年轻单卵双胞胎急性巨核细胞白血病中获得性21三体及独特的克隆进化
Acquired trisomy 21 and distinct clonal evolution in acute megakaryoblastic leukaemia in young monozygotic twins.
作者信息
Stark Batia, Jeison Marta, Preudhomme Claude, Fenaux Pierre, Ash Shifra, Korek Yifat, Stein Jerry, Zaizov Rina, Yaniv Issac
机构信息
Cancer Cytogenetic Laboratory and Centre of Paediatric Haematology/Oncology, Schneider Children's Medical Centre of Israel, Petah Tiqva, Israel.
出版信息
Br J Haematol. 2002 Sep;118(4):1082-6. doi: 10.1046/j.1365-2141.2002.03756.x.
An intrauterine origin of childhood acute lymphoblastic leukaemia (ALL) was proven by the identical clonotypic gene rearrangement in the concordant leukaemias of monozygotic twins, arising from a single clonogenic progeny. The monozygotic twins, presented at the age of 22 months with acute megakaryoblastic leukaemia (AML-M7) in one and myelodysplasia transformed to AML-M7 in the other. Leukaemic cells in both twins carried trisomy 21 and additional different clonal evolution changes of del(20q) in the first twin and trisomy 8 in the second. AML-M7 of late infancy with trisomy 21 may be included in the leukaemias of intrauterine origin, possibly a result of genotoxic insult.
单卵双胞胎的一致性白血病中相同的克隆型基因重排证明了儿童急性淋巴细胞白血病（ALL）的宫内起源，其源自单个克隆源性后代。这对单卵双胞胎在22个月大时就诊，其中一个患有急性巨核细胞白血病（AML-M7），另一个则是骨髓发育异常转变为AML-M7。两个双胞胎的白血病细胞均携带21号染色体三体，并且第一个双胞胎还有额外不同的克隆进化变化，即20号染色体长臂缺失（del(20q)），第二个双胞胎则有8号染色体三体。伴有21号染色体三体的晚婴儿期AML-M7可能属于宫内起源的白血病，可能是基因毒性损伤的结果。
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