Trisomy 8 in an allogeneic stem cell transplant recipient representative of a donor‐derived constitutional abnormality

• Published in: American journal of hematology 2008-11, Vol.83 (11), p.846-849
• Main Authors: Frey, Noelle V., Leid, Christopher E., Nowell, Peter C., Tomczak, Ewa, Strauser, Honore T., Kasner, Margaret, Goldstein, Steven, Loren, Alison, Stadtmauer, Edward, Luger, Selina, Hexner, Elizabeth, Hinkle, Joanne, Porter, David L.
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Chromosome aberrations; Chromosomes, Human, Pair 8 - genetics; Female; Hematologic and hematopoietic diseases; Hematopoietic Stem Cell Transplantation; Humans; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - therapy; Medical genetics; Medical sciences; Mosaicism; Transplantation Chimera - genetics; Transplantation, Homologous; Trisomy - genetics
• ISSN: 0361-8609; 1096-8652
• DOI: 10.1002/ajh.21268

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.