Jason R Young1, Geoffrey B Johnson1,2, Robert C Murphy1, Ronald S Go3, Stephen M Broski4. 1. Department of Radiology, Mayo Clinic, Rochester, Minnesota. 2. Department of Immunology, Mayo Clinic, Rochester, Minnesota; and. 3. Department of Hematology, Mayo Clinic, Rochester, Minnesota. 4. Department of Radiology, Mayo Clinic, Rochester, Minnesota broski.stephen@mayo.edu.
Abstract
The purpose of this study was to evaluate 18F-FDG PET/CT for the diagnosis, management, and treatment of Erdheim-Chester disease (ECD). Methods: Our institutional database (2007-2017) was retrospectively reviewed for patients with pathologically proven ECD. A chart review yielded demographics, clinical information, and 5 categories of clinical impact. Two radiologists in consensus interpreted the images. Imaging findings were correlated with clinical data. Results: Seventy-one 18F-FDG PET/CT examinations were performed for 32 patients. The average SUVmax of the most active disease site was 9.2 (SD, 6.1). The most common sites involved were the skeleton (90.6% of patients, including 47% with axial and pelvic skeletal involvement), kidneys (81.3%), and central nervous system (CNS) (46.9%). Twenty-six patients were tested for a proto-oncogene B-Raf V600E (BRAF) mutation (18 had the mutation and 8 did not). The presence of a BRAF mutation was associated with 18F-FDG-avid CNS disease (P = 0.0357), higher SUVmax (P = 0.0044), and greater mortality (P = 0.0215). The presence of CNS disease had 88% specificity and a 92% positive predictive value for predicting the presence of a BRAF mutation. PET/CT examination results influenced patient management in 48% of cases (34/71). Conclusion: 18F-FDG PET/CT results may act as a biomarker for the presence of a BRAF mutation, aid in establishing a diagnosis, guide biopsies, and gauge the treatment response in ECD patients. Axial and pelvic skeletal involvement is greater than previously reported.
The purpose of this study was to evaluate 18F-FDG PET/CT for the diagnosis, management, and treatment of Erdheim-Chester disease (ECD). Methods: Our institutional database (2007-2017) was retrospectively reviewed for patients with pathologically proven ECD. A chart review yielded demographics, clinical information, and 5 categories of clinical impact. Two radiologists in consensus interpreted the images. Imaging findings were correlated with clinical data. Results: Seventy-one 18F-FDG PET/CT examinations were performed for 32 patients. The average SUVmax of the most active disease site was 9.2 (SD, 6.1). The most common sites involved were the skeleton (90.6% of patients, including 47% with axial and pelvic skeletal involvement), kidneys (81.3%), and central nervous system (CNS) (46.9%). Twenty-six patients were tested for a proto-oncogene B-Raf V600E (BRAF) mutation (18 had the mutation and 8 did not). The presence of a BRAF mutation was associated with 18F-FDG-avid CNS disease (P = 0.0357), higher SUVmax (P = 0.0044), and greater mortality (P = 0.0215). The presence of CNS disease had 88% specificity and a 92% positive predictive value for predicting the presence of a BRAF mutation. PET/CT examination results influenced patient management in 48% of cases (34/71). Conclusion: 18F-FDG PET/CT results may act as a biomarker for the presence of a BRAF mutation, aid in establishing a diagnosis, guide biopsies, and gauge the treatment response in ECDpatients. Axial and pelvic skeletal involvement is greater than previously reported.
Authors: Sonia Mahajan; Reiko Nakajima; Mariko Yabe; Ahmet Dogan; Gary A Ulaner; Joachim Yahalom; Ariela Noy; Eli L Diamond; Heiko Schöder Journal: Clin Nucl Med Date: 2020-06 Impact factor: 7.794
Authors: Jeeban Paul Das; Lola Xie; Chris C Riedl; Sara A Hayes; Michelle S Ginsberg; Darragh F Halpenny Journal: Br J Radiol Date: 2019-08-14 Impact factor: 3.039
Authors: Gaurav Goyal; Aishwarya Ravindran; Jason R Young; Mithun V Shah; N Nora Bennani; Mrinal M Patnaik; Grzegorz S Nowakowski; Gita Thanarajasingam; Thomas M Habermann; Robert Vassallo; Taimur Sher; Sameer A Parikh; Karen L Rech; Ronald S Go Journal: Haematologica Date: 2020-01-31 Impact factor: 9.941