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A total of 46 patients with primary myelofibrosis (PMF) (median age 51 years), underwent an allogeneic hemopoietic SCT (HSCT) after a thiotepa-based reduced-intensity conditioning regimen. The median follow-up for surviving patients is 3.8 years. In multivariate analysis, independent unfavorable factors for survival were RBC transfusions >20, a spleen size >22 cm and an alternative donor—24 patients had 0–1 unfavorable predictors (low risk) and 22 patients had 2 or more negative predictors (high risk). The overall actuarial 5-year survival of the 46 patients is 45%. The actuarial survival of low-risk and high-risk patients is, respectively, 77 and 8% (P<0.0001); this is because of a higher TRM for high-risk patients (RR, 6.0, P=0.006) and a higher relapse-related death (RR, 7.69; P=0.001). In multivariate Cox analysis, the score maintained its predictive value (P=0.0003), even after correcting for donor–patient age and gender, Dupriez score, IPSS (International Prognostic Scoring System) score pre-transplant and splenectomy. In conclusion, PMF patients undergoing an allogeneic HSCT may be scored according to the spleen size, transfusion history and donor type; this scoring system may be useful to discuss transplant strategies. [ABSTRACT FROM AUTHOR]

A 41-year-old healthy Caucasian male showed an unidentifiable direct AB0 group and a B group by an indirect method revealing the presence of natural antibodies anti-A1 and anti-A2. Mixed fields with anti-B and anti-A+B antisera led to the conclusion that blood group B and 0 cell populations were present in a 1:1 ratio. A negative anamnesis for both transplantation and transfusion suggested a chimerism. DNA analysis of tissues revealed a tetragametic chimerism due to an apparent double parental contribution of nuclei in a phenotypically normal man. [ABSTRACT FROM AUTHOR]

Presents a study that evaluated the effectiveness of allogeneic bone marrow transplantation (BMT) as a therapeutic approach in patients with acute lymphoblastic leukemia. Percentage of patients with CML who experienced a relapse after bone marrow transplantation; Analysis of the effect of donor lymphocyte infusion in patients relapsing after BMT; Details on the development of a single-strand conformational polymorphism polymerase chain reaction strategy; Implications of the results.

Preparative regimens without total body irradiation (TBI) have been reported for alternative donor hemopoietic stem cell transplants (HSCT). Between 7 September 1994 and 7 June 1999 48 patients with advanced hematologic malignancies were conditioned with thiotepa (THIO) 15 mg/kg, cyclophosphamide (CY) 150 mg/kg and antithymocyte globulin (ATG). Donors were HLA mismatched family members (1–2 antigens) (FAM) (n = 24, median age 31 years) or HLA matched unrelated donors (UD) (n = 24, median age 34 years). GVHD prophylaxis was cyclosporine and methotrexate. Stem cell source was peripheral blood (n = 8) or bone marrow (n = 40). Hematologic recovery was seen in 42/46 (91%) evaluable patients and complete chimerism in 31/37 patients (85%). Acute GVHD grades III–IV were seen in 10/46 patients surviving 10 days (21%) and extensive chronic GVHD in 2/36 patients surviving 100 days (5%). Twenty-six patients died (54%), eight of recurrent disease (17%) and 18 of transplant-related complications (37%): main causes of TRM were GVHD (15%), infections (15%) and graft failure (4%). Twenty-two patients (46%) survive with a median follow-up of 877 days (287–1840). The actuarial 3-year survival is 49% for FAM and 42% for UD transplants. Results obtained with this regimen in unrelated grafts for advanced CML (n = 15) were not significantly different when compared to 21 concurrent UD grafts for advanced CML prepared with CY-TBI. In conclusion, the combination of THIO-CY-ATG allows engraftment of alternative donor hemopoietic stem cells. Results are similar when using unrelated matched donors or partially mismatched family donors, and not significantly different when compared to patients conditioned with CY-TBI. Bone Marrow Transplantation (2000) 26, 1305–1311. [ABSTRACT FROM AUTHOR]

A 14-year-old patient with acquired very severe aplastic anemia (VSAA) underwent bone marrow transplantation (BMT) from his HLA-identical brother. Preparative therapy was cyclophosphamide (CY) 200 mg/kg over 4 days. GVHD prophylaxis was with cyclosporin A (CsA) for a year. After an 8 year follow-up during which the patient was well with normal blood counts, graft failure occurred. At this time marrow chimerism studies demonstrated that 85% of hemopoiesis was of recipient origin. The patient was re-engrafted from the same donor after conditioning with CY 200 mg/kg over 4 days plus rabbit antithymocyte globulin (ATG) 3.5 mg/kg/day for 3 days. After 140 days follow-up he has a normal blood count. The possible causes of the graft failure are discussed. This case demonstrates that, although rarely, very late graft failure may occur after BMT for AA and highlights the need for long-term monitoring even in apparently successfully transplanted patients. [ABSTRACT FROM AUTHOR]

The YTTTC pentanucleotide short tandem repeat polymorphism HumCD4 was studied in an Italian population sample. PCR products were compared to an allelic ladder by manual PAGE and silver staining. A total of 6 alleles ranging from 5 to 12 repeats were represented in the analysed sample, of which 3 alleles (10, 6 and 5 repeats) were predominant and displayed a combined frequency of 0.91. Successful amplification was obtained from different sources such as blood and urine stains, teeth and paraffin embedded tissues. Results were also determined in cases of severely degraded DNA. We consider that the HUMCD4 polymorphism may be a useful tool for individual identification, paternity testing, population studies and have also employed this locus to monitor engraftment of bone marrow transplantation. [ABSTRACT FROM AUTHOR]

A tetranucleotide tandem repeat locus on chromosome 19 (D19S253) was analysed. PCR products were detected by denaturing polyacrylamide gels with fluorescent-based technology. This study has confirmed a polymorphism with 9 alleles ranging from 209 to 241 by with a simple repeat structure arranged from 7 to 15 repeats. Family studies confirmed mendelian inheritance of alleles. The efficiency on DNA extracted from bloodstains and cigarette butts has been evaluated. The protocol has shown sensitivity and reproducibility. [ABSTRACT FROM AUTHOR]