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USP6 Gene Rearrangement

MedGen UID:
1726277
•Concept ID:
C5418761
•
Cell or Molecular Dysfunction
Synonyms: HRP1 Gene Rearrangement; Tre-2 Gene Rearrangement; TRE17 Gene Rearrangement; TRE2 Gene Rearrangement; TRESMCR Gene Rearrangement; Ubiquitin Specific Peptidase 6 Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the USP6 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUSP6 Gene Rearrangement

Professional guidelines

PubMed

Comprehensive genetic profiling of six pulmonary nuclear protein in testis carcinomas with a novel micropapillary histological subtype in two cases.
Chen M, Yang J, Lv L, Li Y, Tang Y, Liu W, Wang W, Jiang L
Hum Pathol 2021 Sep;115:56-66. Epub 2021 Mar 10 doi: 10.1016/j.humpath.2021.02.004. PMID: 33713695

Recent clinical studies

Etiology

Infantile Cranial Fasciitis: A Clinicopathologic Evaluation.
Cao J, Yang G, Chen Y, Wang Y, Shan Y, Xu S, Liu Y, Feng X, Liu S
J Craniofac Surg 2023 Jun 1;34(4):1226-1230. Epub 2023 Mar 6 doi: 10.1097/SCS.0000000000009234. PMID: 36872515Free PMC Article
Cranial Fasciitis in Children: Expanding the Spectrum of USP6-Associated Clonal Transient Neoplasms.
Malik F, Bernieh A, El Jamal SM, Saad AG
Pediatr Dev Pathol 2022 May-Jun;25(3):304-315. Epub 2022 Jan 4 doi: 10.1177/10935266211063989. PMID: 35686345
Benign infiltrative myofibroblastic neoplasms of childhood with USP6 gene rearrangement.
Malik F, Wang L, Yu Z, Edelman MC, Miles L, Clay MR, Hedges D, Brennan RC, Nichols KE, Beth McCarville M, Bahrami A
Histopathology 2020 Nov;77(5):760-768. Epub 2020 Sep 12 doi: 10.1111/his.14182. PMID: 32583473
Novel EIF5A-USP6 Gene Fusion in Nodular Fasciitis Associated With Unusual Pathologic Features: A Report of a Case and Review of the Literature.
Lenz J, Michal M, Svajdler M, Ptakova N, Lenz D, Konecna P, Kavka M
Am J Dermatopathol 2020 Jul;42(7):539-543. doi: 10.1097/DAD.0000000000001602. PMID: 31880592
Paucicellular Fibrointimal Proliferation Characterizes Pediatric Pulmonary Vein Stenosis: Clinicopathologic Analysis of 213 Samples From 97 Patients.
Kovach AE, Magcalas PM, Ireland C, McEnany K, Oliveira AM, Kieran MW, Baird CW, Jenkins K, Vargas SO
Am J Surg Pathol 2017 Sep;41(9):1198-1204. doi: 10.1097/PAS.0000000000000892. PMID: 28622179

Diagnosis

Aneurysmal Bone Cyst of the Orbit With USP6 Gene Rearrangement.
Phan T, Tong J, Krivanek M, Graf N, Dexter M, Tumuluri K
Ophthalmic Plast Reconstr Surg 2023 May-Jun 01;39(3):206-210. Epub 2022 Oct 20 doi: 10.1097/IOP.0000000000002287. PMID: 36356178
USP6 rearrangement in pediatric nodular fasciitis.
Sennett R, Friedlander S, Tucker S, Hinds B, Hightower G
J Cutan Pathol 2022 Aug;49(8):743-746. Epub 2022 Apr 28 doi: 10.1111/cup.14237. PMID: 35362105
Benign infiltrative myofibroblastic neoplasms of childhood with USP6 gene rearrangement.
Malik F, Wang L, Yu Z, Edelman MC, Miles L, Clay MR, Hedges D, Brennan RC, Nichols KE, Beth McCarville M, Bahrami A
Histopathology 2020 Nov;77(5):760-768. Epub 2020 Sep 12 doi: 10.1111/his.14182. PMID: 32583473
Novel ASAP1-USP6, FAT1-USP6, SAR1A-USP6, and TNC-USP6 fusions in primary aneurysmal bone cyst.
Šekoranja D, Zupan A, Mavčič B, Martinčič D, Salapura V, Snoj Ž, Limpel Novak AK, Pižem J
Genes Chromosomes Cancer 2020 Jun;59(6):357-365. Epub 2020 Feb 8 doi: 10.1002/gcc.22836. PMID: 32011035
USP6 gene rearrangement in nodular fasciitis and histological mimics.
Shin C, Low I, Ng D, Oei P, Miles C, Symmans P
Histopathology 2016 Nov;69(5):784-791. Epub 2016 Aug 16 doi: 10.1111/his.13011. PMID: 27271298

