Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations

Histiocytosis represents a group of uncommon disorders characterized by the abnormal accumulation of specialized immune cells, such as macrophages, dendritic cells, or monocyte-derived cells, in various tissues and organs. Over 100 distinct subtypes have been documented, each displaying a broad spectrum of clinical presentations and histological characteristics. Till today, histiocytosis has been addressed through a combination of chemotherapy, radiotherapy, and surgery, with varying responses from individual patients. Due to its atypical symptoms, it has been prone to misdiagnosis. Advances in our understanding of the cellular and molecular aspects of these conditions are paving the way for improved diagnostic methods and targeted therapies. Researchers have extensively investigated various mutations in patient samples. However, no paper has yet provided a comprehensive summary of the collective analysis of mutations and pathways. Hence, this paper consolidates research efforts that specifically concentrate on gene mutations identified in patient samples of different subtypes of histiocytosis. These insights are essential for developing targeted therapies and improving diagnosis. Further, it provides potential insights to enhance the development of more effective therapeutic approaches for rare diseases. Graphical Abstract: Parts of the figure were drawn by using pictures from Servier Medical Art. Servier Medical Art by Servier is licensed under a Creative Commons Attribution 3.0 Unported License (https://creativecommons.org/licenses/by/3.0/). (Figure presented.)