| 27705736 | Mutation | Castrate Resistant Prostate Carcinoma | We describe two cases of metastatic CRPC with a translocation in the MLL gene detected by a specific fluorescent in situ hybridization (FISH) assay.
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| 26846095 | Mutation | Acute Myeloid Leukemia | We present an unusual case of retro-orbital myeloid sarcoma as an initial presentation of acute myeloid leukemia in a 43-year-old Caucasian man, with rearrangement of chromosome 11q23 involving the MLL gene.
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| 26237430 | Mutation | Acute Myeloid Leukemia | Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications.
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| 26159683 | Mutation | Acute Myeloid Leukemia | Contrary to previous findings, the subtypes of AML with t(9;11)(p22;q23)MLLT3-MLL, AML without maturation and acute myelomonocytic leukemia emerged to be indicative of poor outcome
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| 25948177 | Mutation | Acute Lymphoblastic Leukemia | Cytogenetic abnormalities of 163 children with newly diagnosed ALL (0-17 years of age) were evaluated by conventional cytogenetic analysis and fluorescent in situ hybridization findings. Chromosome abnormalities were detected in 87.7% of patients (143/163). The ploidy levels most frequently observed among ALL patients were high hyperdiploidy (51-67 chromosomes) (45 cases, 27.6%), Chromosomes X and 21 were gained in 100% of these cases. The most common genetic alterations were t(12;21)/ETV6/RUNX1 (26 cases, 16.0%), followed by t(1;19)/TCF3/PBX1 (13 patients, 8.0%), t(4;11)/MLL rearrangement and t(8;14) IGH/MYC (6 cases, 3.7%), t(9;22)/BCR/ABL(2 cases, 1.2%), and iAMP21 (1 patient, 0.6%). The no-classical structural abnormalities included dup(1q) in 20.2%, del(6q) and del(9p) in 10.4%, del(12p) in 12.9% and del(13q) in 5.5%.
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| 25919550 | Mutation | Acute Lymphoblastic Leukemia | To evaluate the efficiency of one-step multiplex RT-PCR for identifying four common fusion transcripts (TEL/AML1, E2A/PBX1, MLL/AF4 and BCR/ABL) in children with acute lymphoblastic leukemia (ALL). TEL/AML1 was found in 12 cases (the length of products was 298 bp in 9 cases and 259 bp in 3 cases), E2A/PBX1 was found in 3 cases (the length of products was 373 bp), BCR/ABL was found in 1 case (the length of products was 2124 bp), and MLL/AF4 was found in 7 cases (the length of products was 427 bp in 1 case and 673 bp in 6 cases) using one-step multiplex RT-PCR combined with DNA sequencing.
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| 25892123 | Mutation | Acute Myeloid Leukemia | In this report, we describe a case study of a 7-month-old boy who presented with AML-M4; however, no obvious 11q23 rearrangement was detected in the analyzed karyotype. Fluorescence in situ hybridization evaluation showed a nonstandard signal distribution in blast cells, corresponding to the presence of two KMT2A copies and one additional copy of 5'-KMT2A inserted into the long arm of the X chromosome (ins(X;11)(q28;q23q23)).
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| 25843568 | Mutation | Acute Lymphoblastic Leukemia | We present a rare case of a child with acute lymphoblastic leukemia with a complex karyotype in which the classical t(9;11) (p22;q23) was cryptically relocated into a third chromosome in a balanced three-way translocation. At the genome level, however, the MLL-MLLT3 three-way translocation still displayed both reciprocal fusion transcripts.
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| 25805812 | Underexpression; Mutation | Acute Myeloid Leukemia | Here, we investigated the functional and prognostic implications of CXXC5 expression in AML. CXXC5 mRNA was downregulated in AML with MLL rearrangements, t(8;21) and GATA2 mutations. In gene-expression profiling, lower CXXC5 expression was associated with upregulation of cell-cycling genes and co-downregulation of genes implicated in leukemogenesis (WT1, GATA2, MLL, DNMT3B, RUNX1).
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| 25725124 | Mutation | Acute Myeloid Leukemia | Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23.
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| 25699572 | Mutation | B Acute Lymphoblastic Leukemia | Here we describe a 69-year-old female with adult B cell precursor acute lymphoblastic leukemia (BCP-ALL) with hyperleukocytosis and immunophenotype CD10- and CD19+ with cryptic MLL rearrangements.
