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At least 271 records · Page 15Linked to original sources
PubMed1994

T-cell acute lymphoblastic leukemia and the associated basic helix-loop-helix gene SCL/tal.

T-cell acute lymphoblastic leukemia (T-ALL) is a relatively uncommon disease, constituting only approximately 15% of newly diagnosed acute lymphoblastic leukemias (ALL) in the United States, or roughly 300 cases per year. Outside of the United States, in countries such as Egypt and India, T-ALL may represent as much as 50% of all ALL's but still remains an overall rare disease. The clinical importance of T-ALL lies in its poor responsiveness to therapy that has proved highly effective with standard B-cell precursor ALL (BCP-ALL). The scientific importance of human T-ALL has resided in its role as a cancer prototype, permitting the identification of novel genes centrally involved in both neoplastic change and normal cellular differentiation. One of these genes, SCL/tal, has received significant attention due to its intimate involvement in T-ALL, as well as in normal hematopoiesis. Although a tremendous amount has been recently discovered about SCL/tal, its exact roles in leukemogenesis and normal hematopoiesis remain obscure.

Basic Helix-Loop-Helix Proteins↗
PubMed1997

Rapid disappearance of AML1/ETO fusion transcripts in patients with t(8;21) acute myeloid leukemia following bone marrow transplantation and chemotherapy.

To assess the clinical significance of monitoring minimal residual disease in t(8;21)(q22;q22) AML, RT-PCR assay was conducted during the clinical course of 12 patients who had undergone BMT or conventional chemotherapy. Two cases relapsed after BMT and chimeric RNA was detected soon after BMT in their bone marrow cells. The other three cases, in whom chimeric RNA was not detected after BMT, are in CR at 21 to 33 months following BMT. Similarly, four out of 7 cases who showed negative chimeric RNA after completion of chemotherapy have been in CR at 11 to 34 months following completion of chemotherapy. The present findings appear different from other studies which reported the detection of AML1-ETO chimeric RNA in long-term CR patients.

Adolescent↗
PubMed1998

Acute myelomonoblastic leukemia carrying the PEBP2beta/MYH11 fusion gene.

As recurrent chromosome abnormalities in leukemia are highly associated with particular subtypes, the genetic events of specific chromosome alteration must be associated with leukemogenesis and characteristics of the disease. The chromosomal breakpoints involved in inv(16) and t(16;16) have been shown to generate the fusion gene PEBP2beta(CBFbeta)/MYH11. The PEBP2beta/MYH11 fusion transcripts in all 8 patients with M4Eo, 2 of 18 with M4, and one CML in the blastic phase were detected by using RT-PCR and Southern blotting. We demonstrated the marked expression of CD34 and c-KIT (CD117) antigens in myelomonoblastic leukemia cells from all patients carrying this fusion gene, which was in contrast to the patients with M4 but without the fusion gene. These results indicate that immunophenotypic analysis is useful for detection of leukemia with the fusion gene, and that the PEBP2beta/MYH11 fusion gene is involved in immature cells expressing CD34 and c-KIT antigens.

Artificial Gene Fusion↗
PubMed1999

[Insertion/deletion polymorphism of the gene encoding for angiotensin-converting enzyme and microalbuminuria in essential arterial hypertension].

BACKGROUND: To assess the influence of insertion/deletion polymorphism in the ACE gene on the microalbuminuria in essential hypertension. PATIENTS AND METHODS: Seventy-nine patients with essential hypertension (37 males and 42 females) (mean age 39 [7] years, body mass index 28 [4] kg/m2), never treated with antihypertensive drugs were included in the study. Urinary albumin excretion (UAE) was assessed in two different days. Ambulatory blood pressure (BP) was assessed during 24 h period. Genotype ACE gene and gene frequencies were determined by an assay based on the polymerase chain reaction (PCR). RESULTS: The distribution of phenotypes was: II = 14 (17%), ID = 32 (40%) and DD = 33 (43%). The mean for UAE tended to be higher in the DD group (53.82 [88.4] mg/24 h) than ID (27.8 [39.6] mg/24 h) and II (23.8 [16.7] mg/24 h). Likewise, the average for UAE were higher in the DD group than in the II + ID group (26.6 [34.0] mg/24 h) (p = 0.06), although the differences did not achieved statistical significance. The relationship between log UAE and 24-hour mean BP was significantly higher in the DD group (r2 = 0.232; p = 0.005) than that observed in the other groups (r2 = 0.060; p = 0.101). CONCLUSIONS: In the present study with young patients with essential hypertension, in DD genotype, UAE seems to be higher and more dependent of BP levels than in the other hypertensives.

