|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Examples include giant cell tumour of bone (H3F3A p.G34W), chondroblastoma (H3F3B p.K36M), mesenchymal chondrosarcoma (HEY1-NCOA2), chondromyxoid fibroma (GRM1 rearrangements), aneurysmal bone cyst (USP6 rearrangements), osteoblastoma/osteoid osteoma (FOS/FOSB rearrangements), and synovial chondromatosis (FN1-ACVR2A and ACVR2A-FN1).
|
30582658 |
2019 |
|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
H3 histone family member 3A (H3F3A) (G34W/V/R/L) mutations are present in the majority of giant cell tumors (GCTs) of bone and H3 histone family member 3B (H3F3B) (K36M) mutations are present in nearly all chondroblastomas, but are absent in histologic mimics.
|
29757500 |
2018 |
|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Although more than 90% of GCTBs present histone 3.3 variants exclusively in the H3F3A gene, chondroblastoma is mutated mainly in H3F3B.
|
28899740 |
2017 |
|
Chondroblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
We used the antibody for analysis of 22 H3F3A-mutated GCTB, including two patients with recurrences; for comparison we analysed a cohort of 36 H3F3A wild-type giant cell-rich lesions of the bone and soft tissue, containing one brown tumour, six aneurysmal bone cysts (ABC), six chondroblastomas, five non-ossifying-fibromas, two fibrous dysplasias, nine tenosynovial giant cell tumours, one giant cell-rich sarcoma and six osteosarcomas.
|
28211081 |
2017 |
|
Chondroblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
H3F3A and H3F3B were found in 85% of giant cell tumors of the bone and 88% of chondroblastomas.
|
28059095 |
2017 |
|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have identified a somatic and heterozygous mutation at the H3F3B gene in over 90% chondroblastoma cases, leading to a lysine 36 to methionine replacement (H3.3K36M).
|
28129023 |
2017 |
|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
One thousand eight hundred and ninety-four tumours, including 85 chondroblastomas and 10 clear-cell chondrosarcomas, were studied; of these, 82 chondroblastomas and one clear-cell chondrosarcoma known to harbour the H3F3 p.K36M mutation expressed the mutated protein.
|
26844533 |
2016 |
|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Our results show that H3F3A and H3F3B mutation analysis appears to be a highly specific, although less sensitive, diagnostic tool for the distinction of GCTB and chondroblastoma from other giant cell-containing tumors.
|
26457357 |
2015 |
|
Chondroblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
In 73 of 77 cases of chondroblastoma (95%), we found p.Lys36Met alterations predominantly encoded in H3F3B, which is one of two genes for histone H3.3.
|
24162739 |
2013 |