PMID- 21173122
OWN - NLM
STAT- MEDLINE
DCOM- 20110120
LR  - 20220812
IS  - 1943-7722 (Electronic)
IS  - 0002-9173 (Print)
IS  - 0002-9173 (Linking)
VI  - 135
IP  - 1
DP  - 2011 Jan
TI  - Acute myeloid leukemia with IDH1 or IDH2 mutation: frequency and 
      clinicopathologic features.
PG  - 35-45
LID - 10.1309/AJCPD7NR2RMNQDVF [doi]
AB  - Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are reported in 
      acute myeloid leukemia (AML). We studied the frequency and the clinicopathologic 
      features of IDH1 and IDH2 mutations in AML. Mutations in IDH1 (IDH1(R)(1)(3)(2)) and 
      IDH2 (IDH2(R)(1)(7)(2)) were assessed by Sanger sequencing in 199 AML cases. Point 
      mutations in IDH1(R)(1)(3)(2) were detected in 12 (6.0%) of 199 cases and in IDH2(R)(1)(7)(2) 
      in 4 (2.0%) of 196 cases. Of the 16 mutated cases, 15 (94%) were cytogenetically 
      normal, for an overall frequency in this group of 11.8%. IDH1(R)(1)(3)(2) and 
      IDH2(R)(1)(7)(2) mutations were mutually exclusive. Concurrent mutations in NPM1, FLT3, 
      CEBPA, and NRAS were detected only in AML with the IDH1(R)(1)(3)(2) mutation. The 
      clinical and laboratory variables of patients with AML with IDH mutations showed 
      no significant differences compared with patients with wild-type IDH. We conclude 
      that IDH1(R)(1)(3)(2) and IDH2(R)(1)(7)(2) mutations occur most often in cytogenetically 
      normal AML cases with an overall frequency of approximately 11.8%.
FAU - Patel, Keyur P
AU  - Patel KP
AD  - Dept of Hematopathology, The University of Texas M.D. Anderson Cancer Center, 
      Houston, 77030, USA.
FAU - Ravandi, Farhad
AU  - Ravandi F
FAU - Ma, Deqin
AU  - Ma D
FAU - Paladugu, Abhaya
AU  - Paladugu A
FAU - Barkoh, Bedia A
AU  - Barkoh BA
FAU - Medeiros, L Jeffrey
AU  - Medeiros LJ
FAU - Luthra, Rajyalakshmi
AU  - Luthra R
LA  - eng
GR  - P30 CA016672/CA/NCI NIH HHS/United States
PT  - Journal Article
PL  - England
TA  - Am J Clin Pathol
JT  - American journal of clinical pathology
JID - 0370470
RN  - 0 (DNA, Neoplasm)
RN  - 0 (NPM1 protein, human)
RN  - 117896-08-9 (Nucleophosmin)
RN  - EC 1.1.1.41 (IDH2 protein, human)
RN  - EC 1.1.1.41 (Isocitrate Dehydrogenase)
RN  - EC 1.1.1.42. (IDH1 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Bone Marrow Cells/chemistry/pathology
MH  - DNA Mutational Analysis
MH  - DNA, Neoplasm/analysis
MH  - Female
MH  - Humans
MH  - Isocitrate Dehydrogenase/*genetics
MH  - Leukemia, Myeloid, Acute/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Nucleophosmin
MH  - Young Adult
PMC - PMC5465954
MID - NIHMS860806
COIS- Disclosure/Conflict of Interest The authors do not have any conflicts of 
      interests to disclose.
EDAT- 2010/12/22 06:00
MHDA- 2011/01/21 06:00
PMCR- 2017/06/09
CRDT- 2010/12/22 06:00
PHST- 2010/12/22 06:00 [entrez]
PHST- 2010/12/22 06:00 [pubmed]
PHST- 2011/01/21 06:00 [medline]
PHST- 2017/06/09 00:00 [pmc-release]
AID - 135/1/35 [pii]
AID - 10.1309/AJCPD7NR2RMNQDVF [doi]
PST - ppublish
SO  - Am J Clin Pathol. 2011 Jan;135(1):35-45. doi: 10.1309/AJCPD7NR2RMNQDVF.