1. Myositis ossificans-like soft tissue aneurysmal bone cyst: a clinical, radiological, and pathological study of seven cases with COL1A1-USP6 fusion and a novel ANGPTL2-USP6 fusion
- Author
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Kelly M. Rios, Meera Hameed, Sinchun Hwang, Edward A. Athanasian, Guo Gord Zhu, Yanming Zhang, Julia A. Bridge, Ryma Benayed, Lingxin Zhang, Kerry Mullaney, John H. Healey, Narasimhan P. Agaram, and Purvil Sukhadia
- Subjects
0301 basic medicine ,Adult ,Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Thigh ,Collagen Type I ,Article ,Pathology and Forensic Medicine ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Medicine ,Humans ,Pathological ,Angiopoietin-Like Protein 2 ,medicine.diagnostic_test ,business.industry ,Soft tissue ,Aneurysmal bone cyst ,Myositis ossificans ,Middle Aged ,medicine.disease ,Collagen Type I, alpha 1 Chain ,Axilla ,Bone Cysts, Aneurysmal ,030104 developmental biology ,medicine.anatomical_structure ,Angiopoietin-like Proteins ,Myositis Ossificans ,030220 oncology & carcinogenesis ,Female ,Gene Fusion ,business ,Ubiquitin Thiolesterase ,Fluorescence in situ hybridization ,Calcification - Abstract
Herein we described the clinical, radiological, histological and molecular characteristics of seven soft tissue aneurysmal bone cyst (STABC) diagnosed and managed at a tertiary cancer center and to elucidate its relationship with myositis ossificans (MO). All cases had established imaging and histopathological diagnosis of STABC and were subject to fluorescent in situ hybridization (FISH) for USP6 rearrangement and Archer® FusionPlex® targeted RNA sequencing analysis (RNASeq) to identify the fusion partner. A thorough literature review of STABC and MO was conducted. The patients presented with painful masses unpreceded by trauma, occurring most commonly in the deep soft tissue of the thigh/gluteus (4/7), and also in the supraclavicular region, the axilla, and the hand. On imaging, the lesions were frequently associated with peripheral calcification on conventional radiographs and CT (6/7), cystic components on ultrasound and MRI, as well as perilesional edema (7/7) and fluid levels (3/7) on MRI. Bone scan (1/1) showed intense radiotracer uptake. Histologically, 6/7 cases demonstrated zonal arrangements reminiscent of MO. USP6 rearrangement was found in all seven cases by FISH and/or RNASeq. RNASeq further detected COL1A1-USP6 fusion in six cases and a novel ANGPTL2-USP6 fusion in one case. Four patients underwent resection of the tumors and were disease-free at their last follow-up. Three patients who underwent incisional or needle biopsies had no evidence of disease progression on imaging studies. In conclusion, the clinical, radiological and pathological overlap between STABC and MO suggests that they are closely related entities. A novel fusion ANGPTL2-USP6 is associated with distinct clinical and pathological presentation.
- Published
- 2019