Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.

Fanconi anemia (FA) is an inherited disease with congenital abnormalities and an extreme risk of acute myeloid leukemia (AML). Genetic events occurring during malignant transformation in FA and the biology of FA-associated AML are poorly understood, but are often preceded by the development of chromosomal aberrations involving 3q26-29 in bone marrow of FA patients. We report here the molecular cytogenetic characterization of FA-derived AML cell lines SB1685CB and SB1690CB by conventional and array comparative genomic hybridization, fluorescence in situ hybridization, and SKY.

Apoptosis in small intestinal epithelial from p53-null mice: evidence for a delayed, p53-independent G2/M-associated cell death after gamma-irradiation.

The death of small intestinal epithelial cells has been characterized and quantitated after irradiation of mice rendered homozygously null for the p53 gene. In wild-type animals homozygous for p53 a rapid (4.5 h) elevation of p53 protein was observed in the proliferative compartment of the crypts after 8 Gy of irradiation.

Inhibition by uridine but not thymidine of p53-dependent intestinal apoptosis initiated by 5-fluorouracil: evidence for the involvement of RNA perturbation.

The epithelia from the crypts of the intestine are exquisitely sensitive to metabolic perturbation and undergo cell death with the classical morphology of apoptosis. Administration of 40 mg/kg 5-fluorouracil (5-FU) to BDF-1 p53+/+ mice resulted in an increase in p53 protein at cell positions in the crypts that were also those subjected to an apoptotic cell death. In p53-/- mice apoptosis was almost completely absent, even after 24 hr.

Effect of low dose oxandrolone and testosterone treatment on the pituitary-testicular and GH axes in boys with constitutional delay of growth and puberty.

Objective: To investigate the effect of low dose oxandrolone and testosterone on the pituitary-testicular and GH-IGF-I axes.

Design: Prospective double-blind placebo-controlled trial.

Patients: Sixteen boys with constitutional delay of growth and puberty (CDGP) with testicular volumes 4-6 ml were randomized to 3 months treatment: Group 1 (n = 5), daily placebo: Group 2 (n = 5), 2.

An open phase I study to assess the biological effects of a continuous intravenous infusion of Interleukin-3 followed by Granulocyte Macrophage-Colony Stimulating Factor.

To assess any synergistic stimulatory effect in vivo of Interleukin 3 (IL-3) and Granulocyte Macrophage-Colony Stimulating Factor (GM-CSF) upon white cell and platelet counts, toxicity and antitumour effect, we conducted this phase I study. IL-3 0.25, 0.

Degree of activation of the pituitary-testicular axis in early pubertal boys with constitutional delay of growth and puberty determines the growth response to treatment with testosterone or oxandrolone.

Early pubertal boys (testicular volume, 4-6 mL) with constitutionally delayed growth and puberty were randomized to 3 months of treatment after a baseline 12-h overnight hormone profile: group 1 (n = 5), daily placebo; group 2 (n = 5), 2.5 mg oxandrolone daily; or group 3 (n = 6), 50-mg testosterone monthly im injections. LH and GH profiles (15-min samples) were analyzed by peak detection (Pulsar), Fourier transformation, and autocorrelation.

Genitourinary tumors in the families of children with renal tumors.

The occurrence of genitourinary tumors in the relatives of a population-based series of 218 children diagnosed with renal tumors was investigated. Family data on 92% (176 of 192) of Wilms' tumor (WT) patients and 77% (20 of 26) of other renal tumor patients were obtained. In all, 21 genitourinary tumors in first-degree relatives in 19 families were ascertained, together with 30 such tumors in second-degree relatives.

Dimethanesulphonate esters in receptor mapping studies. 2. Antitumour activities of alkyl and alkoxy dimethanesulphonates substituted on a benzene nucleus.

The antitumour activities of 15 novel aromatic dimethanesulphonate esters were studied. Several alkyl and alkoxy compounds have shown good antitumour activity whilst similar isomers have proved ineffective as antitumour agents. These differences in activity have been correlated with the length of the sidechain substituents and their relative flexibilities.