Adult↗
PubMed1999

3' BCR recombines with IGL locus in BCR-ABL-positive philadelphia-negative chronic myeloid leukemia.

We have isolated the 3' BCR breakpoint junction of a complex BCR-ABL1 rearrangement found in leukemic cells with a cytogenetically normal karyotype, and the corresponding germline fragment that spanned the 3' BCR recombination site. Fluorescence in situ hybridization localized the 3' BCR recombination site to 22q11, about 350-600 kb proximal to BCR. Restriction map and DNA sequence comparisons indicated that 3' M-Bcr had recombined at a site within the variable region (Itv Region IV) of the immunoglobulin lambda (IGL) locus. Somatic rearrangement of DNA sequences (variable, joining, and constant regions) within the IGL locus, as in other Ig and TCR loci, represents the basis for human antibody diversity. Misrecombination of these somatically rearranging sites has been associated with chromosomal rearrangements in lymphoid leukemia and lymphoma, but there are no previous descriptions of IGL involvement in genomic aberrations associated with myeloid leukemia. Genes Chromosomes Cancer 26:366-371, 1999.

3' Untranslated Regions↗
PubMed2000

The t(5;17) acute promyelocytic leukemia fusion protein NPM-RAR interacts with co-repressor and co-activator proteins and exhibits both positive and negative transcriptional properties.

The t(5;17) variant of acute promyelocytic leukemia (APL) fuses the genes for nucleophosmin (NPM) and the retinoic acid receptor alpha (RARalpha). Two NPM-RAR molecules are expressed as a result of alternative RNA splicing. Both contain RARalpha sequences that encode the DNA binding, heterodimerization, and ligand activation domains of RARalpha. This study was designed to test the ability of these fusion proteins to act as transcriptional activators of retinoic acid responsive promoters. The NPM-RAR fusion proteins bind to retinoic acid response element sequences as either homodimers or as heterodimers with RXR. Transcription of retinoic acid-inducible promoters is activated by the fusion proteins in the presence of retinoic acid. The level of transactivation induced by the NPM-RAR fusions differs from the level of transactivation induced by wild-type RARalpha in both a promoter and cell specific fashion, and more closely parallels the pattern of activation of the PML-RAR fusion than wild-type RARalpha. In addition, NPM-RAR decreases basal transcription from some promoters and acts in a dominant-negative fashion when co-transfected with wild-type RARalpha. Both NPM-RAR and PML-RAR interact with the co-repressor protein SMRTe in a manner that is less sensitive than RARalpha to dissociation by retinoic acid. Retinoic acid induces binding of the co-activator protein RAC3. These data indicate that the NPM-RAR fusion proteins can modulate expression of retinoid-responsive genes in a positive or negative manner, depending on context of the promoter, and lend support to the hypothesis that aberrant transcriptional activation underlies the APL phenotype. (Blood. 2000;95:2683-2690)

Chromosomes, Human, Pair 17↗
PubMed2000

An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15).

The high frequency of the t(3;12)(q27-28;q14-15) in lipomas and pulmonary chondroid hamartomas (PCHs) makes the HMGIC-LPP fusion gene the most common fusion gene in a human tumor known so far. Nevertheless, there is no in-depth molecular analysis of the HMGIC-LPP fusion transcripts in PCHs. Certainly, a possible molecular variability of the HMGIC-LPP fusion may contribute to a better understanding of the histologic differences between lipomas and PCHs and the intratumoral histologic heterogeneity of PCHs. By RT-PCR and restriction analysis, we have investigated the HMGIC-LPP fusion transcripts in a series of 13 PCHs with t(3;12)(q27-28;q14-q15). HMGIC-LPP fusion transcripts of identical size were found in all PCHs tested. In all tumors investigated, the fusion transcripts had the same structure, i.e., exons 1 to 3 of HMGIC and exons 9 to 11 of LPP encoding a protein composed of three AT-hooks and two LIM-domains. Our results clearly show that neither the histologic differences between lipomas and PCHs nor the histologic heterogeneity of PCHs can be explained by a molecular diversity of the HMGIC-LPP fusion transcript.

Chromosomes, Human, Pair 12↗