PMID- 35102523 OWN - NLM STAT- MEDLINE DCOM- 20220728 LR - 20220814 IS - 1433-0350 (Electronic) IS - 0256-7040 (Linking) VI - 38 IP - 8 DP - 2022 Aug TI - Solid-variant aneurysmal bone cysts in the craniofacial skeleton: the role of genomic analysis. PG - 1615-1619 LID - 10.1007/s00381-022-05447-1 [doi] AB - BACKGROUND: Solid variant aneurysmal bone cysts (SVABCs) are a rare but well-described subtype of ABCs. While classic ABCs are readily identified radiographically, SVABCs lack these characteristic radiographic features and thus have a wide differential diagnosis on presentation (including Ewing sarcoma, Langerhans cell histiocytosis, osteosarcoma, metastasis, and giant cell tumor). Genomic/molecular analyses are often necessary for the diagnosis of SVABCs, with USP6 rearrangements being a characteristic finding. We present two cases in which genomic analysis was critical in the diagnosis of SVABCs and revealed unique gene fusions that may provide insight into SVABC pathogenesis. CASE DESCRIPTIONS: Two 13-year old male children presented to our institution with new mass lesions involving the craniofacial skeleton. Magnetic resonance imaging (MRI) in both cases revealed predominantly solid, avidly enhancing masses, one of the squamous portion of the temporal bone, and the other arising from the sphenopalatine foramen with extension into the ipsilateral maxillary and ethmoid sinuses. Histopathology displayed predominantly solid morphology, and next generation sequencing (NGS) revealed a FAT1-USP6 gene fusion in the temporal lesion, and a MIR22HG-USP6 gene fusion in the maxillofacial lesion, the latter of which was not identified on fluorescence in situ hybridization (FISH). These findings were most consistent with a diagnosis of SVABC in each case. CONCLUSIONS: These two cases highlight novel gene fusions in atypically located SVABCs and emphasize the ability of NGS to more accurately and consistently identify USP6 gene fusions, particularly in SVABCs that may otherwise be indistinguishable from alternative pathologies. CI - (c) 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. FAU - Lambert, William A AU - Lambert WA AD - University of Connecticut School of Medicine, Farmington, CT, USA. FAU - Angelo, Sophia AU - Angelo S AD - University of Connecticut School of Medicine, Farmington, CT, USA. FAU - Bookland, Markus J AU - Bookland MJ AD - Division of Neurosurgery, Connecticut Children's, Hartford, CT, USA. AD - Department of Surgery, UConn School of Medicine, Farmington, CT, USA. FAU - Tessema, Belachew AU - Tessema B AD - Department of Surgery, UConn School of Medicine, Farmington, CT, USA. AD - ProHealth Physicians Ear Nose and Throat, Farmington, CT, USA. AD - Division of Otolaryngology and Head and Neck Surgery, UConn School of Medicine, Farmington, CT, USA. FAU - Balarezo, Fabiola AU - Balarezo F AD - Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, CT, USA. FAU - Hersh, David S AU - Hersh DS AUID- ORCID: 0000-0003-1177-2201 AD - Division of Neurosurgery, Connecticut Children's, Hartford, CT, USA. dhersh@connecticutchildrens.org. AD - Department of Surgery, UConn School of Medicine, Farmington, CT, USA. dhersh@connecticutchildrens.org. LA - eng PT - Case Reports PT - Journal Article DEP - 20220131 PL - Germany TA - Childs Nerv Syst JT - Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery JID - 8503227 RN - 0 (Proto-Oncogene Proteins) RN - 0 (Radiopharmaceuticals) RN - EC 3.4.19.12 (USP6 protein, human) RN - EC 3.4.19.12 (Ubiquitin Thiolesterase) SB - IM MH - Adolescent MH - *Bone Cysts, Aneurysmal/diagnostic imaging/genetics MH - Genomics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Proto-Oncogene Proteins/genetics MH - Radiopharmaceuticals MH - Temporal Bone/pathology MH - Ubiquitin Thiolesterase/genetics OTO - NOTNLM OT - Aneurysmal bone cyst OT - Genomic OT - Next generation sequencing OT - Solid-variant OT - USP6 EDAT- 2022/02/02 06:00 MHDA- 2022/07/29 06:00 CRDT- 2022/02/01 06:11 PHST- 2021/09/30 00:00 [received] PHST- 2022/01/06 00:00 [accepted] PHST- 2022/02/02 06:00 [pubmed] PHST- 2022/07/29 06:00 [medline] PHST- 2022/02/01 06:11 [entrez] AID - 10.1007/s00381-022-05447-1 [pii] AID - 10.1007/s00381-022-05447-1 [doi] PST - ppublish SO - Childs Nerv Syst. 2022 Aug;38(8):1615-1619. doi: 10.1007/s00381-022-05447-1. Epub 2022 Jan 31.