Molecular tracking of leukemogenesis in a triplet pregnancy

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Presentation transcript:

Molecular tracking of leukemogenesis in a triplet pregnancy by Ana Teresa Maia, Anthony M. Ford, G. Reza Jalali, Christine J. Harrison, G. Malcolm Taylor, Osborn B. Eden, and Mel F. Greaves Blood Volume 98(2):478-482 July 15, 2001 ©2001 by American Society of Hematology

Analysis of TEL-AML1 translocation in a set of triplet twins Analysis of TEL-AML1 translocation in a set of triplet twins.(A) Scheme of TEL and AML1 genes showing where the primers anneal in both genes (small horizontal arrows). Analysis of TEL-AML1 translocation in a set of triplet twins.(A) Scheme of TEL and AML1 genes showing where the primers anneal in both genes (small horizontal arrows). The vertical arrows show the map location of the breakpoint betweenTEL and AML1 shared by the 2 leukemic twins. (B) Sequence neighboring the TEL-AML1 breakpoint found in the twins. The normal TEL sequence is shown at the top, the sequence found in the patients is shown in the center, and theAML1 sequence is shown at the bottom. There is a 4-base homology between TEL and AML1 in the breakpoint, which is shown in italics. (C) PCR analysis of the TEL-AML1translocation on the blood DNA of the triplet twins. The predicted PCR product of 521 bp was amplified with primers A and E in twins T1 and T2 but not in twin T3 or any of the control DNA samples. M, marker; T1 and T2, affected twins; T3, healthy twin; C, negative control DNA samples. Ana Teresa Maia et al. Blood 2001;98:478-482 ©2001 by American Society of Hematology

Analysis of fusion gene sequence in the Guthrie cards of the triplet twins on PCR reactions.(A, B) First and second PCR reactions, with specific primers B and D amplifying a product of 384 bp. Analysis of fusion gene sequence in the Guthrie cards of the triplet twins on PCR reactions.(A, B) First and second PCR reactions, with specific primers B and D amplifying a product of 384 bp. M, marker; T1 and T2, affected twins; T3, healthy twin; C, negative Guthrie controls; T2diag, twin 2 diagnostic DNA. Ana Teresa Maia et al. Blood 2001;98:478-482 ©2001 by American Society of Hematology

FISH analysis of TEL-AML1 fusion and TELdeletion FISH analysis of TEL-AML1 fusion and TELdeletion.Representative cells from T1 (2 metaphases, 3 interphases). FISH analysis of TEL-AML1 fusion and TELdeletion.Representative cells from T1 (2 metaphases, 3 interphases). The lower left-hand metaphase shows 2 normal signals each for TEL(green) and AML1 (red) with no fusion gene (juxtaposition of 2 colors)—ie, a normal, nonleukemic cell. The right-hand metaphase shows a red–green TEL-AML1 fusion plus the normal and the split AML1 signals. In this cell, the green TELsignal (for the nonrearranged TEL allele) is missing (ie, deleted) from the second chromosome 12. The lower interphase cell similarly has TEL-AML1 fusion plus TEL deletion. In contrast, the upper interphase cell has TEL-AML1 fusion but retains the second TEL (green) allele. The middle interphase cell has normal TEL and AML1 signals (note: in this latter, nonleukemic cell, one TEL and oneAML signal are in proximity but are not overlapping or fused). Ana Teresa Maia et al. Blood 2001;98:478-482 ©2001 by American Society of Hematology

Analysis of TEL deletions.(A) Detection of LOH on chromosome 12p. Analysis of TEL deletions.(A) Detection of LOH on chromosome 12p. Allotypes at 4 informative markers are shown for each twin pair at diagnosis (T1, T2) and twin 2 at remission (R). Both twins retain heterozygosity of marker D12577 and show LOH at markers D12S89 Δ D12S269. Twin 1 retains heterozygosity at marker D12S310, but twin 2 shows LOH. Deleted alleles are not entirely diminished because of the subclonal deletion of 12p in the leukemic cells. (B) Schematic representation of chromosome 12p showing position of microsatellite markers. The LOH restricted to T2 is shown by the arrow at D12S310. SCDR shows the shortest commonly deleted region.30 REM, remission DNA analysis (no LOH control). Ana Teresa Maia et al. Blood 2001;98:478-482 ©2001 by American Society of Hematology