Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst

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Title:	Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst
Author(s):	Bekers, E.M.; Eijkelenboom, A.; Grunberg, K.; Roverts, R.C.; Rooy, J.W.J. de ; Geest, I.C.M. van der ; Gorp, J.M. van; Creytens, D.; Flucke, U.E.
Publication year:	2018
Source:	Annals of Diagnostic Pathology, vol. 34, (2018), pp. 56-59
ISSN:	1092-9134
DOI:	https://doi.org/10.1016/j.anndiagpath.2018.01.006
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/193424
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Subject:	Radboudumc 10: Reconstructive and regenerative medicine RIHS: Radboud Institute for Health Sciences Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Pathology Radiology & Nuclear Medicine Orthopaedics
Journal title:	Annals of Diagnostic Pathology
Volume:	vol. 34
Page start:	p. 56
Page end:	p. 59
Abstract:	Myositis ossificans is defined as a self-limiting pseudotumor composed of reactive hypercellular fibrous tissue and bone. USP6 rearrangements have been identified as a consistent genetic driving event in aneurysmal bone cyst and nodular fasciitis. It is therefore an integral part of the diagnostic workup when dealing with (myo)fibroblastic lesions of soft tissue and bone. Two cases of myositis ossificans with USP6 rearrangement were published so far. We determine herein the incidence of USP6 rearrangement in myositis ossificans using USP6 fluorescence in situ hybridization analysis (FISH). Of the 11 cases included, seven patients were female and four were male. Age ranged from 6 to 56years (mean 27years). Lesions were located in the thigh (n=5), knee (n=1), lower leg (n=1), lower arm (n=1), perineum (n=1), gluteal (n=1) and thoracic wall (n=1). All assessable cases except one (8/9) showed rearrangement of USP6 providing evidence that myositis ossificans is genetically related to nodular fasciitis and aneurysmal bone cyst.