Advancements in the understanding and management of histiocytic neoplasms
10.1007/s44313-024-00022-w
- Author:
Kyung‑Nam KOH
1
;
Su Hyun YOON
;
Sung Han KANG
;
Hyery KIM
;
Ho Joon IM
Author Information
1. Division of Pediatric Hematology/Oncology, Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88, Olympic‑ro, 43‑gil, Songpa‑gu, Seoul 05505, Republic of Korea
- Publication Type:REVIEW
- From:Blood Research
2024;59():22-
- CountryRepublic of Korea
- Language:English
-
Abstract:
Histiocytic neoplasms are rare diseases involving macrophages, dendritic cells, and monocytes. They include Langer‑ hans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and histiocytic sarcoma. Histiocytic neoplasms are characterized by varied clinical courses and prognoses, necessitating a nuanced understanding of their classification, epidemiology, and clinical manifestations. Genetic studies have revealed somatic mutations, predominantly in the MAPK pathway, suggesting a clonal neoplastic nature.This review covers the current understanding of histiocytic neoplasms, molecular pathophysiology, with a particular focus on mutations in genes such as BRAF, MAP2K1, and the PI3K-AKT signaling pathways, and evolving treatment strategies, especially focusing on LCH, ECD, RDD, and JXG. The treatment landscape has evolved with advancements in targeted therapies. BRAF inhibitors, such as vemurafenib and dabrafenib, have shown efficacy, especially in highrisk LCH cases; however, challenges remain, including relapse post-treatment discontinuation, and adverse effects.MEK inhibitors have also demonstrated effectiveness, and cobimetinib has recently been approved for use in adults.Further research is required to determine the optimal treatment duration and strategies for managing therapy inter‑ ruptions. Advancements in molecular genetics and targeted therapies have revolutionized the management of histio‑ cytic neoplasms. However, ongoing research is crucial for optimizing patient outcomes.
