ELSEVIER Cytogenetic .Analysis in Human Bone Marrow Transplantation Enilze M. S. E Ribeiro, Iglenir J. Cavalli, Ana Teresa L. Schmid, D6borah A. Corn61io, Alice S. Tokutake, Val6ria M. M. Sperandio-Roxo, Juan Manuel Rodriguez, and Ricardo Pasquini ABSTRACT: Bone marrow transplantation (BMT) is a therapeutic process used to treat a variety of hematologic di.~eases. After BMT, the documentation of engrafting with the use of genetic markers is obligatory. C-bond polymorphism is an excellent genetic marker because it occurs with high frequency in all populations studied and shows a high stability in vitro and in vivo. We studied a total of 36 patients: 15 with myeloid leukemia and 21 with severe aplastic anemia (SAA), submitted to BMT. The majority of the patients with chronic granulocyte leukemia (CGL; 10/15, 67%) and with SAA (17/21, 81%) showed ct frequency of host cells around 15% (CGL) and 8% (SAA) in the first period analyzed (day +30 post-BMT); with a decrease in the others (+90, +180 to CGL and SAA and +365 only to CGL). In our study, the persistence of host cells in these proportions did not imply an unfavorable prognosis. On the contrary, some patients with myeloid leukemia (5/15, 33%) and SAA (4/21, 19%) showed high proportions of ,host cells in one or more periods analyzed. If compared to the first group, these patients had, in general, a poor clinical evolution, with rejections, relapses, and deaths in greater numbers. These results s.how the important contribution of cytogenetic analysis in the follow-up of patients sub- mitted to BMT. INTRODUCTION Bone marrow transplantation (BMT) is being used increas- ingly to treat a variety ~f diseases, including severe aplas- tic anemia (SAA) and l~ukemia. It is of both clinical and scientific importance to be able to document engrafting of transplanted bone marrow cells. Numerous genetic mark- ers have been used, including red blood cell antigens [1, 2], immunoglobulin allotype [3], red and white blood cell enzymes [4], cytogenetic markers [5-14], restriction frag- ment length polymorphism (RFLP) [15], hypervariable mini- satellite DNA probes [16], and in situ hybridization [171. The cytogenetic analysis can be performed on sex chro- mosomes when the host and donor are of the opposite sex, or by the C- or Q-band polymorphism method when they are of the same sex. In the present study we used both sex From the Departamento de Gen6tica do Setor de Ci~ncias Biol6gicas and Servi~o de Hematologia do Hospital de Cllnicas, Universidade Federal do F~rand, Brazil. Address reprint requests to: Prof. Enilze M. S. F. Ribeiro, Departamento de Gen6tica, Universidade Federal do Parand, Caixa Postal 19071, 81531-970, Curitiba, Parand, Brazil. Received February 9, 1995; accepted November 9, 1995. Cancer Genet Cytogenet89:21--26(1996) © Elsevier Science Inc., 1996 655 Avenue of the Americas, I'~ew York, NY 10010 chromosomes and C-band polymorphism with the objec- tive of evaluating the competitive behavior between the host and donor cells so as to verify the importance of dif- ferent proportions in relation to the clinical evolution of the patients submitted to BMT. MATERIALS AND METHODS Patients with Myeloid Leukemia A total of 15 patients, nine male and six female, 14 with chronic granulocyte leukemia (CGL) and one with acute myeloid leukemia (AML), were included in this study. All of them were of Caucasian origin, with the exception of one female, who was of Japanese origin. The average age was 28.6 -+ 12.1 years. All the donors were siblings of the patients, four men and 11 women. The average age was 27.7 _+ 12.5. Thirteen patients had donors of the opposite sex and the sex chromosomes were used as markers of cel- lular origin. In these cases, the bone marrow (BM) samples were obtained only after BMT. Two patient-donor pairs were of the same sex and peripheral blood (PB) samples were obtained prior to BMT in order to identify C-band polymorphism. An example of the heteromorphism is 0165-4608/96/$15.00 SSDI 0165-4608(95)00313-4