Acute Myeloid Leukemia With IDH1 or IDH2 Mutation: Frequency and Clinicopathologic Features

Keyur P PATEL; Farhad RAVANDI; Deqin Ma; Abhaya PALADUGU; Bedia A BARKOH; L. Jeffrey MEDEIROS; Rajyalakshmi LUTHRA

doi:10.1309/AJCPD7NR2RMNQDVF

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Acute Myeloid Leukemia With IDH1 or IDH2 Mutation: Frequency and Clinicopathologic Features

Journal article

Open access

Peer reviewed

Acute Myeloid Leukemia With IDH1 or IDH2 Mutation: Frequency and Clinicopathologic Features

Keyur P PATEL, Farhad RAVANDI, Deqin Ma, Abhaya PALADUGU, Bedia A BARKOH, L. Jeffrey MEDEIROS and Rajyalakshmi LUTHRA

American journal of clinical pathology, Vol.135(1), pp.35-45

2011

DOI: 10.1309/AJCPD7NR2RMNQDVF

PMID: 21173122

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Abstract

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 (IDH1R132) and IDH2 (IDH2R172) were assessed by Sanger sequencing in 199 AML cases. Point mutations in IDH1R132 were detected in 12 (6.0%) of 199 cases and in IDH2R172 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%. IDH1R132 and IDH2R172 mutations were mutually exclusive. Concurrent mutations in NPM1, FLT3, CEBPA, and NRAS were detected only in AML with the IDH1R132 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 IDH1R132 and IDH2R172 mutations occur most often in cytogenetically normal AML cases with an overall frequency of approximately 11.8%.

Hematologic and hematopoietic diseases

Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis

Biological and medical sciences

Investigative techniques, diagnostic techniques (general aspects)

Medical sciences

Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques

Details

Title: Subtitle: Acute Myeloid Leukemia With IDH1 or IDH2 Mutation: Frequency and Clinicopathologic Features
Creators: Keyur P PATEL - Department of Hematopathology, University of Texas MD. Anderson Cancer Center, Houston, United States
Farhad RAVANDI - Department of Leukemia, University of Texas MD. Anderson Cancer Center, Houston, United States
Deqin Ma - Department of Hematopathology, University of Texas MD. Anderson Cancer Center, Houston, United States
Abhaya PALADUGU - Department of Hematopathology, University of Texas MD. Anderson Cancer Center, Houston, United States
Bedia A BARKOH - Department of Hematopathology, University of Texas MD. Anderson Cancer Center, Houston, United States
L. Jeffrey MEDEIROS - Department of Hematopathology, University of Texas MD. Anderson Cancer Center, Houston, United States
Rajyalakshmi LUTHRA - Department of Hematopathology, University of Texas MD. Anderson Cancer Center, Houston, United States
Resource Type: Journal article
Publication Details: American journal of clinical pathology, Vol.135(1), pp.35-45
Publisher: American Society of Clinical Pathologists; Chicago, IL
DOI: 10.1309/AJCPD7NR2RMNQDVF
PMID: 21173122
ISSN: 0002-9173
eISSN: 1943-7722
Language: English
Date published: 2011
Academic Unit: Pathology
Record Identifier: 9984047642502771

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