK-positive histiocytosis with exclusive involvement of the central nervous system in a 33-year-old Asian adult woman. Although cranial MRI suggested a meningioma, immunohistochemical workup showed that the ALK-positive tumor cells expressed macrophage/histiocyte markers such as CD163 and CD68. Additionally, second-generation sequencing revealed a KIF5BALK fusion. Our case highlights the importance of the differential diagnosis in adult central nervous system tumors, emphasizing the combination of morphology, immunophenotype, and molecular approach with ALK status evaluation to confirm a diagnosis of ALK-positive histiocytosis. This case also expands the clinicopathologic spectrum of ALK-positive histiocytosis.
Mots clés

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Neuropathol / Neuropathology Sujet du journal: NEUROLOGIA / PATOLOGIA Année: 2024 Type de document: Article Pays d'affiliation: Chine Pays de publication: Australie

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Neuropathol / Neuropathology Sujet du journal: NEUROLOGIA / PATOLOGIA Année: 2024 Type de document: Article Pays d'affiliation: Chine Pays de publication: Australie