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Case Reports
. 2007 Sep;13(3):114-8.
doi: 10.4103/0971-6866.38986.

Emergence of an unrelated highly aberrant clone in an AML patient at relapse four months after peripheral blood stem cell transplantation

Affiliations
Case Reports

Emergence of an unrelated highly aberrant clone in an AML patient at relapse four months after peripheral blood stem cell transplantation

Pratibha S Kadam et al. Indian J Hum Genet. 2007 Sep.

Abstract

We report a case of AML-M1 with 5q aberration at diagnosis. The patient was treated with high-dose chemotherapy (HDCT). After remission induction, he received allogenic peripheral blood stem cell transplantation (PBSCT) from an HLA-match donor brother. The successive follow-up conventional cytogenetics investigations in remission after HDCT and PBSCT revealed cytogenetic remission. The most interesting observation in this case is that relapsed marrow revealed the emergence of an entirely new, highly aberrant, unrelated clone with unusual translocations t(6;17)(p23;p11.2),+8,der(8)dup inv(8)(q23qter), t(10;19)(q26;q13.3) 4½ months after PBSCT. Our findings suggest the possibility of a mutagenic effect of HDCT and myeloablative intense chemotherapy before PBSCT that could have induced a genetic lesion in the recipient's genetically unstable stem cells in an environment of immunosuppression. The highly complex nature of the clone and the rapid clonal evolution indicates the possibility of selective pressure with proliferative advantage.

Keywords: Acute myeloid leukemia; emergence; intense chemotherapy; mutagenic effects; peripheral blood stem cell transplantation; unusual aberrant clone.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Karyotype, 45,X,-Y,dic(5q22) at diagnosis
Figure 2
Figure 2
VNTR analysis by PCR. Tracks are (M) molecular weight marker ØX174, (R) recipient DNA, (D) donor DNA, (PTR1) (1st post-transplant 1st remission marrow), and (PTR2) (1st post-transplant 2nd remission marrow), (PTR3) (1st post-transplant relapse marrow)
Figure 3
Figure 3
Karyotype, 47, XY,t(6;17)(p23;p11.2), +8,dup inv(8)(q23qter), t(10;19)(q26.1;q13.3) at relapse
Figure 4
Figure 4
(A) FISH with CEP 8 (aqua) and LSI dual-color MYC probe on metaphase cell shows aqua signal of CEP 8 and orange/green signal of MYC at locus 8q24: signal pattern is indicative of trisomy 8. (B) FISH with CEP 10 (orange) and subtelomeric 19q probe (orange) on metaphase cell shows orange signal of CEP 10 at centromeric region and orange signal of subtelomeric 19q on normal 19 homologue and at 10q26, which is indicative of t(10;19)(q26.1;q13.3)

References

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