Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria.
Department of Pathology, Queen Elizabeth II Hospital, Grande Prairie, AB, Canada.
Am J Surg Pathol. 2020 Jun;44(6):748-756. doi: 10.1097/PAS.0000000000001446.
Giant cell tumor of bone (GCT) is a benign locally aggressive neoplasm composed of mononuclear cells admixed with innumerable osteoclast-type giant cells. H3F3A gene mutations producing mutant histone protein product H3.3 have been identified in 96% of GCT; mutant H3.3 is reliably demonstrated by immunohistochemistry. GCT may contain woven bone and rarely, neoplastic cartilage nodules which causes diagnostic challenges with aggressive neoplasms such as osteosarcoma. We describe the features of GCT with cartilage matrix and report the next-generation sequencing findings in a subset of tumors. Seventeen cases of GCT with cartilage matrix form the cohort: 7 males and 10 females, 13 to 55 (mean: 25) years old. Tumors involved the fibula (6), femur (6), and patella, tibia, humerus, S1, and scapula (1 case each). Tumors were radiolucent, circumscribed, lytic, and expansile. All contained classic GCT, foci of cartilage matrix, and trabeculae of woven bone. Immunohistochemistry showed diffuse staining for H3.3 in 9/9 cases and 1 case was positive for S100 and SOX9 in the cartilage areas. Next-generation sequencing showed a mutation in the H3F3A gene in 6/6 cases. On follow-up, 2 patients who underwent resection showed no disease after 12, and 7 months, respectively. Three patients had recurrences 10, 12, and 27 months after curettage; there were no metastases. GCT with cartilage matrix is uncommon. The cartilage matrix is associated with woven bone suggesting the neoplastic cells may differentiate into chondrocyte-like and osteoblast-like cells. Recognition of this neoplasm is important to prevent misdiagnosis and overtreatment of affected patients.
骨巨细胞瘤(GCT)是一种良性局部侵袭性肿瘤,由单核细胞混合无数破骨细胞样巨细胞组成。96%的 GCT 中发现了 H3F3A 基因突变,产生突变组蛋白 H3.3 产物;免疫组化可靠地显示突变 H3.3。GCT 可能含有编织骨,很少有肿瘤性软骨结节,这给骨肉瘤等侵袭性肿瘤的诊断带来了挑战。我们描述了具有软骨基质的 GCT 的特征,并报告了一组肿瘤的下一代测序结果。该队列包括 17 例具有软骨基质的 GCT:7 名男性和 10 名女性,年龄 13 至 55 岁(平均 25 岁)。肿瘤累及腓骨(6 例)、股骨(6 例)、髌骨、胫骨、肱骨、S1 和肩胛骨(各 1 例)。肿瘤为透亮性、边界清楚、溶骨性和膨胀性。所有肿瘤均包含典型的 GCT、软骨基质灶和编织骨小梁。免疫组化显示 9/9 例弥漫性 H3.3 染色,1 例软骨区 S100 和 SOX9 阳性。下一代测序显示 6/6 例 H3F3A 基因突变。随访时,2 例接受切除术的患者分别在 12 个月和 7 个月后无疾病。3 例患者在刮除后 10、12 和 27 个月复发;无转移。具有软骨基质的 GCT 并不常见。软骨基质与编织骨相关,提示肿瘤细胞可能分化为软骨细胞样和成骨细胞样细胞。认识到这种肿瘤对于防止受影响患者的误诊和过度治疗很重要。