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Symplastic/pseudoanaplastic giant cell tumor of the bone

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Abstract

Objective

Giant cell tumor of bone (GCTB) is a locally aggressive primary bone tumor. Its malignant counterpart is quite rare. Rarely, a conventional GCTB shows marked nuclear atypia, referred to as symplastic/pseudoanaplastic change, which can mimic sarcomatous transformation. Recently, somatic driver mutations of histone H3.3 exclusively in H3F3A have been described in GCTB. We report a series of 9 cases of GCTB with symplastic/pseudoanaplastic change, along with analysis of H3F3A variants.

Materials and methods

Nine cases of GCTB with symplastic change were identified. Clinico-radiological features, morphological features, and immunohistochemical stain for Ki-67 stain were reviewed. H3F3A variants were also analyzed using Sanger sequencing.

Results

Histologically, conventional giant cell tumor areas with scattered foci of markedly atypical cells were seen in all of the cases and all showed rare if any Ki-67 labeling. One patient had received denosumab treatment and another radiation therapy. Radiological features were characteristic of conventional GCTB. Mutation in H3F3A (p.Gly34Trp [G34W]) was found in 6 of the 7 cases. Clinical follow-up ranged from 6 to 208 months. Local recurrences were seen in 4 cases (44 %).

Conclusions

GCTB with symplastic/pseudoanaplastic change is an uncommon variant of conventional GCTB, which can mimic primary sarcoma or sarcomatous transformation. These tumors possess the same missense mutation in histone H3.3 as conventional GCTB.

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Authors and Affiliations

  1. Department of Pathology, Memorial Sloan Kettering Cancer Center (MSKCC), 1275 York Avenue, New York, NY, 10065, USA

    Judy Sarungbam, Narasimhan Agaram, Lu Wang & Meera Hameed

  2. Department of Radiology, Memorial Sloan Kettering Cancer Center (MSKCC), 1275 York Avenue, New York, NY, 10065, USA

    Sinchun Hwang

  3. Laboratory of Chromatin Biology and Epigenetics, Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA

    Chao Lu

  4. Department of Orthopedics, Memorial Sloan Kettering Cancer Center (MSKCC), 1275 York Avenue, New York, NY, 10065, USA

    John Healey

Authors
  1. Judy Sarungbam
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  2. Narasimhan Agaram
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  3. Sinchun Hwang
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  4. Chao Lu
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  5. Lu Wang
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Correspondence to Judy Sarungbam.

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Conflict of interest

The authors declare that they have no conflicts of interest.

Funding disclosure

Chao Lu is the Kandarian Family Fellow supported by the Damon Runyon Cancer Research Foundation (DRG-2195-14).

IRB approval

The approval number is WA0151-13(1).

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Sarungbam, J., Agaram, N., Hwang, S. et al. Symplastic/pseudoanaplastic giant cell tumor of the bone. Skeletal Radiol 45, 929–935 (2016). https://doi.org/10.1007/s00256-016-2373-z

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  • DOI: https://doi.org/10.1007/s00256-016-2373-z

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