E255K and G250E mutation appearing in a patient with e19a2 chronic myeloid leukemia resistant to imatinib.

Abstract

BACKGROUND:

Chronic myeloid leukemia (CML) with the e19a2 transcript coding for p230 is a rare disease. ABL1 kinase domain mutations in CML with the e19a2 rearrangement were seldom reported.

METHODS:

The clinical characteristics of a 45-year-old Chinese female CML patient with e19a2 BCR/ABL1 transcript were described. The mutation on the ABL gene exons was determined by sequencing the cDNA of the μ-BCR-ABL fusion product.

RESULTS:

This patient developed an acquired resistance associated with two p-BCR/ABL1 mutations (E255K and G250E) during treatment with imatinib.

CONCLUSIONS:

Here, we report a CML patient with e19a2 transcripts, carrying E255K and G250E mutation and experience of nilotinib treatment. The μ-BCR/ABL1 mutation should be investigated after imatinib treatment failure.

• Authors: Chunrui Li, Ying Wang, Danmei Xu, Ping Zhang, Xiaoyi Ding, Na Zhang, Min Xiao, Liang Huang, Li Meng
• Journal: Clinical laboratory (Clin Lab) Vol. 61 Issue 1-2 Pg. 183-6 ( 2015) ISSN: 1433-6510 [Print] Germany
• PMID: 25807654 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antineoplastic Agents
• BCR-ABL1 fusion protein, human
• Benzamides
• Piperazines
• Pyrimidines
• Imatinib Mesylate
• Fusion Proteins, bcr-abl

Topics

• Antineoplastic Agents (therapeutic use)
• Benzamides (therapeutic use)
• DNA Mutational Analysis
• Drug Resistance, Neoplasm (genetics)
• Female
• Fusion Proteins, bcr-abl (genetics)
• Humans
• Imatinib Mesylate
• Leukemia, Myelogenous, Chronic, BCR-ABL Positive (drug therapy, genetics)
• Middle Aged
• Piperazines (therapeutic use)
• Pyrimidines (therapeutic use)