title: Trisomy 8 in an allogeneic stem cell transplant recipient representative of a donor-derived constitutional abnormality.
abstract: Trisomy 8 is a common cytogenetic abnormality in myeloid malignancies. It can also be present constitutionally and is associated with a wide range of phenotypes. We report a case of a 20-year-old woman with acute myelogenous leukemia associated with the 11q23/MLL translocation who underwent allogeneic hematopoietic stem cell transplantation (HSCT) from a healthy, unrelated 26-year-old female. Cytogenetics on a bone marrow biopsy and aspirate performed 71 days after transplant to evaluate pancytopenia identified trisomy 8 in 6 of 7 cells examined. The bone marrow was hypocellular but normal by morphology and flow cytometry. Fluorescent in situ hybridization (FISH) for the original 11q23/MLL translocation was negative. Chimerism analysis using multiplex polymerase chain reaction to amplify an informative short tandem repeat demonstrated 97% donor cells. These findings were confirmed by repeat bone marrow biopsies at Day 110 after transplant and 1 year after transplant. With resolution of comorbid illness, the patient's peripheral blood counts recovered and remained normal at 1 year after HSCT. FISH analysis of a cryopreserved sample of the donor graft showed trisomy 8 in 120 of 200 cells examined. This represents the first reported case of a person with constitutional trisomy 8 mosaicism serving as a stem cell donor. The case illustrates the importance of identifying donor-derived constitutional abnormalities to avoid the assumption that these cytogenetic abnormalities after HSCT are representative of malignant disease.
authors.affiliation: Division of Hematology-Oncology and Abramson Cancer Center, Hospital of University of Pennsylvania, Philadelphia, Pennsylvania, USA. noelle.frey@uphs.upenn.edu
authors.forename: Noelle V
authors.initials: NV
authors.lastname: Frey
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Leid
authors.forename: Peter C
authors.initials: PC
authors.lastname: Nowell
authors.forename: Ewa
authors.initials: E
authors.lastname: Tomczak
authors.forename: Honore T
authors.initials: HT
authors.lastname: Strauser
authors.forename: Margaret
authors.initials: M
authors.lastname: Kasner
authors.forename: Steven
authors.initials: S
authors.lastname: Goldstein
authors.forename: Alison
authors.initials: A
authors.lastname: Loren
authors.forename: Edward
authors.initials: E
authors.lastname: Stadtmauer
authors.forename: Selina
authors.initials: S
authors.lastname: Luger
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Hexner
authors.forename: Joanne
authors.initials: J
authors.lastname: Hinkle
authors.forename: David L
authors.initials: DL
authors.lastname: Porter
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy; D009030:Mosaicism; D018183:Transplantation Chimera / Q000235:genetics*; D014184:Transplantation, Homologous; D014314:Trisomy / Q000235:genetics*