A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.

Background: Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients in gene therapy trials.

Objective: To determine the subtype of Fanconi anaemia patients in Spain, a Mediterranean country with a relatively high population (23%) of Fanconi anaemia patients belonging to the gypsy race.

B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency.

An in utero paternal CD34(+) cell transplant was performed in a T-B+NK+ SCID fetus. We report here the results of the 3-year humoral immune reconstitution study. The methods used were ApoB VNTR typing, flow cytometry, nephelometry, hemagglutination, ELISA, ELISPOT and lymphoproliferative assays.

Fluorescence in situ hybridization study of TEL/AML1 fusion and other abnormalities involving TEL and AML1 genes. Correlation with cytogenetic findings and prognostic value in children with acute lymphocytic leukemia.

Background And Objectives: The TEL/AML1 fusion is the most common genetic abnormality found in childhood acute lymphoblastic leukemias (ALL). Although it is very difficult to identify by conventional cytogenetic techniques it can be readily detected using fluorescence in situ hybridization (FISH). We carried out cytogenetic and FISH studies on 42 children with ALL in order to know the frequency of this translocation in our population, the incidence of TEL and/or AML1 gene alterations, and their correlation with clinical evolution and prognosis.

[The role of intraoperative radiotherapy in oncological pediatric surgery].

Conventional external beam radiation has proved its profit in pediatric tumors; but its complications have limited it in therapeutical approach. Intraoperative radiotherapy delivers a high single dose in residual tumor or high risk areas during surgery. In our center, during last two years, 7 patients have been candidates to surgery with intraoperative radiotherapy (the age range was between 5 months-17 years; mean 8.

Fanconi's anaemia: case history of six Spanish families.

We report on the results obtained in 6 Fanconi's anaemia families (FA) (parents, brothers and sisters) affected by at least one of the symptoms usually observed in FA. The 6 FA families were studied from 1974 to 1990, all having located in Madrid (Spain) but with different ethnic origin: 3 families are of Spanish descent and the other 3 are gipsy families. All showed characteristics of the disease, including malformations, stunted growth, microcephaly, skin hyperpigmentation, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (SOD) activity.