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KMID : 0366220140490010022
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Korean Journal of Hematology
2014 Volume.49 No. 1 p.22 ~ p.28
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Characteristics of hematologic malignancies with coexisting t(9;22) and inv(16) chromosomal abnormalities
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Han Eun-Hee
Lee Hye-Young
Kim Yong-Goo
Han Kyung-Ja
Lee Sung-Eun
Kim Hee-Je
Kim Dong-Wook
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Abstract
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Background: The coexistence of t(9;22)(q34;q11.2) and inv(16)(p13q22) chromosomal abnormalities is extremely uncommon, and only a small number of such cases have been reported. Here, we characterized 7 cases of hematologic malignancy exhibiting t(9;22) and inv(16) coexistence.
Methods: We reviewed the cytogenetic data for hematologic malignancies treated at the Catholic Blood and Marrow Transplantation Center between January 2004 and June 2013. We iden-tified 7 cases exhibiting t(9;22) and inv(16) coexistence. In addition, we analyzed muta-tions in the IKZF1, NPM1, FLT3, N-RAS, K-RAS, c-KIT, and TP53 genes.
Results: Four cases of chronic myelogenous leukemia (CML; 1 chronic phase, 2 accelerated phase, and 1 blast phase) and 3 cases of acute myeloid leukemia (AML; 1 de novo and 2 therapy-re-lated) were identified. The percentages of circulating blasts and bone marrow eosinophils were higher in AML cases than in CML cases (53% vs. 5% and 30% vs. 5.5%, respectively). The proportions of each chromosomal abnormality were used along with follow-up kar-yotyping results to identify secondary changes. In BCR/ABL, a p210 fusion transcript was associated with CML, whereas a p190 fusion transcript was associated with AML. One patient with AML harbored 2 mutations: c-KIT D816V and TP53 E11Q. All patients except 1 with CML blast phase sustained clinical remission after treatment, which included an imatinib mesylate regimen.
Conclusion: This study shows that observations of bone marrow morphology, initial and follow-up cytogenetic studies, and karyotyping of BCR/ABL1 and CBFB/MYH11 provide valuable in-formation for characterizing hematologic malignancies exhibiting t(9;22) and inv(16) coexistence.Key WordsChro
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KEYWORD
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Chronic myelogenous leukemia, Acute myeloid leukemia, t(9, 22), BCR/ABL1, inv(16), CBFB/MYH11
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