Genes (30)
Species: human : 30 | |
Human | TET1 | 80312 | tet methylcytosine dioxygenase 1 | demonstrated that TET1 is fused to MLL in a case of pediatric acute myeloid leukemia containing the t(10;11)(q22;q23) | Human | NOM1 | 64434 | nucleolar protein with MIF4G domain 1 | Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia. | Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia. The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. | Human | PRAME | 23532 | preferentially expressed antigen in melanoma | Loss of PRAME is associated with childhood acute myeloid leukemia Our results suggest that the expression of PRAME is an indicator of favorable prognosis and could be a useful tool for monitoring minimal residual disease in childhood AML. expression of PRAME is an indicator of favorable prognosis and could be a useful tool for monitoring minimal residual disease in childhood AML Clinical implications of PRAME gene expression in childhood acute myeloid leukemia. | Human | MYST4 | 23522 | | Recently, it was shown that t(10;16)(q22;p13) fuses the MORF and CREBBP genes in a case of childhood acute myeloid leukemia (AML) M5a, with a complex karyotype containing other rearrangements. | Human | TBC1D9 | 23158 | TBC1 domain family, member 9 (with GRAM domain) | CD34+ leukemic subpopulation predominantly displays lower spontaneous apoptosis and has higher expression levels of MDR19TBC1 domain family member 9 (with GRAM domain) ) genes than CD34- cells in childhood AML | Human | PSIP1 | 11168 | PC4 and SFRS1 interacting protein 1 | We report a novel fusion of the NUP98 and LEDGF genes in a pediatric AML with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes exhibiting the same chromosomal rearrangement. | Human | MLLT11 | 10962 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 | Elevated expression of the AF1q gene, an MLL fusion partner, is an independent adverse prognostic factor in pediatric acute myeloid leukemia. AF1q expression may correlate with clinical outcome in pediatric AML, although it is not clear if AF1q is simply a marker of a more primitive phenotype or contributes directly to leukemogenesis. We determined the expression of the AF1q gene by reverse transcriptase-polymerase chain reaction in 64 pediatric acute myeloid leukemia (AML) patients treated on Children;s Cancer Group clinical trial CCG-2891 and correlated its expression level to clinical characteristics and outcome. | Human | ABCC4 | 10257 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | Response to chemotherapy and expression of the genes encoding the multidrug resistance-associated proteins MRP2, MRP3, MRP4, MRP5, and SMRP in childhood acute myeloid leukemia. | Human | ABCC5 | 10057 | ATP-binding cassette, sub-family C (CFTR/MRP), member 5 | Response to chemotherapy and expression of the genes encoding the multidrug resistance-associated proteins MRP2, MRP3, MRP4, MRP5, and SMRP in childhood acute myeloid leukemia. | Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | results support importance of adiponectin in the pathogenesis of childhood AML | Human | ABCC3 | 8714 | ATP-binding cassette, sub-family C (CFTR/MRP), member 3 | Response to chemotherapy and expression of the genes encoding the multidrug resistance-associated proteins MRP2, MRP3, MRP4, MRP5, and SMRP in childhood acute myeloid leukemia. | Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | Here, we report on the results of a molecular screening performed on 181 additional unselected patients, enrolled in participating institutions of the Associazione Italiana Ematologia Oncologia Pediatrica-AML Study Group, to provide a more accurate picture of the prevalence, spectrum and distribution of PTPN11 mutations in childhood AML and to investigate their clinical relevance. These characteristics identify a subset of pediatric AML with PTPN11 mutations that share clinical and biologic features with JMML. Somatic PTPN11 mutations in childhood acute myeloid leukaemia. | Human | ABCB1 | 5243 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | Contrary to adult patients, expression of this multidrug resistance gene fails to define a poor prognostic group in childhood AML | Human | NUP98 | 4928 | nucleoporin 98kDa | We report a novel fusion of the NUP98 and LEDGF genes in a pediatric AML with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes exhibiting the same chromosomal rearrangement. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. BACKGROUND AND OBJECTIVES: The aim of this study was to determine the incidence of rearrangements of NUP98 (the gene coding for nucleoporin 98kDa protein) in childhood acute myeloid leukemia (AML) and selected patients with 11p13-15 rearrangements. Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia. INTERPRETATION AND CONCLUSIONS: The observed frequency of 1.7% confirmed the low incidence of NUP98 rearrangements in childhood AML. | Human | NRAS | 4893 | neuroblastoma RAS viral (v-ras) oncogene homolog | 54% of childhood CBF-AML had RTKs and/or Ras mutations | Human | NPM1 | 4869 | nucleophosmin (nucleolar phosphoprotein B23, numatrin) | base sequences are given for NPM1 mutated childhood AML patients; consistent deletion/insertion features are presented study could not find any NPM gene mutations in pediatric acute myeloid leukemia with normal karyotype Frameshift mutations in exon 12 of the nucleophosmin gene (NPM1) result in aberrant cytoplasmic localization of the NPM protein (NPMc(+); NPMc(+) is relatively rare in childhood AML, particularly in younger children Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. | Human | MYH11 | 4629 | myosin, heavy chain 11, smooth muscle | This is the first clinicopathological study and documentation of the incidence of CBFbeta-MYH11 in childhood AML of Chinese in Hong Kong. Class discriminating genes were identified for each of the major prognostic subtypes of pediatric AML, including t(15;17)[PML-RARalpha], t(8;21)[AML1-ETO], inv(16) [CBFbeta-MYH11], MLL chimeric fusion genes, and cases classified as FAB-M7. Childhood acute myeloid leukemia with CBFbeta-MYH11 rearrangement: study of incidence, morphology, cytogenetics, and clinical outcomes of Chinese in Hong Kong. We analyzed 43 consecutive cases of pediatric acute myeloid leukemia (AML) for the presence of the CBFbeta-MYH11 rearrangement using molecular techniques in a regional hospital in Hong Kong. | Human | MLL | 4297 | | demonstrated that TET1 is fused to MLL in a case of pediatric acute myeloid leukemia containing the t(10;11)(q22;q23) | Human | KRAS | 3845 | Kirsten rat sarcoma viral oncogene homolog | 54% of childhood CBF-AML had RTKs and/or Ras mutations | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | c-KIT but not CSF1R mutations play a role in the leukemogenesis of childhood CBF-AML study found low frequency of KIT gene mutation in pediatric acute myeloid leukemia with inv(16)(p13q22) identified a tandem repeat involving exons 11 and 12 in childhood AML that induces cell proliferation, and identified constituitively activated pathways and proteins phosphorylated N822 mutation of KIT gene is frequent in pediatric acute myeloid leukemia patients with t(8;21) in Japan | Human | ITGA2B | 3674 | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | The diagnostic value of the pan-myeloid reagents CD13, CD33, and CDw65 for the recognition of childhood acute myeloid leukemia (AML) was high with a sensitivity of 98% (positivity of at least one of these antigens), whereas, with the exception of CD41 for French American British (FAB) subtype M7, the expression of single cell-surface antigens showed no correlation with morphologic or cytogenetic subgroups. | Human | FLT3 | 2322 | fms-related tyrosine kinase 3 | FLT3/internal tandem duplication(ITD) mutations confer a particularly poor prognosis in pediatric acute myelogenous leukemia patients | Human | SLC29A1 | 2030 | solute carrier family 29 (equilibrative nucleoside transporter), member 1 | decreased expression of human equilibrative nucleoside transporter, which transports ara-C across the cell membrane, appears to be a major factor in ara-C resistance in childhood AML | Human | CSF1R | 1436 | colony stimulating factor 1 receptor | c-KIT but not CSF1R mutations play a role in the leukemogenesis of childhood CBF-AML |
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