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| 25692130 | Mutation | Acute Lymphoblastic Leukemia | ETV6-RUNX1 was detected in 21 (7.4%) patients, TCF3-PBX1 in 20 (7.1%) patients, BCR-ABL1 in 5 (1.8%) patients, and MLL rearrangements in 4 (1.4%) patients.
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| 25567132 | Mutation | Acute Myeloid Leukemia | High EVI1 expression was detected mainly in myelomonocytic-lineage (designated as e-M4/M5 subtype) leukemia with MLL rearrangements and in megakaryocytic-lineage (designated as e-M7 subtype) leukemia, and its prognostic association was observed in the e-M4/M5 subtype but not in the e-M7 subtype
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| 25493458 | Mutation | bilateral ovarian B-lineage lymphoblastic lymphom | We present a case of an infant with bilateral ovarian B-lineage lymphoblastic lymphoma with MLL gene rearrangement.
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| 25422805 | Mutation | Acute Myeloid Leukemia | We aimed to evaluate the frequency of MLL/AF9 fusion gene in de novo AML patients, its impact on clinical features, and its prognostic significance. Four patients with MLL/AF9 fusion gene were newly diagnosed, two cases were at relapse and no patient at remission showed positivity.
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| 25322685 | Mutation | Acute Myeloid Leukemia | By performing targeted amplicon sequencing in 38 MLL-AF9(+) and 125 cytogenetically normal AML patient samples, we found a high additional mutation rate for genes involved in growth factor signaling in 79% of all MLL-AF9(+) samples, which could lead to a possible benefit of this cohort.
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| 25081372 | Mutation | Acute Myeloid Leukemia | The specific t(10;11)(p12;q23) MLL translocation is a rare recurrent translocation partner, most commonly seen in pediatric and young adult AML.
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| 24828867 | Mutation | Acute Myeloid Leukemia | Interestingly, we found that EVI1 expression was negatively associated with presence of the Philadelphia chromosome (Ph+) and MLL rearrangements in AML.
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| 24764564 | Mutation | Acute Myeloid Leukemia | We used a functional genetic approach to uncover that AML cells driven by MLL-AF9 are exceptionally reliant on the cell-cycle regulator CDK6, but not its functional homolog CDK4, and that the preferential growth inhibition induced by CDK6 depletion is mediated through enhanced myeloid differentiation.
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| 24744582 | Mutation | Gastric Carcinoma | Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs.
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| 24739837 | Mutation | Acute Lymphoblastic Leukemia | We report a case of CD10+, CD19- pediatric ALL with rearrangements of MLL gene as a result of t(9;11)(p21;q23), thus conferring a very poor prognosis.
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| 24695851 | Mutation | Acute Myeloid Leukemia | Altogether, these data point to a novel role of the MLL-AF6 chimera and show that its gene partner, AF6, is crucial in AML development.
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| 24659740 | Mutation | Acute Myeloid Leukemia | In multivariate analysis, the independent predictors of higher cumulative incidence of relapse were unfavorable karyotype (P = 0.013) and randomization in the control arm (P = 0.007) in the whole cohort, and MLL partial tandem duplications (P = 0.014) and DNMT3A mutations (P = 0.010) in CN-AML.
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| 24612538 | Mutation | Acute Leukemia | A total of 84 patients with acute leukemia (AL) who had MLL rearrangements detected by florescence in situ hybridization (FISH) were enrolled in the study.
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| 24564228 | Mutation | Acute Leukemia | Acute leukemia in early age (EAL) is characterized by acquired genetic alterations such as MLL rearrangements (MLL-r). IKZF1 and CEBPE variants seem to play a minor role in genetic susceptibility to EAL, while ARID5B rs10821936 increased the risk of MLL-MLLT3.
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| 24370025 | Mutation | Acute Myeloid Leukemia | This study was aimed to explore the value of detecting the expression levels of MLL-AF9 (mixed lineage leukemia, MLL) fusion gene during the treatment of acute myeloid leukemia (AML) by real-time fluorescence quantitative PCR (RQ-PCR), and to evaluate its prognostic significance in monitoring minimal residual disease (MRD). The results showed that the expression levels of MLL-AF9 fusion gene in patients at initial diagnosis were 1.3%-55.28%.
