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H3F3A-mutierter multifokaler Riesenzelltumor des Knochens

Eine äußerst seltene primär ossäre Erkrankung

H3F3A mutated multicentric giant cell tumor of bone

A very rare primary bone disease

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Zusammenfassung

Es wird über einen metachronen multifokalen Riesenzelltumor des Knochens (RZTK) berichtet. Der Patient bekam im Alter von 47 Jahren die Erstdiagnose eines RZTK im linken Oberarmknochen. Im Laufe seiner Krankengeschichte wurde ein weiterer RZTK im Kopf des vierten linken Mittelhandknochens und ein dortiges Lokalrezidiv nachgewiesen. Alle Tumorlokalisationen besaßen die für RZTK charakteristische H3F3A-Mutation G34W, die mittels Sanger-Sequenzierung und einem mutationsspezifischen Antikörper detektiert wurde. Der Fall stellt die Erstbeschreibung eines multifokalen H3F3A-mutierten RZTK dar.

Abstract

This article presents the case of a metachronic multicentric giant cell tumor of bone (GCTB). The patient obtained his first diagnosis of GCTB in the left humerus at the age of 47 years. Furthermore, he suffered from a GCTB in the head of his 4th left metacarpal bone and from a recurrence of the latter. All tumors carried the characteristic H3F3A mutation, which was proven by Sanger sequencing and a mutation specific antibody. The case is the first description of a multicentric H3F3A mutated GCTB.

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Abbreviations

EHM:

Epicondylus humeri medialis

MHK:

Mittelhandknochen

MRZTK:

Multifokaler Riesenzelltumor des Knochens

NGS:

„Next-Generation Sequencing“

RANKL:

„Receptor Activator of NF-κB Ligand“

RZTK:

Riesenzelltumor des Knochens

Literatur

  1. Behjati S, Tarpey PS, Presneau N et al (2013) Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nat Genet 45:1479–1482

    Article  PubMed  CAS  Google Scholar 

  2. Branstetter DG, Nelson SD, Manivel JC et al (2012) Denosumab induces tumor reduction and bone formation in patients with giant-cell tumor of bone. Clin Cancer Res 18:4415–4424

    Article  PubMed  CAS  Google Scholar 

  3. Broehm CJ, Garbrecht EL, Wood J et al (2015) Two cases of sarcoma arising in giant cell tumor of bone treated with denosumab. Case Rep Med. https://doi.org/10.1155/2015/767198

    Article  PubMed  PubMed Central  Google Scholar 

  4. Dhillon MS, Prasad P (2007) Multicentric giant cell tumour of bone. Acta Orthop Belg 73:289–299

    PubMed  Google Scholar 

  5. Ghostine B, Sebaaly A, Ghanem I (2014) Multifocal metachronous giant cell tumor: case report and review of the literature. Case Rep Med. https://doi.org/10.1155/2014/678035

    Article  PubMed  PubMed Central  Google Scholar 

  6. Harness NG, Mankin HJ (2004) Giant-cell tumor of the distal forearm. J Hand Surg Am 29:188–193

    Article  PubMed  Google Scholar 

  7. Hoch B, Inwards C, Sundaram M et al (2006) Multicentric giant cell tumor of bone. Clinicopathologic analysis of thirty cases. J Bone Joint Surg Am 88:1998–2008

    PubMed  Google Scholar 

  8. Pal JN, Roy AN, Bera AK (2018) Metachronous multicentric recurrent giant cell tumour of metacarpals: a case report. MOJ Orthop Rheumatol. https://doi.org/10.15406/mojor.2018.10.00377

    Article  Google Scholar 

  9. Lindor NM, Guidugli L, Wang X et al (2012) A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat 33:8–21

    Article  PubMed  CAS  Google Scholar 

  10. Lodwick GS, Wilson AJ, Farrell C et al (1980) Determining growth rates of focal lesions of bone from radiographs. Radiology 134:577–583

    Article  PubMed  CAS  Google Scholar 

  11. Lüke J, Hasenfratz M, Moller P et al (2017) New aspects on giant cell tumor of bone. Pathologe 39(2):125. https://doi.org/10.1007/s00292-017-0391-9

    Article  Google Scholar 

  12. Lüke J, Von Baer A, Schreiber J et al (2017) H3F3A mutation in giant cell tumour of the bone is detected by immunohistochemistry using a monoclonal antibody against the G34W mutated site of the histone H3.3 variant. Histopathology 71:125–133

    Article  PubMed  Google Scholar 

  13. Muheremu A, Niu X (2014) Pulmonary metastasis of giant cell tumor of bones. World J Surg Oncol 12:261

    Article  PubMed  PubMed Central  Google Scholar 

  14. Novais EN, Shin AY, Bishop AT et al (2011) Multicentric giant cell tumor of the upper extremities: 16 years of ongoing disease. J Hand Surg Am 36:1610–1613

    Article  PubMed  Google Scholar 

  15. Park IH, Jeon IH (2003) Multicentric giant cell tumor of bone: ten lesions at presentation. Skeletal Radiol 32:526–529

    Article  PubMed  Google Scholar 

  16. Presneau N, Baumhoer D, Behjati S et al (2015) Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics. J Pathol Clin Res 1:113–123

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  17. Tandra VS, Kotha KM, Satyanarayana MG et al (2015) Synchronous multicentric giant cell tumour of distal radius and sacrum with pulmonary metastases. Case Rep Oncol Med. https://doi.org/10.1155/2015/354158

    Article  PubMed  PubMed Central  Google Scholar 

  18. Vaishya R, Agarwal AK, Vijay V et al (2015) Metachronous multicentric giant cell tumour in a young woman. BMJ Case Rep. https://doi.org/10.1136/bcr-2015-209368

    Article  PubMed  PubMed Central  Google Scholar 

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Danksagung

Ein besonders herzlicher Dank gilt Juliane Nell, Elena Moser und Nina Ushmorova für die exzellente technische Unterstützung.

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Authors and Affiliations

  1. Institut für Pathologie, Universitätsklinikum Ulm, Albert-Einstein-Allee 23, 89081, Ulm, Deutschland

    J. P. Giesche, R. Marienfeld, K. Mellert, J. Lüke, P. Möller &  T. F. E. Barth

  2. Klinik für Unfall‑, Hand‑, Plastische und Wiederherstellungschirurgie, Universitätsklinikum Ulm, Ulm, Deutschland

    A. von Baer & M. Schultheiss

  3. Klinik für Diagnostische und Interventionelle Radiologie, Universitätsklinikum Ulm, Ulm, Deutschland

    T. Breining

Authors
  1. J. P. Giesche
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  2. A. von Baer
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  3. T. Breining
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  4. R. Marienfeld
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  5. K. Mellert
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  6. J. Lüke
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  7. M. Schultheiss
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  8. P. Möller
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  9. T. F. E. Barth
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Correspondence to T. F. E. Barth.

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Interessenkonflikt

J. P. Giesche, A. von Baer, T. Breining, R. Marienfeld, K. Mellert, J. Lüke, M. Schultheiss, P. Möller und T. F. E. Barth geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren. Für Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, über die Patienten zu identifizieren sind, liegt von ihnen und/oder ihren gesetzlichen Vertretern eine schriftliche Einwilligung vor.

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H. A. Baba, Essen

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Giesche, J.P., von Baer, A., Breining, T. et al. H3F3A-mutierter multifokaler Riesenzelltumor des Knochens. Pathologe 39, 451–456 (2018). https://doi.org/10.1007/s00292-018-0460-8

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