涉及1q21及12p13的核型改变及其临床意义

Abnormal Karyotypes Involving 1q21 and 12p13 and Their Clinical Significance ——Review

许多造血系统恶性克隆性疾病存在获得性、重现性染色体异常,其中染色体交互易位是最常见的异常之一。然而,还有很多染色体异常发生率较低,与疾病的关联性不明确,其临床意义有待进一步研究,其中有一种涉及1号染色体长臂和12号染色体短臂交互易位的核型异常--t(1;12)(q21;p13),为罕见的染色体核型改变,目前国内外相关报道仅见于6例患者,且皆为血液系统疾病,分别为急性髓系白血病1例、高危骨髓增生异常综合征1例、儿童急性淋巴细胞白血病2例、加速期慢性粒细胞性白血病1例、多发性骨髓瘤1例,其中2例患者检出有相应的融合基因。本文分别对涉及1q21和12p13的常见染色体核型异常及该区域常涉及的基因进行总结,并就已报道的t(1;12)(q21;p13)病例进行综述。

Many hematological malignances involve recurrent chromosomal abnormalities,and the reciprocal translocation is one of them. However,there are a lot of chromosomal abnormalities with lower incidence and unclear clinical significance. Among them,the one abnormal karyotype translocation,t( 1; 12)( q21; p13) is a rare karyotype change. Only 6 patients had been reported to have this karyotype and all of them suffered from hematologic diseases,including one case of acute myeloid leukemia,one case of high-risk myelodysplastic syndrome,two children with acute lymphoblastic leukemia,one case of chronic myeloid leukemia at accelerated phase and one case of multiple myeloma.Among them,the fusion gene were detectable in two cases. In this article,the common chromoscme karyotype abnormality involving 1q21 and 12p13,and genes involving in these regious are summarized,moreover the reported cases of t( 1; 12)( q21; p13) are reviewed.