Aneurysmal bone cyst with an unusual clinical presentation and a novel VDR-USP6 fusion
| Autor: | G. Petur Nielsen, Andre M. Oliveira, Miriam A. Bredella, Jochen K. Lennerz, David J. Papke, Santiago A. Lozano-Calderon |
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| Rok vydání: | 2021 |
| Předmět: |
Cancer Research
Pathology medicine.medical_specialty Benign Bone Neoplasm Bone Neoplasms Biology Malignancy Calcitriol receptor Fusion gene Proto-Oncogene Proteins Genetics medicine Humans Promoter Regions Genetic In Situ Hybridization Fluorescence Aged Gene Rearrangement medicine.diagnostic_test Soft tissue Aneurysmal bone cyst medicine.disease Bone Cysts Aneurysmal Receptors Calcitriol Female Presentation (obstetrics) Gene Fusion Ubiquitin Thiolesterase Fluorescence in situ hybridization |
| Zdroj: | Genes, chromosomescancerREFERENCES. 60(12) |
| ISSN: | 1098-2264 |
| Popis: | Aneurysmal bone cyst is a benign bone neoplasm that most commonly arises from the metaphyses of long bones in the first and second decades of life. Here, we describe a case of an aneurysmal bone cyst that occurred in the distal tibial diaphysis of a 72-year-old female that was concerning for malignancy on imaging, demonstrating cortical breakthrough and soft tissue extension. Histologically, the tumor showed the characteristic morphologic features of aneurysmal bone cyst. Fluorescence in situ hybridization was positive for USP6 rearrangement, and RNA sequencing revealed a USP6 gene fusion with VDR, a novel partner that encodes the vitamin D receptor and that has not been implicated previously in human neoplasia. This case highlights the diagnostic challenges presented by aneurysmal bone cyst in elderly adults, and it expands the genetic spectrum of USP6 rearrangements. This article is protected by copyright. All rights reserved. |
| Databáze: | OpenAIRE |
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