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| 24310817 | Mutation | Therapy related acute Leukemia | Using asymmetric multiplex PCR strategy followed by direct DNA sequencing, we characterized the genomic breakpoints of the MLL and AFF1 genes in two patients who developed t-AL with t(4;11)(q21;q23).
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| 24156422 | Mutation | Acute Erythroleukemia | The aim of this study was to investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL, AML-M6). The molecular biological detection found that the poor prognosis gene existed in 5 cases [38.5% (5/13)], including 3 cases with MLL-MLL fusion gene, 1 case with MLL mutation, and 1 cases with NRAS gene mutation, the abnormal genes were not detected in remainder 8 cases.
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| 24150221 | Mutation | Leukemia | RNA-seq analysis showed reversible global gene expression patterns between these interchangeable leukemia and iPS cells on activation or reactivation of MLL-AF9, suggesting a sufficient epigenetic force in driving the leukemogenic process.
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| 24057258 | Mutation | Acute Lymphoblastic Leukemia | In this study, we showed that microRNA (miR)-142-3p was significantly downregulated in ALL patients expressing MLL-AF4.
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| 23893660 | Mutation | B Acute Lymphoblastic Leukemia | To gain insight into the genomic landscape of infant MLL-AF4 pro-B ALL we performed whole genome sequencing of diagnostic leukemic blasts and matched germline samples from three MLL-AF4 pro-B ALL infants. Our analysis revealed few somatic changes (copy number abnormalities, loss of heterozygosity, or single nucleotide variants), demonstrating that only a very small number of mutations are necessary to generate infant MLL-leukemia.
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| 23823658 | Mutation | Acute Lymphoblastic Leukemia | In univariate analyses, age (≥10 years), white blood cell counts (>100 × 10(9)/l), t(9;22)(q34;q11), MLL rearrangements, near-haploidy and deletions of ATP10A, IKZF1, SPRED1 and the pseudoautosomal 1 regions on Xp/Yp were significantly associated with decreased 10-year event-free survival, with IKZF1 abnormalities being an independent risk factor in multivariate analysis irrespective of the risk group.
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| 23728943 | Mutation | Hepatocellular Carcinoma | The NFE2L2-KEAP1 and MLL pathways are recurrently mutated in multiple cohorts of HCC.
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| 23676645 | Mutation | Acute Leukemia | The leukemia cells exhibited myeloid (CD13 and MPO) and B cell (CD19 and CD79a) phenotypes. Chromosomal analysis and RT-PCR assay revealed tumor cells with the MLLT3-MLL fusion gene.
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| 23666221 | Mutation | Acute Myeloid Leukemia | We here report a 2-year-old female with relapsed acute myeloid leukemia (AML) with MLL gene rearrangement in the bone marrow and central nervous system.
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| 23649466 | Mutation | Leukemia | Leukemias carrying MLL rearrangements are quintessential cancers driven by dysregulated epigenetic mechanisms in which fusion proteins containing N-terminal sequences of MLL require few or perhaps no additional mutations to cause human leukemia.
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| 23630019 | Mutation | Acute Myeloid Leukemia | Their 4-year overall survival (OS) and event-free survival (EFS) were poor (33.3% in NUP98-NSD1-positive and 38.9% in NUP98-NSD1-like patients) compared with 100 NUP98-NSD1 signature-negative patients (4-year OS: 86.0%, 4-year EFS: 72.0%). Interestingly, t(7;11)(p15;p15)/NUP98-HOXA13, t(6;11)(q27;q23)/MLL-MLLT4 and t(6;9)(p22;q34)/DEK-NUP214, which are known as poor prognostic markers, were found in NUP98-NSD1-like patients.
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| 23591360 | Mutation | Acute Lymphoblastic Leukemia | Infant ALL Interfant-99 study found that MLL rearrangement, age younger than 6 months, poor response to a prednisone prophase and high WBC count were strong independent predictive factors for poor prognosis in infants with ALL.
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| 23484688 | Mutation | Acute Promyelocytic Leukemia | This study was aimed to explore whether multiple common gene mutations of leukemia synergistically involved in acute promyelocytic leukemia (APL) pathogenesis, and to investigate their relevance to clinical features, cytogenetics and molecular risk stratification. Next, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively.
