Double trisomy 8 and 21 in acute myelocytic leukemias, one with rearrangement of the RUNX1 gene.

Fluorescence in situ hybridization analysis was carried out in five patients with acute myeloblastic leukemia of various French-American-British subtypes and with double trisomy of chromosomes 8 and 21. PML-RARA fusion was detected with appropriate molecular probes in one patient with acute promyelocytic leukemia without t(15;17). Two PAC probes covering the 5' and 3' part of the RUNX1 gene were used in the four other patients.

Chromosome studies of in vitro senescent lymphocytes: nonrandom trisomy 2.

Chromosome studies were carried out in long-term (142 and 184 d) human lymphocyte in vitro cultures in order to investigate the cytogenetic status of aging lymphocytes. The female donors were subdivided into three subgroups according to their age: 20-40 year-old (three individuals), 70-90 year-old (five persons), and centenarians (three persons). Besides some aneuploidy and structural abnormalities, telomere fusions were detected in all donor cells, and associations of acrocentric chromosomes were found in six persons in the three age-groups.

Transcriptional analysis of the orphan nuclear receptor constitutive androstane receptor (NR1I3) gene promoter: identification of a distal glucocorticoid response element.

The constitutive androstane receptor (CAR, NR1I3) transcriptionally activates cytochrome P450 2B6, 2C9, and 3A4 when activated by xenobiotics, such as phenobarbital. Information on the human CAR promoter was obtained by searching the NCBI human genome database. A contig (NT026945) corresponding to a fragment of chromosome 1q21 was found to contain the complete CAR gene.

HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis.

The most frequent oncogenic activation events characterized in childhood T acute lymphoblastic leukemia (T-ALL) result in the transcriptional activation of genes coding for transcription factors. The main genes are TAL1/SCL, a member of the basic region helix-loop-helix gene family, and HOX11L2, a member of the homeobox-containing protein family. To gain insight into the pathogenesis of this type of hematologic malignancy, we analyzed 28 T-ALL samples.

Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7.

Translocation t(1;22)(p13;q13) is associated with a peculiar subtype of acute megakaryocytic leukemia (M7) occurring in infants. We have recently characterized a fusion gene, OTT-MAL, resulting from this translocation. We now report three additional cases and show that this gene fusion is present in all five t(1;22) cases studied to date.