title: Donor cell leukemia in umbilical cord blood transplant patients: a case study and literature review highlighting the importance of molecular engraftment analysis.
abstract: Donor cell neoplasms are rare complications of treatment regimens that involve stem cell transplantation for hematological malignancies, myelodysplastic processes, or certain genetic or metabolic disorders. We report a case of donor cell leukemia in a pediatric patient with a history of acute myeloid leukemia that manifested as recurrent AML FAB type M5 fourteen months after umbilical cord blood transplantation. Although there was some immunophenotypic drift from the patient's original AML and their posttransplant presentation, the initial pathological impression was of recurrent disease. Bone marrow engraftment analysis by multiplex PCR of short tandem repeat markers performed on the patient's diagnostic specimen showed complete engraftment by donor cells, with a loss of heterozygosity in the donor alleles on chromosome 7. This led to the reinterpretation of this patient's disease as donor-derived leukemia. This interpretation was supported by a routine karyotype and fluorescence in situ hybridization analysis showing loss of chromosome 7 and a male (donor) chromosome complement in this female patient. Also noted was a loss of the patient's presenting chromosomal abnormality, t(11;19)(q23;p13). This case highlights the need for close coordination between all aspects of clinical testing for the transplant patient, including molecular engraftment studies, when distinguishing the very common complication of recurrent disease from the exceedingly rare complication of donor cell leukemia.
authors.affiliation: Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Crow
authors.forename: Kenneth
authors.initials: K
authors.lastname: Youens
authors.forename: Susan
authors.initials: S
authors.lastname: Michalowski
authors.forename: Gail
authors.initials: G
authors.lastname: Perrine
authors.forename: Cassandra
authors.initials: C
authors.lastname: Emhart
authors.forename: Felicia
authors.initials: F
authors.lastname: Johnson
authors.forename: Amy
authors.initials: A
authors.lastname: Gerling
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Goodman
authors.forename: Siby
authors.initials: S
authors.lastname: Sebastian
authors.forename: Catherine W
authors.initials: CW
authors.lastname: Rehder
authors.forename: Michael B
authors.initials: MB
authors.lastname: Datto
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009368:Neoplasm Transplantation / Q000009:adverse effects*; D012008:Recurrence; D014019:Tissue Donors