Hematopoietic engraftment following transplantation of bone marrow cells carrying a Philadelphia (Ph′)‐like chromosome

Abstract

A phenotypically normal donor for bone marrow transplantation was found to have a previously unreported karyotype, 46, XY, t(18q+;22q-), resulting in a Ph'-like chromosome. Identification of the Ph'-like chromosome in cultures of skin fibroblasts, phytohemaglutinin-stimulated peripheral blood cells, and bone marrow cells from the marrow donor, but not in cell cultures from siblings or parents, indicated that it represented an acquired somatic mutation. Demonstration of the Ph'-like chromosome in the marrow graft recipient's blood and bone marrow cells after transplantation provided a unique and definitive marker of engraftment. Hematopoiesis appeared normal in both the donor and recipient after transplantation. This study indicates that a mutation creating a Ph'-like chromosome in hematopoietic cells need not produce hematologic abnormality. Presence of this translocation did not appear to interfere with normal hematopoietic or lymphoid differentiation and replication in the transplant setting.

Donor-derived 47, XXY in an unrelated cord blood transplant recipient

“…These analyses identify indirectly the karyotype of donor cells. Various types of constitutional abnormalities of karyotype have been reported to be transmitted after allogeneic hematopoietic stem cell transplantation as shown in Table 1 (Graze et al 1977; Becher et al 1986; Kuffel et al 1991; Barquinero et al 1995; Halaburda et al 2000; Moore et al 2005; Manola et al 2006; Ismail et al 2007; Balci et al 2008; Frey et al 2008; Consoli et al 2011). All donors with Down syndrome were identified before stem cell donations as the manifestations of Down syndrome were evident.…”

Inadvertent transplantation of haematopoietic stem cells carrying constitutional Robertsonian translocation from an apparently normal donor to an AML patient: a case report

“…In this case there was evidence of a clinical consequence in using these cytogenetically abnormal cells, as a good initial engraftment was followed by graft failure at day þ 70. Graze et al 8 reported a case of a phenotypically normal donor with a t(18;22) constitutional chromosome translocation. Transmission of a constitutional RT from an HSC donor to a recipient is very rare, with only one previous case reported, that of a male patient with Ph-positive CML and constitutional Robertsonian t(14;15) who received an HLA-compatible BM from his sister who was also a carrier of Robertsonian t(14;15).…”

Donor-derived constitutional chromosomal abnormalities after allogeneic hematopoietic cell transplantation: a single-center experience and a review of the literature

“…In addition, acquired Robertsonian translocations may be found in hematological disorders at a higher frequency of 1 in 300-400. 7 Graze et al 8 reported a case of phenotypically normal donor with a t (18;22) constitutional chromosome translocation. There was also another case of Robertsonian constitutional translocation noted from a donor (sister) with t(14;15) in a male recipient with CML.…”