关键词: bone molecular pathology soft tissue

Mesh : Humans Bone and Bones / pathology Bone Cysts, Aneurysmal Bone Neoplasms / diagnosis genetics metabolism Giant Cell Tumor of Bone / diagnosis genetics Giant Cells / pathology Keratins Neoplasms, Second Primary / pathology Nuclear Receptor Co-Repressor 2

来  源:   DOI:10.1177/10668969231185076

Abstract:
Giant cell-rich lesions of bone represent a heterogeneous group of entities which classically include giant cell tumor of bone, aneurysmal bone cyst, nonossifying fibroma, and Brown tumor of hyperparathyroidism. A recently described subset of giant cell-rich tumors involving bone and soft tissue has been characterized by recurrent HMGA2::NCOR2 fusions and keratin expression. The overlapping clinical, radiographic, and morphological features of these giant cell-rich lesions provide a unique diagnostic challenge, particularly on biopsy. We present 2 additional cases of keratin-positive giant cell-rich tumor of bone with HMGA2::NCOR2 fusions, including 1 patient who developed metastatic disease.
摘要:
富含巨细胞的骨病变代表一组异质性实体,通常包括骨巨细胞瘤,动脉瘤样骨囊肿,非骨化性纤维瘤,和甲状旁腺功能亢进的棕色肿瘤。最近描述的涉及骨骼和软组织的富含巨细胞的肿瘤子集的特征在于复发性HMGA2::NCOR2融合和角蛋白表达。重叠的临床,射线照相,这些富含巨细胞的病变的形态学特征提供了独特的诊断挑战,特别是活检。我们提出了另外2例角蛋白阳性骨巨细胞富集肿瘤与HMGA2::NCOR2融合,包括1例发展为转移性疾病的患者。
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