Department of Pathology, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts, USA.
Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Genes Chromosomes Cancer. 2021 Dec;60(12):833-836. doi: 10.1002/gcc.22989. Epub 2021 Aug 22.
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.
骨巨细胞瘤是一种良性骨肿瘤，最常发生在生命的第一个和第二个十年的长骨骨干。在这里，我们描述了一例发生在 72 岁女性胫骨远端骨干的骨巨细胞瘤，该患者的影像学表现令人担忧为恶性肿瘤，表现为皮质突破和软组织延伸。组织学上，肿瘤显示出典型的骨巨细胞瘤形态特征。荧光原位杂交显示 USP6 重排阳性，RNA 测序显示 USP6 基因与 VDR 融合，这是一种新的融合伙伴，编码维生素 D 受体，以前从未涉及人类肿瘤发生。该病例强调了老年人骨巨细胞瘤的诊断挑战，并扩展了 USP6 重排的遗传谱。
