t(4;22) (q12;q11.2) involving presumptive platelet-derived growth factor receptor A and break cluster region in a patient with mixed phenotype acute leukemia

被引:5
作者
Wang, Huan-You [1 ]
Thorson, John A. [1 ]
Broome, H. Elizabeth [1 ]
Rashidi, Hooman H. [1 ]
Curtin, Peter T. [2 ]
Dell'Aquila, Marie L. [3 ]
机构
[1] Univ Calif San Diego Hlth Sci, Dept Pathol, La Jolla, CA 92093 USA
[2] Univ Calif San Diego Hlth Sci, Div Hematol, La Jolla, CA 92093 USA
[3] Univ Calif San Diego Hlth Sci, Dept Med, Med Genet Lab, La Jolla, CA 92093 USA
关键词
t(4; 22)(q12; q11.2); Break cluster region; Platelet-derived growth factor receptor alpha; Mixed phenotype acute leukemia; CHRONIC MYELOID-LEUKEMIA; CHRONIC EOSINOPHILIC LEUKEMIA; FUSION GENE; TYROSINE KINASE; HYPEREOSINOPHILIC SYNDROME; THERAPEUTIC TARGET; PDGFRA; IMATINIB; ALPHA; BCR;
D O I
10.1016/j.humpath.2010.07.028
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
The patient is a 45-year-old woman with a history of breast cancer who had been treated 1 year ago with radiation and chemotherapy. Flow cytometric analysis of bone marrow aspirate revealed 81% blasts positive for CD4, CD11c (partial), CD13, CD19 (partial), cytoplasmic CD22, CD34, CD36, CD45, cytoplasmic CD79a, CD117 (partial), HLA-DR, and terminal deoxynucleotide transferase, consistent with a mixed phenotype acute leukemia (B/myeloid lineage). Conventional karyotypic analysis revealed a t(4;22)(q12;q11.2) in 12 of 13 cells analyzed. Fluorescence in situ hybridization analysis using a dual-color, dual-fusion break cluster region/ABL probe set showed no break cluster region/ABL translocation but an extra break cluster region signal in 85% (170/200) of cells, consistent with a translocation involving the break cluster region gene at 22q11.2. A FIPIL1/CHIC2/platelet-derived growth factor receptor alpha deletion/fusion probe showed signal separation in 96.5% (193/200) of interphase nuclei. Reverse transcriptase-polymerase chain reaction using sense break cluster region primers and an antisense platelet-derived growth factor receptor a primer resulted in a product of approximately 590 base pairs, consistent with the presence of a break cluster region/platelet-derived growth factor receptor alpha fusion gene. Because of the presumptive platelet-derived growth factor receptor alpha translocation and its sensitivity to tyrosine-kinase inhibitor, the patient was treated with imatinib mesylate, cytarabine, and idarubicin as induction and maintenance therapy; and she has remained free of disease for 5 months since the initial diagnosis. (C) 2011 Elsevier Inc. All rights reserved.
引用
收藏
页码:2029 / 2036
页数:8
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