Iwase Satsuki, Akiyama Nobutake, Sekikawa Tetsuaki, Saito Shinobu, Arakawa Yasuhiro, Horiguchi-Yamada Junko, Yamada Hisashi
Division of Hematology and Oncology, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan.
Genes Chromosomes Cancer. 2003 Sep;38(1):102-5. doi: 10.1002/gcc.10239.
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.
NUP98基因与几种与急性白血病相关的染色体异常有关。复发性t(11;20)(p15;q11)染色体易位导致NUP98/TOP1嵌合基因的产生。这种异常主要在治疗相关白血病中观察到，且尚未证实有TOP1/NUP98转录本。我们描述了一例新发的伴有t(11;20)(p15;q11)的急性髓系白血病病例，该患者无已知化学物质接触史。易位发生在NUP98的第13内含子和TOP1的第7内含子，与之前报道的3例病例相同。NUP98中的断点与之前报道的一个病例完全相同。此外，在我们的患者中首次检测到了相互的TOP1/NUP98转录本。
