Pui C H, Raimondi S C, Murphy S B, Ribeiro R C, Kalwinsky D K, Dahl G V, Crist W M, Williams D L
Blood. 1987 May;69(5):1289-93.
Leukemic cell chromosomal findings in 27 infants were analyzed. Among the 18 cases of acute nonlymphoblastic leukemia (ANLL), all but two were classified as monocytic or myelomonocytic. The remaining nine cases were acute lymphoblastic leukemia (ALL), seven lacking the common ALL antigen and two having cytoplasmic immunoglobulin (pre-B phenotype). Twenty-five cases (93%) had an abnormal karyotype, 21 (84%) being pseudodiploid. Chromosomal translocations were detected in 67% of the ANLL cases and in 78% of the ALL cases. Nonrandom chromosomal abnormalities included the t(9;11)(p21-22;q23) in three cases of monocytic leukemia, inversion of chromosome 16 in three cases of myelomonocytic leukemia with bone marrow eosinophilia, and t(4;11)(q21;q23) in one case of ALL. Chromosomal regions preferentially involved in infant leukemia included 11q23-25 (13 cases), 9p21-22 and 10p11-13. All but one of the 24 cases with chromosomal breakage or rearrangement had breakpoints that corresponded to known fragile sites, half of which were at 11q23-25, a finding that may have pathogenetic importance. The CALLA- or pre-B phenotype and the presence of chromosomal translocations in most infants with ALL provide a biological explanation for their poor prognosis.
分析了27例婴儿白血病细胞的染色体检查结果。在18例急性非淋巴细胞白血病(ANLL)中,除2例以外,其余均被分类为单核细胞性或粒单核细胞性。其余9例为急性淋巴细胞白血病(ALL),其中7例缺乏常见的ALL抗原,2例有胞质免疫球蛋白(前B细胞表型)。25例(93%)有核型异常,21例(84%)为假二倍体。在67%的ANLL病例和78%的ALL病例中检测到染色体易位。非随机染色体异常包括3例单核细胞白血病中的t(9;11)(p21 - 22;q23)、3例伴有骨髓嗜酸性粒细胞增多的粒单核细胞白血病中的16号染色体倒位,以及1例ALL中的t(4;11)(q21;q23)。婴儿白血病中优先受累的染色体区域包括11q23 - 25(13例)、9p21 - 22和10p11 - 13。24例有染色体断裂或重排的病例中,除1例以外,其余病例的断点均与已知的脆性位点相对应,其中一半位于11q23 - 25,这一发现可能具有致病重要性。大多数ALL婴儿的CALLA或前B细胞表型以及染色体易位的存在为其预后不良提供了生物学解释。