Usuki K, Nakatsu M, Kitazume K, Endo M, Osawa M, Iki S, Arai M, Urabe A
Division of Hematology, Kanto Teishin Hospital, Tokyo.
Intern Med. 1996 Apr;35(4):327-30. doi: 10.2169/internalmedicine.35.327.
Pericentric inversion of chromosome 16 [inv(16)(p13q22)] is seen in patients with acute myelomonocytic leukemia with bone marrow eosinophilia. This inversion juxtaposes the MYH11 gene on p13 and the CBFB gene on q22, resulting in the formation of a chimeric mRNA transcript. We describe a patient with acute myelogenous leukemia (M1), with del(16)(q22), who expressed the chimeric transcript. Reverse transcriptase polymerase chain reaction and the sequencing of its product showed fusion of 5'CBFB at position 495 to 3'MYH11 at position 1201. To our knowledge, this is the first report of an AML (M1) case with del(16) and CBFB/MYH11 rearrangement.
在伴有骨髓嗜酸性粒细胞增多的急性粒单核细胞白血病患者中可见16号染色体臂间倒位[inv(16)(p13q22)]。这种倒位使位于p13的MYH11基因与位于q22的CBFB基因并列，导致嵌合mRNA转录本的形成。我们描述了一名患有急性髓系白血病（M1）且有del(16)(q22)的患者，该患者表达了嵌合转录本。逆转录聚合酶链反应及其产物测序显示，位于495位的5'CBFB与位于1201位的3'MYH11融合。据我们所知，这是首例伴有del(16)和CBFB/MYH11重排的急性髓系白血病（M1）病例报告。