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| 23432364 | Mutation | Acute Myeloid Leukemia | Moreover, we present first evidence that MLL-r patients with poor outcome preferentially displayed chromosomal breakpoints within MLL intron 11. Based on the literature, most MLL-r IL display a breakpoint localization towards intron 11, which in turn may explain their worse clinical course. In summary, the MLL breakpoint localization is of clinical importance and should be considered as a novel outcome predictor for MLL-r patients.
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| 26030291 | Mutation | Chronic Myeloid Leukemia | We present unusual cytogenetic findings in a 65-year-old female with blast phase (BC) of Philadelphia chromosome positive chronic myeloid leukemia (CML). Fluorescence in situ hybridization (FISH) testing confirmed that the t(11;19) involved the MLL gene on 11q23.
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| 23259788 | Mutation | Gastric Carcinoma; Clear Renal Carcinoma | We found MLL, MLL2, MLL3 and MLL5 frameshift mutations in two (one GC and one CRC), three (one GC and two CRC), 17 (14 GC and three CRC) and six (four GC and two CRC) cancers, respectively.
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| 23225048 | Mutation | Acute Myeloid Leukemia | Karyotypes of 234 cases of de novo childhood AML were analyzed using short-term culture of bone marrow cells and R-banding. The fusion transcripts involving MLL gene and partial tandem duplication of MLL (MLL-PTD) were detected by multiple reverse transcription polymerase chain reaction (RT-PCR) assay.
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| 23210573 | Mutation | Acute Lymphoblastic Leukemia | Our RT-nPCR assay had a positive detection rate of 35.15% (90/256) for the 10 fusion genes. BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively.
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| 23132946 | Mutation | Acute Myeloid Leukemia | Through a large-scale, genome-wide miRNA expression profiling assay of 85 human AML and 15 normal control samples, we show that among 48 miRNAs that are significantly differentially expressed between MLL- and non-MLL-rearranged AML samples, only one (miR-495) is expressed at a lower level in MLL-rearranged AML than in non-MLL-rearranged AML; meanwhile, miR-495 is also significantly down-regulated in MLL-rearranged AML samples compared with normal control samples.
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| 23127113 | Mutation | Neuroendocrine Neoplasm | Applying microarray based sequence capture resequencing including 4,935 Exons from of 203 cancer-associated genes and high-resolution copy number and genotype analysis identified multiple somatic mutations in the primary NET, affecting BRCA2, CTNNB1, ERCC5, HNF1A, KIT, MLL, RB1, ROS1, SMAD4, and TP53.
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| 23114129 | Mutation | Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia | The results showed that the incidence of MLL rearrangements in adult patients with AL was low (8.2%), and MLL-AF4 fusion gene was most common and predominant in acute lymphoblastic leukemia (ALL), while the MLL-AF6 and MLL-AF9 were most frequent in acute myeloid leukemia (AML).
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| 23091311 | Mutation | Acute Leukemia | A total of 121 diagnostic acute leukemia specimens were studied, comparing the mRT-PCR system with standard cytogenetics. Fifty-six cases (46.3%) had fusion transcripts revealed by our mRT-PCR assay. The concordance rate between mRT-PCR and cytogenetics was 91.7%. However, false negative results were found in three cases who have inv(16), t(4;11) or t(11;19)(q23;p13.1), respectively. Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected.
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| 22993334 | Mutation | Acute Lymphoblastic Leukemia | Gene expression profiling (GEP) was performed for four adult patients with ALL. Their signatures were compared to those of ALL patients with a fusion gene involving c-abl oncogene 1, non-receptor tyrosine kinase (ABL1). The comparison of MLL-AFF1 cases with the ABL1 group identified 477 genes being differentially expressed at the statistically significant level of p<0.05, with 296 and 181 genes up- and down-regulated, respectively, in the MLL-AFF1 cases.
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| 22927255 | Mutation | T Acute Lymphoblastic Leukemia | In addition, they were investigated for common genetic lesions known in T-ALL. Twenty-two cases (9.5%) showed an abnormal MLL signal by FISH analysis. Most of these appeared to be deletions or gains but in five cases (2.1%) a chromosomal translocation involving the MLL gene was identified.
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| 22902925 | Mutation | Acute Myeloid Leukemia | Although MLL-AF9 caused by the chromosomal translocation t(9;11) has a critical role in acute myeloid leukemia, the molecular pathogenesis is poorly understood. Here, we identified that the cell fate determination factor DACH1 is directly up-regulated by MLL-AF9.
