Advances in Human Genetics 15 by Michelle M. Le Beau, Janet D. Rowley (auth.), Harry Harris,

By Michelle M. Le Beau, Janet D. Rowley (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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5%), respectively, ANLL patients with abnormal karyotypes had a t(8;21). In the review by Rowley and Testa, the t(8;21) was found to be the most frequent abnormality in children with ANLL, being reported in 17% (10 of 60) of karyotypically abnormal cases. When only patients with AML-M2 are considered, 18% (41 of 226) of patients in the Fourth Workshop had a t(8;21). 17 Chapter 1: Chromosomal Abnormalities in Leukemia and Lymphoma b a c .... ..... ~ 8 15 21 17 f e d 9 11 16 6 9 3 Fig. 5. Partial karyotypes from trypsin-Giemsa-banded metaphase cells depicting nonrandom chromosomal rearrangements observed in ANLL de novo.

The abnormal chromosomes 8 and 21 are on the left in each pair. (b) t(l5;17)(q22;qll), APL. The rearranged chromosomes 15 and 17 are on the right in each pair. (c) inv(l6)(pI3q22), AMMoL. The inverted chromosome 16 is on the right. (d) t(9;11)(p22;q23) . The abnormal chromosomes 9 and 11 are on the right in each pair. (e) t(6;9)(p23;q34). The abnormal chromosome 6 is on the right of pair 6. The rearranged chromosome 9 is on the left of pair 9. (0 inv(3)(q21q26). Inverted chromosome 3 is on the right.

All three lines with a t(2;8) expressed Klight chains, and all five cell lines with a t(8;22) expressed A light chains. Of 17 cell lines with t(8;14), nine were K- and eight were A-producers. An exception to this correlation, namely, a Burkitt tumor with a t(8;22) whose cells produced IgMK, raises the question of whether the translocation event is intimately associated with the usual DNA rearrangement that is required to produce a functional immunoglobulin gene, or whether the two are independent.

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