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.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Lingxin ZhangMeera Hameed

Abstract

Herein we described the clinical, radiological, histological, and molecular characteristics of seven soft tissue aneurysmal bone cysts (STABCs) diagnosed and managed at a tertiary cancer center and to elucidate their relationship with myositis ossificans (MO). All cases had established imaging and histopathological diagnosis of STABC and were subject to fluorescence in situ hybridization (FISH) for USP6 rearrangement and Archer® FusionPlex® targeted RNA sequencing (RNASeq) analysis 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, 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 fus...Continue Reading

References

Jan 1, 1992·Skeletal Radiology·G AmirE Sucher
Jun 1, 1994·The American Journal of Surgical Pathology·J L Rodríguez-PeraltoM Atienza
May 1, 1996·Virchows Archiv : an International Journal of Pathology·F López-BareaS Sánchez-Herrera
Sep 29, 1999·Genes, Chromosomes & Cancer·G PanoutsakopoulosN Mandahl
Jan 5, 2002·The American Journal of Surgical Pathology·G Petur NielsenAndrew E Rosenberg
Mar 18, 2004·Cancer Research·Andre M OliveiraJonathan A Fletcher
May 20, 2004·Skeletal Radiology·X L WangA M A De Schepper
Sep 21, 2005·Pediatric Radiology·Kaseem A AjilogbaAndrew J Watt
Mar 24, 2007·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Dale A EllisonRichard Nicholas
Sep 1, 1903·Annals of Surgery·J F Binnie
Dec 11, 2007·Cancer Genetics and Cytogenetics·Ioannis PanagopoulosNils Mandahl
May 6, 2011·The Journal of Bone and Joint Surgery. American Volume·Matthias F PietschmannHans Roland Dürr
Aug 10, 2011·Laboratory Investigation; a Journal of Technical Methods and Pathology·Michele R Erickson-JohnsonAndre M Oliveira
Jun 29, 2012·Oncology Letters·Yongqiang HaoKerong Dai
Jun 19, 2013·Human Pathology·André M Oliveira, Margaret M Chou
Nov 11, 2014·Nature Medicine·Zongli ZhengLong Phi Le
Nov 25, 2014·Expert Reviews in Molecular Medicine·Nathalie Thorin-Trescases, Eric Thorin
May 1, 2015·Journal of Radiology Case Reports·Kevin S BakerSonya J Hwang
Apr 30, 2016·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jodi M CarterAndre M Oliveira
Jul 29, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Nimesh R PatelWei-Lien Wang
Nov 22, 2018·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Guo ZhuMeera R Hameed
Feb 16, 2019·Genes, Chromosomes & Cancer·Patrick R BlackburnKatherine B Geiersbach
Dec 13, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Vera A PaulsonAlanna J Church

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Citations

Jul 9, 2020·International Journal of Surgical Pathology·Laura S Hiemcke-JiwaUta Flucke
Oct 27, 2020·Indian Journal of Thoracic and Cardiovascular Surgery : Official Organ, Association of Thoracic and Cardiovascular Surgeons of India·Gnanamuthu Birla RoyMallampati Sameer
Aug 10, 2021·Journal of Bone Oncology·Niklas DeventerTymoteusz Budny
Aug 10, 2021·Genes, Chromosomes & Cancer·David J PapkeG Petur Nielsen

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Methods Mentioned

BETA
RNASeq
biopsy
Fluorescence

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