Literature DB >> 30046846

[H3F3A mutated multicentric giant cell tumor of bone : A very rare primary bone disease].

J P Giesche1, A von Baer2, T Breining3, R Marienfeld1, K Mellert1, J Lüke1, M Schultheiss2, P Möller1, T F E Barth4.   

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.

Entities:  

Keywords:  Bone tumor; Giant cell rich lesion; Giant cell tumor of bone; H3F3A mutation; Multicentric

Mesh：

Substances：

Year:  2018        PMID： 30046846     DOI： 10.1007/s00292-018-0460-8

Source DB:  PubMed          Journal:  Pathologe        ISSN： 0172-8113            Impact factor:   1.011


  17 in total

1.  Metachronous multicentric giant cell tumour in a young woman.

Authors:  Raju Vaishya; Amit Kumar Agarwal; Vipul Vijay; Abhishek Vaish
Journal:  BMJ Case Rep       Date:  2015-05-15

2.  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.

Authors:  Julian Lüke; Alexandra von Baer; Jordan Schreiber; Christoph Lübbehüsen; Thomas Breining; Kevin Mellert; Ralf Marienfeld; Markus Schultheiss; Peter Möller; Thomas F E Barth
Journal:  Histopathology       Date:  2017-04-10       Impact factor: 5.087

3.  Denosumab induces tumor reduction and bone formation in patients with giant-cell tumor of bone.

Authors:  Daniel G Branstetter; Scott D Nelson; J Carlos Manivel; Jean-Yves Blay; Sant Chawla; David M Thomas; Susie Jun; Ira Jacobs
Journal:  Clin Cancer Res       Date:  2012-06-18       Impact factor: 12.531

Review 4.  A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Authors:  Noralane M Lindor; Lucia Guidugli; Xianshu Wang; Maxime P Vallée; Alvaro N A Monteiro; Sean Tavtigian; David E Goldgar; Fergus J Couch
Journal:  Hum Mutat       Date:  2011-11-03       Impact factor: 4.878

5.  Multicentric giant cell tumor of bone: ten lesions at presentation.

Authors:  Il-Hyung Park; In-Ho Jeon
Journal:  Skeletal Radiol       Date:  2003-07-22       Impact factor: 2.199

6.  Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

Authors:  Sam Behjati; Patrick S Tarpey; Nadège Presneau; Susanne Scheipl; Nischalan Pillay; Peter Van Loo; David C Wedge; Susanna L Cooke; Gunes Gundem; Helen Davies; Serena Nik-Zainal; Sancha Martin; Stuart McLaren; Victoria Goodie; Ben Robinson; Adam Butler; Jon W Teague; Dina Halai; Bhavisha Khatri; Ola Myklebost; Daniel Baumhoer; Gernot Jundt; Rifat Hamoudi; Roberto Tirabosco; M Fernanda Amary; P Andrew Futreal; Michael R Stratton; Peter J Campbell; Adrienne M Flanagan
Journal:  Nat Genet       Date:  2013-10-27       Impact factor: 38.330

7.  Giant-cell tumor of the distal forearm.

Authors:  Neil G Harness; Henry J Mankin
Journal:  J Hand Surg Am       Date:  2004-03       Impact factor: 2.230

Review 8.  Pulmonary metastasis of giant cell tumor of bones.

Authors:  Aikeremujiang Muheremu; Xiaohui Niu
Journal:  World J Surg Oncol       Date:  2014-08-20       Impact factor: 2.754

9.  Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Authors:  Nadège Presneau; Daniel Baumhoer; Sam Behjati; Nischalan Pillay; Patrick Tarpey; Peter J Campbell; Gernot Jundt; Rifat Hamoudi; David C Wedge; Peter Van Loo; A Bassim Hassan; Bhavisha Khatri; Hongtao Ye; Roberto Tirabosco; M Fernanda Amary; Adrienne M Flanagan
Journal:  J Pathol Clin Res       Date:  2015-03-16

10.  Multifocal metachronous giant cell tumor: case report and review of the literature.

Authors:  B Ghostine; A Sebaaly; I Ghanem
Journal:  Case Rep Med       Date:  2014-01-05
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.