The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality
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Inv(11)(p15q22)/ NUP98-DDX10 rearrangement is a rare but recurrent chromosomal translocation associated with myeloid malignancies. Structural chromosomal rearrangements of the nucleoporin 98 gene ( NUP98 ) at 11p15.4 produce NUP98 fu- sions with the DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 ( DDX10 ) gene on chromosome 11q22 [1]. To date, only 15 such cases, except the present case, with de novo or therapy- related myeloid disorders have been reported [1-8]. Three NUP98-DDX10 fusion isoforms, types I, II, and III, have been reported. The type I fusion, which fuses NUP98 exon 12 (NM_139131.1) with DDX10 exon 6 (NM_004398.2), has been reported in 2 adult therapy-related AML patients [1, 8]. The type II fusion, which fuses NUP98 exon 14 with DDX10 exon 7, has been reported in 12 cases. The type III fusion, which fuses NUP98 exon 15 and DDX10 exon 7, has been reported in 1 adult de novo AML patient with a concurrent case of type II fu- sion [7]. Herein we report a de novo childhood AML patient with inv(11)(p15q22)/ NUP98-DDX10 rearrangement for the first time in Korea.
Abstract
Inv(11)(p15q22)/ NUP98-DDX10 rearrangement is a rare but recurrent chromosomal translocation associated with myeloid malignancies. Structural chromosomal rearrangements of the nucleoporin 98 gene ( NUP98 ) at 11p15.4 produce NUP98 fu- sions with the DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 ( DDX10 ) gene on chromosome 11q22 [1]. To date, only 15 such cases, except the present case, with de novo or therapy- related myeloid disorders have been reported [1-8]. Three NUP98-DDX10 fusion isoforms, types I, II, and III, have been reported. The type I fusion, which fuses NUP98 exon 12 (NM_139131.1) with DDX10 exon 6 (NM_004398.2), has been reported in 2 adult therapy-related AML patients [1, 8]. The type II fusion, which fuses NUP98 exon 14 with DDX10 exon 7, has been reported in 12 cases. The type III fusion, which fuses NUP98 exon 15 and DDX10 exon 7, has been reported in 1 adult de novo AML patient with a concurrent case of type II fu- sion [7]. Herein we report a de novo childhood AML patient with inv(11)(p15q22)/ NUP98-DDX10 rearrangement for the first time in Korea.
참고문헌 (10)
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