Giant Cell Tumor of Bone With Cartilage Matrix A Clinicopathologic Study of 17 Cases

被引:5
|
作者
Brcic, Iva [1 ]
Yamani, Feisal [2 ]
Inwards, Carrie Y. [3 ]
Sumathi, Vaiyapuri [4 ]
Dodd, Leslie [5 ]
Kreiger, Portia A. [6 ]
Sittampalam, Kesavan [7 ]
Allred, Ted R. [8 ]
Kashofer, Karl [1 ]
Liegl-Atzwanger, Bernadette [1 ]
Kerr, Darcy A. [9 ,10 ]
Nielsen, G. P. [11 ]
Rosenberg, Andrew E. [12 ]
机构
[1] Med Univ Graz, Diagnost & Res Inst Pathol, Graz, Austria
[2] Queen Elizabeth II Hosp, Dept Pathol, Grande Prairie, AB, Canada
[3] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
[4] Royal Orthopaed Hosp NHS Fdn Trust, Dept Musculoskeletal Pathol, Birmingham, W Midlands, England
[5] Univ N Carolina, Sch Med, Dept Pathol & Lab Med, Chapel Hill, NC 27515 USA
[6] Univ Pannsylvania, Perelman Sch Med, Childrens Hosp Philadelphia, Div Anat Pathol, Philadelphia, PA USA
[7] Singapore Gen Hosp, Dept Pathol, Singapore, Singapore
[8] Scottsdale Healthcare SHEA, Dept Pathol, Scottsdale, AZ USA
[9] Dartmouth Hitchcock Med Ctr, Dept Pathol, Lebanon, NH 03766 USA
[10] Geisel Sch Med Dartmouth, Hanover, NH USA
[11] Harvard Med Sch, Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02115 USA
[12] Univ Miami, Dept Pathol & Lab, Miami, FL 33136 USA
关键词
giant cell tumor of bone; cartilage; H3; 3; DIAGNOSTIC-VALUE; MUTATIONS; H3F3A; OSTEOBLASTOMA; G34W;
D O I
10.1097/PAS.0000000000001446
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:748 / 756
页数:9
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