Fludarabine, low-dose cyclophosphamide and rabbit antithymocyte globulin allowed stable engraftment after allogeneic peripheral blood stem cell transplantation for poly-transfused dyskeratosis congenita patient: case report.

BACKGROUND: Dyskeratosis congenita (DC) is characterized by the clinical triad of reticular skin pigmentation, oral leukoplakia, and nail dystrophy associated with bone marrow failure (BMF) and an high risk to develop cancer and pulmonary complications. The only curative treatment for patients with DC and BMF is stem cell transplantation. Due to the rarity of the disease, the best transplant procedure is not yet known. The use of myeloablative procedures has been associated with high mortality. In the last 2 decades, encouraging results have been obtained with nonmyeloablative procedures. Heavily transfused patients have an additional risk of graft failure. CASE REPORT: Herein we have reported a 4-year-old boy with DC and severe BMF at the time of transplantation, who had been transfused with nonleucodepleted blood products for 18 months. He experienced a favorable outcome after nonmyeloablative transplant conditioning using low-dose cyclophosphamide (40 mg/kg), fludarabine (180 mg/kg), and rabbit antithymocyte globulin (10 mg/kg). The patient received a peripheral stem cell graft containing 7.52 × 10(6) CD34/kg from an HLA identical sister. Graft versus host disease (GVHD) prophylaxis consisted of a short-term combination of cyclosporine and methotrexate. RESULTS: We observed rapid neutrophil engraftment on day +21 and for platelets on day +40. No early or late complications were recorded during 15 months follow-up. The patient developed only grade I skin GVHD. On day +30, chimerism assay showed 100% donor cells. CONCLUSION: Long-term follow-up is essential to establish the efficacy and safety of this procedure.

Total body irradiation prior to bone marrow transplantation--the experience of the Institute of Oncology Prof. Dr. Al. Trestioreanu Bucharest.

PURPOSE: To present the technique of total body irradiation (TBI), applied for the first time in Romania, at the Institute of Oncology Bucharest, as part of stem cell transplantation for hematological malignancies. PATIENTS AND METHODS: The total dose administered was 12 Gy at the reference point, 2 Gy/fraction, one fraction per day, 6 consecutive days, with a total dose of 8 - 11.4 Gy delivered to the lung, using Mevatron Primus linear accelerator (6 MV & 15 MV, 200-300 cGy/min in isocenter), in vivo dosimetry detectors and equipment for the reference dosimetry, personalized blocks for lung shielding sustained by polymethylmethaacrylate (PPMA) plate, Simulix HP simulator, and computer tomographic (CT) scans. Techniques used were: a) two parallel opposed anteroposterior / posteroanterior (AP/PA) fields with the patient in prone and supine position; b) two parallel opposed lateral fields with the patient placed on a lateral table, at 320 cm from the source. The percentage depth dose, tissue maximum ratio (TMR), off axis ratio (OAR) and the reference dose rate were measured for every patient's geometrical characteristics, with an uncertainty of +/- 2.2% and were used to calculate monitor units and to evaluate the dose in organs at risk (lungs, gonads, eyes etc). RESULTS: 5 patients (3 with the AP/PA technique and 2 with the lateral technique) were irradiated. All patients completed their irradiation in good clinical condition. The acute side effects were minimal (WHO grade 1: nausea/ vomiting--all patients; diarrhea--1 patient; headache--2 patients; photophobia and diplopia--1 patient; head and neck skin erythema--all patients). Because of the short follow-up period no safe evaluation of late side effects can be done. However, during this period one patient developed a non-aggressive form of chronic liver graft vs. host disease (GVHD) and one patient died due to acute GVHD. CONCLUSION: TBI as part of stem cell transplantation for hematological malignancies was successfully realized at our Institute, with favorable clinical results. This technique is easy to carry out and reproducible.