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| 22886961 | Mutation | Acute Myeloid Leukemia | The results showed that except unqualified samples, fusion genes were detected by multiplex RT-PCR in 211 of 474 patients (44.51%), including AML1-ETO, CBFβ-MYH11, PML-RARα, PLZF-RARα, NPM-RARα, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, TLS-ERG, AML1-MDS1 (EVI-1).
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| 22854283 | Mutation | Acute Myeloid Leukemia | This unusual break site results in the creation of two in-frame MLL-MLLT11 fusion transcripts in this acute myeloid leukemia patient with t(1;11)(q21;q23).
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| 22846743 | Mutation | Acute Lymphoblastic Leukemia; Leukemia | In the group of patients with acute lymphoblastic leukemia and an identified MLL fusion partner, 47% showed the presence of an MLL-AFF1 fusion, as a result of a t(4;11). In the remaining cases, a MLL-MLLT3 (27%), a MLL-MLLT1 (20%), or MLL-MLLT4 (7%) rearrangement was found.
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| 22845170 | Mutation | Acute Myeloid Leukemia | MLL rearrangements were analysed in the blood of a patient receiving chemotherapy for diffuse large B-cell lymphoma using inverse polymerase chain reaction targeting exon 12, parallel sequencing and a custom algorithm design.
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| 22781718 | Mutation | Acute Lymphoblastic Leukemia | Among these 55 ALL cases TEL/AML1, bcr-abl and MLL fusion genes were observed in 16 (29.1%), 3(5.5%) and 2(3.6%) cases, respectively.
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| 22682626 | Mutation | Acute Myeloid Leukemia | We characterized a new three-way translocation involving MLL in an infant with acute myeloid leukemia who subsequently relapsed and underwent a hematopoietic stem cell transplant from an unrelated stem cell donor. The two reciprocal MLL fusion sites were cloned by long-distance inverse polymerase chain reaction, which led to the identification of MLL-MLLT11 and the reciprocal MYO18A-MLL fusion alleles.
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| 22634756 | Mutation | Hepatocellular Carcinoma | Statistical and functional analyses yielded a list of recurrently mutated genes. Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors.
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| 22615413 | Mutation | Therapy related acute Leukemia | We find that 2-3% of MLL alleles undergoing transcription do so in close proximity to one of its recurrent translocation partner genes, AF9 or AF4, consistent with their sharing transcription factories.
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| 22484628 | Mutation | Gastric Carcinoma | Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers.
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| 22353710 | Mutation | Leukemia | Here we show that they are direct targets of miRNA-196b, a microRNA (miRNA) located adjacent to and co-expressed with HOXA9, in MLL-rearranged leukaemic cells.
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| 22238115 | Mutation | Acute Lymphoblastic Leukemia | We here report the frequency of TEL-AML1, E2A-PBX1, MLL-AF4, and BCR-ABL chimeric transcripts in 264 Iraqi children newly diagnosed with acute lymphoblastic leukemia (ALL), using FTA cards impregnated with bone marrow aspirate or whole blood.
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| 22213861 | Mutation | B Acute Lymphoblastic Leukemia | MLL rearrangement was found in 12 cases, mainly pro-B ALL.
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| 22213612 | Mutation | B Cell Lymphoblastic Lymphoma | Here we present a case of hypothalamic obesity syndrome as the primary presentation of a toddler found to have CNS+ B-cell lymphoblastic lymphoma. Cytogenetic studies on diagnostic cerebrospinal fluid revealed MLL gene rearrangement (11q23).
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| 22150308 | Mutation | Acute Myeloid Leukemia | Aberrant expression of these homeodomain transcription factors is found in AML with chromosomal translocations involving the MLL, MYST3 and CREBBP genes, and in a poor prognosis subset with normal cytogenetics.
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| 22052166 | Mutation; Copy Number Gain | B Cell Lymphoblastic Lymphoma | Here, we describe a pediatric B-LBL patient who presented with extensive abdominal involvement and whose lymphoma cells displayed segmental duplication of the mixed lineage leukemia (MLL) gene. MLL duplication/amplification has been described primarily in acute myeloid leukemia and myelodysplastic syndrome with no published reports of discrete MLL duplication/amplification events in B-LBL.
