Complex Three-Way Translocation Involving &lt;b&gt;&lt;i&gt;MLL&lt;/i&gt;&lt;/b&gt;, &lt;b&gt;&lt;i&gt;ELL&lt;/i&gt;&lt;/b&gt;, &lt;b&gt;&lt;i&gt;RREB1&lt;/i&gt;&lt;/b&gt;, and &lt;b&gt;&lt;i&gt;CMAHP &lt;/i&gt;&lt;/b&gt;Genes in an Infant with Acute Myeloid Leukemia and t(6;19;11)(p22.2;p13.1;q23.3)

Tuborgh, Astrid; Meyer, Claus; Marschalek, Rolf; Preiss, Birgitte; Hasle, Henrik; Kjeldsen, Eigil

doi:10.1159/000351224

Cited by 9 publications

(10 citation statements)

References 30 publications

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“…17 Moreover, MKL2 upregulation was recently shown to promote dendritic complexity and increase total dendritic length, whereas MKL2 knockdown reduced the number of dendritic processes and dendritic length. 20,21 Genetic alterations of the RREB1 and MKL2 gene, including translocations (C11orf95-MKL2 in chondroid lipoma 22 ; RREB1 rearrangement in acute myeloid leukemia 23 ) and amplifications (RREB1 in melanoma 24 ) have been observed in different tumor types, suggesting the potential role of RREB1 and MKL2 activation in oncogenesis. The predicted chimeric transcript encompasses several putative functional motifs encoded by each gene.…”

Section: Follow-upmentioning

confidence: 99%

RREB1–MKL2 fusion in biphenotypic “oropharyngeal” sarcoma: New entity or part of the spectrum of biphenotypic sinonasal sarcomas?

Siegfried

Romary

Escudié

et al. 2018

Genes Chromosomes & Cancer

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An increasing number of sarcomas displaying a primitive, monomorphic spindle cell phenotype have been shown to harbor recurrent gene fusions, including biphenotypic sinonasal sarcoma (SNS). Occurring in the sinonasal area of middle-aged patients, SNS is a locally aggressive tumor harboring in 90% of cases recurrent gene fusions involving the PAX3 gene, in which the chimeric transcription factor induces an aberrant dual myogenic and neural phenotype. Here, we report an unusual oropharyngeal monomorphic spindle cell sarcoma in a 53-year-old man that revealed a novel RREB1-MKL2 gene fusion by RNA sequencing with the Illumina TruSight RNA Fusion Panel. The gene fusion was validated by RT-PCR. Although the tumor location is unusual (but head and neck seated), most of the other clinical, morphologic, immunophenotypic (focal combined expression of S100 protein, SMA, desmin, and myogenin) and oncogenic data suggest that this biphenotypic "oropharyngeal" sarcoma is closely related to the biphenotypic SNS spectrum. Notably, the RREB1-MKL2 chimeric transcription factor encoded by this fusion gene produced an increase in MKL2 expression, which regulates both neural and myogenic differentiation, mimicking the crucial role of PAX3 reported in SNS oncogenesis. NGS and especially RNA sequencing may be used to identify new candidate fusion oncogenes in soft tissue tumors, which would help in updating the existing classification. In turn, this would lead to better therapeutic management of patients.

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Section: Follow-upmentioning

confidence: 99%

RREB1–MKL2 fusion in biphenotypic “oropharyngeal” sarcoma: New entity or part of the spectrum of biphenotypic sinonasal sarcomas?

Siegfried

Romary

Escudié

et al. 2018

Genes Chromosomes & Cancer

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“…demonstrated MRTFB overexpression in their oropharyngeal spindle cell tumour, and suspected that a crucial role of MRTFB in neural 16 and muscular 17,18 development may partly explain the coexpression of neural and muscular markers in their tumour. RREB1 translocation has been reported in acute myeloid leukaemia 19 and C11orf95–MRTFB is a signature fusion of chondroid lipoma 20,21 . RREB1 amplification has also been reported in melanoma 22 …”

Section: Discussionmentioning

confidence: 99%

Mesenchymal tumours with RREB1–MRTFB fusion involving the mediastinum: extra‐glossal ectomesenchymal chondromyxoid tumours?

