Autologous peripheral blood stem cell transplantation in acute myeloblastic leukaemia and myelodysplastic syndrome patients: evaluation of tumour cell contamination of leukaphereses by cytogenetic and molecular methods

Abstract

Summary:We evaluated 18 acute myeloblastic leukaemia (AML) and myelodysplastic syndrome (MDS) patients with abnormal karyotype at diagnosis who underwent peripheral blood stem cell (PBSC) transplantation. To evaluate the presence of residual tumour cells, bone marrow (BM) samples and PBSC collections were analysed by cytogenetics and in selected cases also by fluorescence in situ hybridisation (FISH) and molecular studies. All patients were considered to be in morphologic and cytogenetic complete remission (CR) at the time of mobilisation. Seven patients showed neoplastic cells in PBSC harvest and/or BM specimen before reinfusion. Cytogenetic studies revealed contamination in apheretic collections in one patient only, while three patients had BM but not PBSC contamination. Three more patients had leukaemic cells both in the BM and PBSC. All but one (with only BM contamination) of these patients relapsed within 9 months. However, five more patients relapsed after transplantion: in four cases there was no cytogenetic sign of contamination either in PBSC or BM cells and in one case no molecular evidence was revealed either. This study suggests that, whereas the presence of leukaemic cells in autologous grafts correlates with a poor prognosis, the lack of detection of tumour cells is not always predictive of long-term disease-free survival. More importantly, PBSC collections from AML patients are not contaminated by leukaemic cells if the BM is disease-free.

Use of peripheral blood stem cells for autologous transplantation in acute myeloid leukemia patients allows faster engraftment and equivalent disease-free survival compared with bone marrow cells

“…When applicable, cytogenetic and molecular analyses were performed on the product in order to confirm CR. 22 …”

“…Studies [20][21][22] have failed to detect tumor cells in the peripheral blood of leukemic subjects during the early recovery phase from induction/consolidation chemotherapy. However, the high relapse rate previously described 13,15,23,24 suggests that the much larger number of cells infused with PBSC may result in reinfusion of more residual malignant cells.…”

Hematologic and Clinical Features of 3q21q26 Syndrome: Extremely Poor Prognosis and Association with Central Diabetes Insipidus

“…3)(q26;q21q26)를 동반하는 혈액질환이다 [1]. 세 염색체 이상은 모두 3q21의 ribophorin I (RPN1) 유전자의 증강인자(enhancer) 가 3q26에 위치한 ecotropic viral integration site-1 (ETV1) 유 Background : 3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26).…”

Molecular remission in PCR-positive acute myeloid leukemia patients with inv(16): role of bone marrow transplantation procedures

“…This finding is in line with the concept that AML with inv(16) is strictly associated with the type A transcript. 6,7 Three patients (Nos 1-3 in Table 1), who were only treated with non-ablative chemotherapy due to their age, died from AML: in these cases MRD was not evaluated. The remaining 16 patients (Nos 4-19) achieved CCR after different schedules of ablative induction and consolidation chemotherapy protocols ( Table 1).…”

“…[2][3][4] The molecular marker is detectable by reverse transcription-polymerase chain reaction assay (RT-PCR) [5][6][7][8][9] on RNA at the time of diagnosis, and could be particularly useful for monitoring MRD in patients who achieve complete clinical remission (CCR) after induction therapy. [10][11][12][13] Marcucci et al 14 and several other authors [10][11][12][13] have reported favorable clinical outcomes despite persistence of CBF␤/MYH11 transcripts detected by RT-PCR; similar findings have been reported for another core-binding-factor altered in AML, 15,16 in which positive expression of AML1-ETO transcript can persist after induction and consolidation chemotherapy without evidence of hematological relapse.…”