Kempski Helena, Mensa-Bonsu Karen A, Kearney Lyndal, Jalali G Reza, Hann Ian, Khurshid Mohammed, Greaves Mel
Molecular Haematology Unit, Institute of Child Health, London, United Kingdom.
Genes Chromosomes Cancer. 2003 Aug;37(4):406-11. doi: 10.1002/gcc.10233.
Previous studies on concordant acute lymphoblastic leukemia (ALL) in identical twins have identified the leukemia as monoclonal with MLL or ETV6-RUNX1 gene fusion as early or initiating events in utero. In the latter case, postnatal latency is associated with secondary genetic events such as ETV6 deletion. We describe here a pair of infant twins with concordant acute monoblastic leukemia (AML). They are a unique pair in that their leukemia blasts display extensive intraclonal chromosomal diversity. Comparison of the leukemic cells between the two twins by karyotype and fluorescence in situ hybridization identifies a common or shared stem line and extensive subclonal diversity for which the twins' leukemic populations are divergent. This case of leukemia illustrates in utero initiation with early imposition of chromosomal instability, the progressively divergent evolution of which can be mapped in the twins into pre- and postnatal periods.
先前对同卵双胞胎中一致的急性淋巴细胞白血病（ALL）的研究已确定该白血病为单克隆性，MLL或ETV6-RUNX1基因融合是子宫内的早期或起始事件。在后一种情况下，出生后的潜伏期与继发性遗传事件如ETV6缺失有关。我们在此描述一对患一致急性单核细胞白血病（AML）的婴儿双胞胎。他们很独特，因为其白血病原始细胞显示出广泛的克隆内染色体多样性。通过核型分析和荧光原位杂交比较这对双胞胎之间的白血病细胞，确定了一个共同或共享的干细胞系以及广泛的亚克隆多样性，而双胞胎的白血病群体在这方面是不同的。这个白血病病例说明了子宫内起始时早期出现的染色体不稳定性，其逐渐不同的演变过程可在双胞胎中划分为产前和产后阶段。