Therapy

Response of an aggressive periosteal aneurysmal bone cyst (ABC) of the radius to denosumab therapy.
Pauli C, Fuchs B, Pfirrmann C, Bridge JA, Hofer S, Bode B
World J Surg Oncol 2014 Jan 20;12:17. doi: 10.1186/1477-7819-12-17. PMID: 24438319Free PMC Article

Prognosis

Validation of Fluorescence in situ Hybridization Testing of USP6 Gene Rearrangement for Diagnosis of Primary Aneurysmal Bone Cyst.
Li L, Bui MM, Zhang M, Sun X, Han G, Zhang T, Huang X, Ding Y
Ann Clin Lab Sci 2019 Sep;49(5):590-597. PMID: 31611201
USP6 gene rearrangement differentiates primary paranasal sinus solid aneurysmal bone cyst from other giant cell-rich lesions: report of a rare case.
Li HR, Tai CF, Huang HY, Jin YT, Chen YT, Yang SF
Hum Pathol 2018 Jun;76:117-121. Epub 2017 Dec 5 doi: 10.1016/j.humpath.2017.11.018. PMID: 29217425
Paucicellular Fibrointimal Proliferation Characterizes Pediatric Pulmonary Vein Stenosis: Clinicopathologic Analysis of 213 Samples From 97 Patients.
Kovach AE, Magcalas PM, Ireland C, McEnany K, Oliveira AM, Kieran MW, Baird CW, Jenkins K, Vargas SO
Am J Surg Pathol 2017 Sep;41(9):1198-1204. doi: 10.1097/PAS.0000000000000892. PMID: 28622179
USP6 gene rearrangement in nodular fasciitis and histological mimics.
Shin C, Low I, Ng D, Oei P, Miles C, Symmans P
Histopathology 2016 Nov;69(5):784-791. Epub 2016 Aug 16 doi: 10.1111/his.13011. PMID: 27271298
Response of an aggressive periosteal aneurysmal bone cyst (ABC) of the radius to denosumab therapy.
Pauli C, Fuchs B, Pfirrmann C, Bridge JA, Hofer S, Bode B
World J Surg Oncol 2014 Jan 20;12:17. doi: 10.1186/1477-7819-12-17. PMID: 24438319Free PMC Article

Clinical prediction guides

Infantile Cranial Fasciitis: A Clinicopathologic Evaluation.
Cao J, Yang G, Chen Y, Wang Y, Shan Y, Xu S, Liu Y, Feng X, Liu S
J Craniofac Surg 2023 Jun 1;34(4):1226-1230. Epub 2023 Mar 6 doi: 10.1097/SCS.0000000000009234. PMID: 36872515Free PMC Article
Benign infiltrative myofibroblastic neoplasms of childhood with USP6 gene rearrangement.
Malik F, Wang L, Yu Z, Edelman MC, Miles L, Clay MR, Hedges D, Brennan RC, Nichols KE, Beth McCarville M, Bahrami A
Histopathology 2020 Nov;77(5):760-768. Epub 2020 Sep 12 doi: 10.1111/his.14182. PMID: 32583473
Validation of Fluorescence in situ Hybridization Testing of USP6 Gene Rearrangement for Diagnosis of Primary Aneurysmal Bone Cyst.
Li L, Bui MM, Zhang M, Sun X, Han G, Zhang T, Huang X, Ding Y
Ann Clin Lab Sci 2019 Sep;49(5):590-597. PMID: 31611201
Soft tissue aneurysmal bone cyst: six new cases with imaging details, molecular pathology, and review of the literature.
Song W, Suurmeijer AJH, Bollen SM, Cleton-Jansen AM, Bovée JVMG, Kroon HM
Skeletal Radiol 2019 Jul;48(7):1059-1067. Epub 2019 Jan 2 doi: 10.1007/s00256-018-3135-x. PMID: 30603771
USP6 gene rearrangement in nodular fasciitis and histological mimics.
Shin C, Low I, Ng D, Oei P, Miles C, Symmans P
Histopathology 2016 Nov;69(5):784-791. Epub 2016 Aug 16 doi: 10.1111/his.13011. PMID: 27271298

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