Imaging of Histiocytosis

Multisystem Radiology

Imaging of Histiocytosis in the Era of Genomic Medicine

Hyesun Park, Mizuki Nishino , Jason L. Hornick, Eric D. Jacobsen

Author Affiliations

• From the Departments of Radiology (H.P., M.N.), Pathology (J.L.H.), and Medical Oncology (E.D.J.), Brigham and Women’s Hospital and Dana-Farber Cancer Institute, 450 Brookline Ave, Boston, MA 02215.
• Address correspondence to M.N. (e-mail: Mizuki_Nishino@dfci.harvard.edu).

Published Online:Nov 30 2018https://doi.org/10.1148/rg.2019180054

• Sections
• Full text
• PDF
• CME

• Tools
• Share

Abstract

The article focuses on recent genomic discoveries in histiocytosis and precision medicine approaches to treatment, the imaging manifestations of different types of histiocytosis with correlative histologic and genomic findings featuring adult-onset cases and uncommon subtypes, and areas of unmet need in imaging of histiocytosis.

Histiocytosis describes a group of diseases that have long been considered enigmatic in the history of medicine. Recently, novel genomic analyses have identified somatic oncogenic driver mutations responsible for the pathogenesis of these entities. These discoveries have led to the recharacterization of histiocytoses as neoplastic diseases and have opened a new era of precision medicine approaches for treatment. The histiocytic disorders demonstrate a variety of imaging manifestations involving multiple organ systems, and radiologists play a major role in diagnosis and monitoring. An up-to-date knowledge of the novel genomic discoveries and their implications is essential for radiologists to understand the new approaches to treating histiocytic disorders and to contribute as key members of the multidisciplinary treatment team. This article provides a cutting-edge review of the novel concepts in histiocytosis, with a focus on recent genomic discoveries and precision medicine approaches to treating the disease, and describes imaging manifestations with correlative histologic and genomic findings, with an emphasis on adult-onset cases and uncommon subtypes.