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Woo Yong Shin, M.D.1, Hae In Bang, M.D.1, Jieun Kim, M.D.1, Kyoung-Ha Kim, M.D.2, Jong-Ho Won, M.D.2, Rojin Park, M.D.1
Abstract
Donor cell leukemia (DCL), a rare but fatal complication arising from allogenic stem cell transplantation, is a complex disease associated with multiple pathophysiological processes. Specific diagnosis of DCL distinct from relapsed leukemia is important owing to its implications in setting up therapeutic approaches. Fluorescence in situ hybridization (FISH), short tandem repeat (STR), variable number tandem repeat (VNTR) tests, or informative single nucleotide polymorphism (SNP) analysis can be used to confirm the origin of leukemic cells from donor cells. Here, we report a case of DCL in a female patient after allogeneic peripheral stem cell transplantation from a male donor for the treatment of acute promyelocytic leukemia (APL) with PML-RARA. DCL developed 6 years after stem cell transplantation and leukemic cells of donor origin were confirmed by the presence of Y chromosome on the X/Y FISH analysis of bone marrow aspirate specimen. This is the first case of DCL reported in an APL patient in Korea.
Figures and Tables
Fig. 1
Initial diagnosis of acute promyelocytic leukemia (APL) with PML-RARA. (A) Faggot cells on the bone marrow touch imprint stained with Wright-Giemsa (×400). (B) Cryptic insertion of RARA segment into PML on chromosome 15q resulted in PML-RARA rearrangement, as shown by fluorescence in situ hybridization (FISH) using a dual fusion probe.
Fig. 2
Donor cell leukemia (DCL) following allogeneic stem cell transplantation from a male donor. (A) Infiltrated blasts on the bone marrow aspiration crush film stained with Wright-Giemsa stain (×400). (B) Presence of Y chromosome detected by fluorescence in situ hybridization (FISH) analysis with X and Y probes.
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