Interstitial Deletion of the Short Arm of Chromosome 12 during Clonal Evolution in Myelodysplastic Syndrome with t(5;12)(q13;p13) Involving the ETV6 Gene

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• 作者：Yamamoto ; Katsuya ; Nagata ; Kaoru ; Yagasaki ; Fumiharu ; Tsurukubo ; Yoshito ; Tamura ; Akiko ; Taniwaki ; Masafumi ; et. al.
• 刊名：Cancer Genetics and Cytogenetics
• 出版年：2000
• 期刊代码：43_01654608
• 类别：med
• 出版时间：June, 2000
• 卷：119
• 期：2
• 页码：113-117
• 文件大小：1.43 M

摘要

We report here a 65-year-old man with a myelodysplastic syndrome (MDS), refractory anemia with excess of blasts. He had received chemotherapy with tegafur for renal carcinoma. Chromosome analysis of bone marrow cells revealed complex karyotypes; del(5)(q13) was observed in all 20 metaphase spreads, and two related aberrations, add(12)(p11) and add(12)(p13), were detected in 13 and 7 cells, respectively. Fluorescence in situ hybridization (FISH) analysis with chromosome-specific DNAs revealed that these alterations originated from a reciprocal translocation (5;12)(q13;p13). Therefore, del(5)(q13), add(12)(p11), and add(12)(p13) were revised as der(5)t(5;12)(q13;p13), der(12)del(12)(p11p13)t(5;12)(q13;p13), and der(12)t(5;12)(q13;p13), respectively. Fluorescence in situ hybridization with a series of cosmid probes spanning the ETV6 gene showed that the 12p13 breakpoint on the der(12)t(5;12)(q13;p13) was located in intron 1, but the exon 1 signal was deleted. Our results suggest that a fusion gene was generated between the 5′-end of an unidentified partner at 5q13 and the 3′-end of ETV6 by t(5;12)(q13;p13), and that the interstitial deletion (12)(p11p13) occurred following t(5;12) during clonal evolution. del(12)(p11p13), including the rearranged ETV6 gene, may be implicated in the progression of MDS.