Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.1.1.41 (
isocitrate dehydrogenase
)
3,101
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Periosteal chondroma
is a benign cartilage tumor that accounts for <2% of chondromas. In the present study, four cases of periosteal chondromas were cytogenetically investigated and studied for the expression of high-mobility group AT-hook 2 (
HMGA2
), mutations in codons 132 of
isocitrate dehydrogenase
(
IDH
)1 and 172 of
IDH2
; mutations -C228T and -C250T in the promoter region of telomerase reverse transcriptase (
TERT
); and for methylation in the promoter regions of
O
-6-methylguanine-DNA methyltransferase (
MGMT
) and cellular retinol binding protein 1 (
CRBP1
). Chromosome aberrations of 12q13-15 were found in two out of the four tumors, while two had a normal karyotype. Two periosteal chondromas carried the mutation IDH1R132C (CGT>TGT), and two carried the mutation IDH1R132L (CGT>CTT). However, none of the four tumors had methylated
MGMT
and
CRBP1
promoters or mutations at codon 172 of
IDH2
. In addition, -C228T and -C250T mutations were not present in the promoter region of
TERT
, nor was
HMGA2
demonstrated to be expressed. The present study indicated that in periosteal chondromas, the involvement of 12q13-15 in structural rearrangements may be recurrent but that
HMGA2
is not expressed. Additionally, the periosteal chondromas investigated in the study carried a heterozygous IDH1R132 mutation, the
MGMT
and
CRBP1
promoters were not methylated, and -C228T and -C250T mutations in the promoter region of
TERT
were absent.
...
PMID:Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas. 2617 Sep 93
