AI Article Synopsis
- The NUP98 gene is linked to chromosomal abnormalities in acute leukemia, particularly the t(11;20)(p15;q11) translocation, which produces a chimeric gene NUP98/TOP1.
- This translocation is mostly found in therapy-related leukemias, but a case of acute myeloid leukemia was reported with no chemical exposure history, confirming the occurrence of this translocation.
- In this case, the translocation affected specific introns of both NUP98 and TOP1, mirroring past cases, but for the first time, a reciprocal TOP1/NUP98 transcript was identified.
Article Abstract
The NUP98 gene is involved in several chromosomal abnormalities associated with acute leukemia. The recurrent t(11;20)(p15;q11) chromosomal translocation results in generation of the NUP98/TOP1 chimeric gene. This abnormality has been observed primarily in therapy-related leukemias, and TOP1/NUP98 transcripts have not been demonstrated. We describe a case of de novo acute myeloid leukemia with t(11;20)(p15;q11), with no known history of exposure to chemicals. The translocation occurred in intron 13 of NUP98 and intron 7 of TOP1, as in the three previously reported cases. The breakpoint in NUP98 was exactly the same as that found in a previously reported case. In addition, a reciprocal TOP1/NUP98 transcript was detected for the first time in our patient.
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| http://dx.doi.org/10.1002/gcc.10239 | DOI Listing |
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