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| 21953510 | Mutation | Acute Lymphoblastic Leukemia | We analyzed 12 MLL/ENL positive ALL patients consecutively diagnosed between 1999 and 2009. The MLL/ENL fusion was identified in 4/150 (2.6%), 8/993 (0.8%), and 0/70 of pediatric, adult, and elderly patients, respectively.
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| 21937695 | Mutation | Acute Myeloid Leukemia | Both the co-occurrence of high BRE expression with MLL-AF9 and its prognostic impact were confirmed in an independent cohort of 436 AML patients.
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| 21900057 | Mutation | B cell Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia | Between 1995 and 2010, 27 patients with an acute leukemia were found to have a fusion gene involving MLL. All seven ALL patients with B cell acute lymphoblastic leukemia were characterized by the MLL/AFF1 fusion gene resulting from a translocation (5 patients) or an insertion (2 patients). In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15.
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| 21764696 | Mutation | Acute Myeloid Leukemia | With multiprobe FISH panel, 22 of the 40 AML cases were found to carry 7 types of cytogenetic abnormalities, namely AML1/ETO transfusion gene, PML-RARα transfusion gene, MLL breakapart, P53 deletion, Del(5q), -7/Del(7q) and trisomy 8.
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| 21741597 | Mutation | Larynx Carcinoma | We identified the MLL-fusion targets in an MLL-AF9 leukemia model, and conducted epigenetic profiling for H3K79me2, H3K4me3, H3K27me3, and H3K36me3 in hematopoietic progenitor and leukemia stem cells (LSCs). We found abnormal profiles only for H3K79me2 on MLL-AF9 fusion target loci in LSCs.
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| 21738341 | Mutation | Acute Lymphoblastic Leukemia | The most common cytogenetic aberrations in acute myeloid leukemia patients was PML/PARA, followed by AML1/MGT8 and MLL1, and in acute lymphoid leukemia patients was BCR/ABL, followed by TEL/AML1 and MLL1 gene rearrangement.
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| 21706045 | Mutation | Acute Lymphoblastic Leukemia | In this study, we show that miR-143 was identified as a regulator of MLL-AF4 expression in MLL-AF4 ALL samples.
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| 21665178 | Mutation | Acute Myeloid Leukemia | In acute myeloid leukemia (AML), the mixed lineage leukemia (MLL) gene may be rearranged to generate a partial tandem duplication (PTD), or fused to partner genes through a chromosomal translocation (tMLL). In this study, we first explored the differentially expressed genes between MLL-PTD and tMLL using gene expression profiling of our cohort (15 MLL-PTD and 10 tMLL) and one published data set.
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| 21549623 | Mutation | B cell acute lymphoblastic Lymphoma | We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion.
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| 21518926 | Mutation | Leukemia | By comparing patient-derived leukemic cell lines, we find that MLL fusion-bound genes are a small subset of that recognized by wild-type MLL. In an inducible MLL-ENL model, MLL fusion protein binding and changes in H3K79 methylation are limited to a specific portion of the genome, whereas wild-type MLL distributes to a much larger set of gene loci. Surprisingly, among 223 MLL-ENL-bound genes, only 12 demonstrate a significant increase in mRNA expression on induction of the fusion protein.
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| 21474990 | Mutation | Acute Lymphoblastic Leukemia | The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever.
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| 21436736 | Mutation | Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia | MLL-AF4 fusion/t(4;11) was detected in 3 out of 265 ALL and MLL-AF9 fusion/t(9;11) in 4 out of 103 of AML.
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| 21239865 | Mutation | Therapy related acute Leukemia | Here, we report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer.
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| 21156246 | Mutation | Acute Myeloid Leukemia | We describe a 14-year-old boy with OS of the left ileum who developed secondary AML 15 months after completion of treatment. Cytogenetic analysis of the leukemic cells demonstrated deletion 11q23, whereas fluorescence in situ hybridization revealed rearrangement of the MLL gene. Only the addition of the long-distance inverse polymerase chain reaction technique identified the SEPT2 as the MLL fusion partner resulting in t(2;11)(q37;q23) that was reported in a very few secondary AML cases
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| 21123134 | Mutation | Leukemia | Therefore we developed a flow cytometric immunobead assay for detection of fusion proteins in lysates of leukemia cell samples by use of a bead-bound catching antibody against one side of the fusion protein and fluorochrome-conjugated detection antibody. So far, we have been able to design such fusion protein immunobead assays for BCR-ABL, PML-RARA, TEL-AML1, E2A-PBX1, MLL-AF4, AML1-ETO and CBFB-MYH11.