et al. 2020

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Aims: Ectomesenchymal chondromyxoid tumour (ECT) is a rare benign intraoral tumour which almost exclusively presents as a small mass of the anterior dorsal tongue. Recently, the RREB1-MRTFB (previously known as MKL2) fusion gene has been identified in 90% of ECTs, all located in the tongue, emphasising its genetic distinctiveness. Here, we report two mesenchymal tumours involving the superior mediastinum of adult women with RREB1-MRTFB fusions. Methods and results: Both tumours presented as wellcircumscribed paravertebral masses that were clinically suspected to be schwannoma. After fragmented resection, recurrence was not observed at 27 and 18 months. Although tumours were originally unclassifiable, nextgeneration sequencing detected identical RREB1 (exon 8)-MRTFB (exon 11) fusion transcripts, which were validated by reverse transcriptase-polymerase chain reaction, Sanger sequencing, and fluorescence in-situ hybridisation. Both tumours shared hyalinised areas with round cells embedded in a cord or reticular manner. The tumour cells showed mild nuclear atypia of possible degenerative type with very low mitotic activity, and were at least focally positive for S100, glial fibrillary acidic protein, smooth muscle actin and epithelial membrane antigen. Overall, these findings suggest that they may represent previously undescribed extra-glossal ECT involving the mediastinum. However, the histology was not classic for ECT, because that in case 2 was predominated by storiform growth of spindle cells, whereas the tumour in case 1 lacked myxoid change. Conclusions: We have provided the first evidence that RREB1-MRTFB fusion is not limited to tumours in the head region, and whether such tumours represent extra-glossal ECTs requires further research.

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“…We identified 15 lncRNAs with clinical significance. Among them, only CMAHP was reported to be related to MLLpositive AML [36], and other lncRNAs have not been reported in leukemia. Two miRNAs, including hsa-miR-125b-5p and hsa-miR-338-3p, have been reported to be associated with a variety of cancers [37][38][39][40], but no studies have been reported related to AML.…”

Section: Discussionmentioning

confidence: 99%

A Novel Immune-related Competing Endogenous RNA Network Predicts Prognosis of Acute Myeloid Leukemia

Wang

Liu

et al. 2020

Preprint

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Background Acute myeloid leukemia is a genetically, biologically and clinically heterogeneous hematopoietic malignancy that is highly dependent on the bone marrow microenvironment. Infiltrated immune cells and stromal cells are an important part of the bone marrow microenvironment and significantly affect the progression of acute myeloid leukemia. Recently, the competing endogenous RNA hypothesis has gained great interests in the study of molecular and biological mechanisms of tumor occurrence and progression. However, research on how competing endogenous RNA relates to leukemia tumor microenvironment remains uninvestigated.Methods In this study, mRNA, miRNA and lncRNA data and clinical information of the acute myeloid leukemia cohort were obtained from The Cancer Genome Atlas database, and the immune and stromal scores were calculated using the ESTIMATE algorithm.Results We found that immune scores were significantly correlated with cytogenetic risk and overall survival, and also identified microenvironment-related mRNAs, miRNAs, and lncRNAs based on the immune and stromal scores. Differentially expressed mRNAs and lncRNAs were applied to weighted correlation network analysis to identify the modules most relevant to the immune microenvironment of acute myeloid leukemia. Using miRNA database to predict miRNA-targeted genes, we established the immune-related competing endogenous RNA network consisting of 33 lncRNAs, 21 miRNAs and 135 mRNAs. Prognostic analysis was performed on the genes in the immune-related competing endogenous RNA network to screen out 15 lncRNAs, 2 miRNAs and 31 mRNAs with prognostic values.Conclusions In summary, we identified a novel immune-related mRNA-miRNA-lncRNA competing endogenous RNA network associated with the prognosis of acute myeloid leukemia, which may contribute to better understanding of the development and progression of acute myeloid leukemia and to serve as novel therapeutic targets.

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Complex Three-Way Translocation Involving <b><i>MLL</i></b>, <b><i>ELL</i></b>, <b><i>RREB1</i></b>, and <b><i>CMAHP </i></b>Genes in an Infant with Acute Myeloid Leukemia and t(6;19;11)(p22.2;p13.1;q23.3)

Cited by 9 publications

References 30 publications

RREB1–MKL2 fusion in biphenotypic “oropharyngeal” sarcoma: New entity or part of the spectrum of biphenotypic sinonasal sarcomas?

RREB1–MKL2 fusion in biphenotypic “oropharyngeal” sarcoma: New entity or part of the spectrum of biphenotypic sinonasal sarcomas?

Mesenchymal tumours with RREB1–MRTFB fusion involving the mediastinum: extra‐glossal ectomesenchymal chondromyxoid tumours?

A Novel Immune-related Competing Endogenous RNA Network Predicts Prognosis of Acute Myeloid Leukemia

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