the formation of an aberrant pax5 transcript in a patient with mixed phenotype acute leukemia harboring der(9)t(7;9)(q11.2;p13)
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ID: 147352
2016
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Abstract
We experienced the case of a 56-year-old male with B-lymphoid/myeloid lineage mixed phenotype acute leukemia (MPAL). A cytogenetic analysis of the patient's bone marrow revealed a complex karyotype, including der(9)t(7;9)(q11.2;p13). We identified an aberrant PAX5 transcript, including the exons 1A to 5 and the contiguous intron 5/6 sequence using the 3′ rapid amplification of cDNA ends-polymerase chain reaction method, and confirmed their expression in the leukemic cells. Our case suggests that der(9)t(7;9)(q11.2;p13) can cause the truncation of the PAX5 transcript, which is supposed to contribute to the generation of MPAL, in addition to three previously reported types of PAX5 fusion.
| Reference Key |
amaki2016leukemiathe
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|---|---|
| Authors | ;Jun Amaki;Hiromichi Matsushita;Yuka Kitamura;Ryoko Nagao;Hiromichi Murayama;Minoru Kojima;Kiyoshi Ando |
| Journal | urology annals |
| Year | 2016 |
| DOI |
10.1016/j.lrr.2016.04.001
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