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| 20869771 | Mutation | Leukemia | Overall, these results demonstrate that in t(4;11) leukemia, the MLL-AF4 fusion protein is critical for leukemia cell proliferation and survival while the AF4-MLL fusion product is dispensable.
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| 20686504 | Mutation | Acute Lymphoblastic Leukemia | We examined the influence of MLL/AF4 and AML1/MTG8 fusion genes on the expression of TERT coding for the telomerase protein subunit, and subsequently telomerase activity in t(4;11)-positive ALL and t(8;21)-positive cell lines, respectively.
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| 20682395 | Mutation | Acute Myeloid Leukemia | We report a case of acute myeloid leukemia (AML) with two unrelated clones, one of which was t(11;17)(q23;q25) carrying MLL-SEPT9 fusion transcripts.
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| 20638125 | Mutation | B Acute Lymphoblastic Leukemia | Four novel monoallelic missense and two novel monoallelic synonymous mutations (G198R, R225Q, D486G, R509K, S388S and Q540Q) were identified in 9 B-ALL, of whom 7 cases carried BCR-ABL gene, one carried MLL-AF4 fusion gene, and one lost two chromosomes.
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| 20633769 | Mutation | Acute Lymphoblastic Leukemia | This report expands the spectrum of ALL-related translocations and hypothesizes on the mechanism leading to the MLL-SEPT11 fusion.
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| 20603585 | Mutation | Therapy related acute Leukemia | We report a case of therapy-related ALL (t-ALL) with MLL gene rearrangement in a patient who had undergone treatment for breast cancer.
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| 20519822 | Mutation | Therapy-Related Myelodysplastic/Myeloproliferative Neoplasm | These findings indicated a diagnosis of therapy-related myelodysplastic/myeloproliferative neoplasms (t-MDS/MPN). Fluorescence in situ hybridization revealed that the breakpoint at 11q23 was centromeric to the MLL gene.
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| 20350423 | Mutation | Acute Myeloid Leukemia | Eighteen children were positive for TEL/AML1, 14 for E2A/PBX1, 11 for BCR/ABL,and 2 cases for MLL/AF4, and 35 cases were negative for all of the 4 fusion genes.
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| 20303016 | Mutation; Copy Number Gain | Acute Monoblastic Leukemia | We report a case of acute monoblastic leukemia showing a jumping translocation with the MLL gene in a 17-year-old male. Classic cytogenetic and spectral karyotyping revealed a complex karyotype, and fluorescence in situ hybridization (FISH) demonstrated amplification of the MLL gene followed by translocation to chromosomes 15q, 17q, and 19q.
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| 20299091 | Mutation | Mixed Phenotype Acute Leukemia | To the best of our knowledge, this is the first reported MLL-MLLT10 rearranged case presenting as MPAL in an infant.
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| 20139053 | Mutation | Acute Lymphoblastic Leukemia | Although mixed lineage leukemia gene (MLL) rearrangement is the dominant genetic aberration in infantile acute leukemia, the occurrence of MLL gene rearrangement in maternal ALL occurring during pregnancy has not been reported. Three of the 5 patients had MLL gene rearrangement.
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| 20107154 | Mutation | Acute Lymphoblastic Leukemia | The clinical outcome of 21 adults with ALL1(MLL)/AF4 positive acute lymphoblastic leukemia enrolled in the GIMEMA LAL 2000 trial and of 25 patients entered into the previous 0496 study is reported.
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| 20051780 | Mutation | Acute Lymphoblastic Leukemia | Three of the 4 infant ALL samples showed complete rearrangements of the VDJH gene with productive joints. Bisulfite sequencing of CD10 type 1 and 2 promoters showed that more than 84% of the cytosine-phosphate-guanine (CpG) dinucleotides identified were methylated in all 3 CD10-negative infant ALL samples with MLL/AF4.
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| 20032505 | Mutation | Acute Lymphoblastic Leukemia | Here we generated and analyzed primary infant ALL expression profiles (n = 73) typified by translocations t(4;11), t(11;19), and t(9;11), or the absence of MLL translocations.
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