The First Korean Case of NUP98-DDX10 Rearrangement in Therapy-Related Myeloid Neoplasm
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초록
Inv(11)(p15q22)/NUP98-DDX10 rearrangement is a rare genetic aberration reported in de-novo and therapy-related myeloid neoplasms (t-MNs). Here, we report the first Korean case of t-MN with an NUP98-DDX10 rearrangement. A 51-year-old Korean woman received treatment for epithelial ovarian cancer. Following the initial surgical intervention, she received multiple courses of chemotherapy along with radiotherapy owing to the recurrent episodes of relapse of the disease. The patient underwent a bone marrow investigation owing to persistent pancytopenia, and no definite evidence of dysplastic features was observed in peripheral blood cells or precursors. However, a cytogenetic investigation revealed that chromosome 11 had pericentric inversion with breaks and reunion at p15 and q22 bands in 14 out of 20 metaphases. Reverse transcription-PCR and subsequent sequencing confirmed the NUP98 exon 14-DDX10 exon 7 gene rearrangement (type II). Based on these findings, and her past history of treatment for ovarian cancer, she was ultimately diagnosed with t-MN. This case underscores the need for meticulous genetic tests for the diagnosis of unexplained cytopenia in patients with cancer under follow-up, particularly when there is no dysplasia or increase in blasts.
Abstract
Inv(11)(p15q22)/NUP98-DDX10 rearrangement is a rare genetic aberration reported in de-novo and therapy-related myeloid neoplasms (t-MNs). Here, we report the first Korean case of t-MN with an NUP98-DDX10 rearrangement. A 51-year-old Korean woman received treatment for epithelial ovarian cancer. Following the initial surgical intervention, she received multiple courses of chemotherapy along with radiotherapy owing to the recurrent episodes of relapse of the disease. The patient underwent a bone marrow investigation owing to persistent pancytopenia, and no definite evidence of dysplastic features was observed in peripheral blood cells or precursors. However, a cytogenetic investigation revealed that chromosome 11 had pericentric inversion with breaks and reunion at p15 and q22 bands in 14 out of 20 metaphases. Reverse transcription-PCR and subsequent sequencing confirmed the NUP98 exon 14-DDX10 exon 7 gene rearrangement (type II). Based on these findings, and her past history of treatment for ovarian cancer, she was ultimately diagnosed with t-MN. This case underscores the need for meticulous genetic tests for the diagnosis of unexplained cytopenia in patients with cancer under follow-up, particularly when there is no dysplasia or increase in blasts.
참고문헌 (9)
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