title: Transmission of an expanding donor-derived del(20q) clone through allogeneic hematopoietic stem cell transplantation without the development of a hematologic neoplasm.
abstract: Donor cell leukemia is a rare complication of allogeneic hematopoietic stem cell transplantation (HSCT), which may result from the development of a new malignancy in previously healthy donor cells after transplant into the recipient, or it may derive from the transmission of an occult leukemia from donor to recipient. We report a case of donor derived 20q11.2 deletion in a male patient who received an allogeneic HSCT from his HLA-identical sister for the treatment of his chronic lymphocytic leukemia. Bone marrow cells from the donor were found to contain the 20q deletion that expanded over time, but which was absent in her peripheral blood cells. Although cases of donor cell leukemia after HSCT have been reported, in this case there has been no evidence of an associated hematologic neoplasm in either the donor or recipient. Pre-transplant donor bone marrow evaluations are not practical or warranted, however the finding of new cytogenetic abnormalities after transplant mandates a thorough evaluation of the donor.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: aikawa@mail.med.upenn.edu.
authors.forename: Vania
authors.initials: V
authors.lastname: Aikawa
authors.affiliation: Division of Hematology and Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: David
authors.initials: D
authors.lastname: Porter
authors.affiliation: Division of Hematology and Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Marlise R
authors.initials: MR
authors.lastname: Luskin
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Adam
authors.initials: A
authors.lastname: Bagg
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Jennifer J D
authors.initials: JJ
authors.lastname: Morrissette
mesh_terms: D020732:Cytogenetic Analysis; D005260:Female; D019337:Hematologic Neoplasms / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007938:Leukemia / Q000175:diagnosis / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D014019:Tissue Donors; D014184:Transplantation, Homologous; D019737:Transplants / Q000473:pathology*
keywords: 20q deletion; Donor cell leukemia; allogeneic hematopoietic stem cell transplantation; chronic lymphocytic leukemia