Trisomy 8 in an allogeneic stem cell transplant recipient representative of a donor-derived constitutional abnormality†
Corresponding Author
Noelle V. Frey
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Division of Hematology-Oncology, University of Pennsylvania Medical Center, 16 Penn Tower, 3400 Spruce Street, Philadelphia, PASearch for more papers by this authorChristopher E. Leid
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorPeter C. Nowell
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorEwa Tomczak
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorHonore T. Strauser
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorMargaret Kasner
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorSteven Goldstein
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorAlison Loren
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorEdward Stadtmauer
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorSelina Luger
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorElizabeth Hexner
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorJoanne Hinkle
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorDavid L. Porter
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorCorresponding Author
Noelle V. Frey
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Division of Hematology-Oncology, University of Pennsylvania Medical Center, 16 Penn Tower, 3400 Spruce Street, Philadelphia, PASearch for more papers by this authorChristopher E. Leid
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorPeter C. Nowell
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorEwa Tomczak
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorHonore T. Strauser
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorMargaret Kasner
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorSteven Goldstein
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorAlison Loren
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorEdward Stadtmauer
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorSelina Luger
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorElizabeth Hexner
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorJoanne Hinkle
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorDavid L. Porter
Division of Hematology-Oncology and Abramson Cancer Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorConflict of Interest: Nothing to report.
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. Am. J. Hematol., 2008. © 2008 Wiley-Liss, Inc.
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