Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia

Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes ( BCL9 , CSF1R , DAZAP1 , HNRNPUL1 and SS18 ) in 22 B progenitor ALL (B-ALL) cases...

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Vydané v:Nature communications Ročník 7; číslo 1; s. 13331 - 10
Hlavní autori: Gu, Zhaohui, Churchman, Michelle, Roberts, Kathryn, Li, Yongjin, Liu, Yu, Harvey, Richard C., McCastlain, Kelly, Reshmi, Shalini C., Payne-Turner, Debbie, Iacobucci, Ilaria, Shao, Ying, Chen, I-Ming, Valentine, Marcus, Pei, Deqing, Mungall, Karen L., Mungall, Andrew J., Ma, Yussanne, Moore, Richard, Marra, Marco, Stonerock, Eileen, Gastier-Foster, Julie M., Devidas, Meenakshi, Dai, Yunfeng, Wood, Brent, Borowitz, Michael, Larsen, Eric E., Maloney, Kelly, Mattano Jr, Leonard A., Angiolillo, Anne, Salzer, Wanda L., Burke, Michael J., Gianni, Francesca, Spinelli, Orietta, Radich, Jerald P., Minden, Mark D., Moorman, Anthony V., Patel, Bella, Fielding, Adele K., Rowe, Jacob M., Luger, Selina M., Bhatia, Ravi, Aldoss, Ibrahim, Forman, Stephen J., Kohlschmidt, Jessica, Mrózek, Krzysztof, Marcucci, Guido, Bloomfield, Clara D., Stock, Wendy, Kornblau, Steven, Kantarjian, Hagop M., Konopleva, Marina, Paietta, Elisabeth, Willman, Cheryl L., L. Loh, Mignon, P. Hunger, Stephen, Mullighan, Charles G.
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: London Nature Publishing Group UK 08.11.2016
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ISSN:2041-1723, 2041-1723
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Abstract Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes ( BCL9 , CSF1R , DAZAP1 , HNRNPUL1 and SS18 ) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9 . Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2 ; thus, MEF2D- rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D- rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D- rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered. Acute lymphoblastic leukaemia is characterized by chromosomal rearrangements. Here, the authors carry out RNA-sequencing on a large cohort of patients and identify recurrent rearrangements of MEF2D , which lead to increased transcriptional activity of the gene, and cellular transformation in vitro .
AbstractList Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes ( BCL9 , CSF1R , DAZAP1 , HNRNPUL1 and SS18 ) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9 . Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2 ; thus, MEF2D- rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D- rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D- rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered. Acute lymphoblastic leukaemia is characterized by chromosomal rearrangements. Here, the authors carry out RNA-sequencing on a large cohort of patients and identify recurrent rearrangements of MEF2D , which lead to increased transcriptional activity of the gene, and cellular transformation in vitro .
Acute lymphoblastic leukaemia is characterized by chromosomal rearrangements. Here, the authors carry out RNA-sequencing on a large cohort of patients and identify recurrent rearrangements of MEF2D, which lead to increased transcriptional activity of the gene, and cellular transformation in vitro.
Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes ( BCL9 , CSF1R , DAZAP1 , HNRNPUL1 and SS18 ) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9 . Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2 ; thus, MEF2D- rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D- rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D- rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered.
Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes (BCL9, CSF1R, DAZAP1, HNRNPUL1 and SS18) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9. Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2; thus, MEF2D-rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D-rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D-rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered.Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes (BCL9, CSF1R, DAZAP1, HNRNPUL1 and SS18) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9. Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2; thus, MEF2D-rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D-rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D-rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered.
Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes (BCL9, CSF1R, DAZAP1, HNRNPUL1 and SS18) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9. Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2; thus, MEF2D-rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D-rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D-rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered.
Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes (BCL9, CSF1R, DAZAP1, HNRNPUL1 and SS18) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9. Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2; thus, MEF2D-rearranged cases comprise 5.3% of cases lacking recurring alterations. MEF2D-rearranged ALL is characterized by a distinct immunophenotype, DNA copy number alterations at the rearrangement sites, older diagnosis age and poor outcome. The rearrangements result in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitive to histone deacetylase inhibitor treatment. Thus, MEF2D-rearranged ALL represents a distinct form of high-risk leukaemia, for which new therapeutic approaches should be considered. Acute lymphoblastic leukaemia is characterized by chromosomal rearrangements. Here, the authors carry out RNA-sequencing on a large cohort of patients and identify recurrent rearrangements of MEF2D, which lead to increased transcriptional activity of the gene, and cellular transformation in vitro.
ArticleNumber 13331
Author Harvey, Richard C.
Stonerock, Eileen
Moorman, Anthony V.
Marra, Marco
Luger, Selina M.
McCastlain, Kelly
Gianni, Francesca
Maloney, Kelly
Pei, Deqing
Radich, Jerald P.
P. Hunger, Stephen
Churchman, Michelle
Gastier-Foster, Julie M.
Willman, Cheryl L.
Bloomfield, Clara D.
Mullighan, Charles G.
Liu, Yu
Payne-Turner, Debbie
Chen, I-Ming
Konopleva, Marina
Kantarjian, Hagop M.
Wood, Brent
Kohlschmidt, Jessica
Mungall, Andrew J.
Angiolillo, Anne
Devidas, Meenakshi
Rowe, Jacob M.
Shao, Ying
Dai, Yunfeng
Bhatia, Ravi
Spinelli, Orietta
Salzer, Wanda L.
Aldoss, Ibrahim
Mattano Jr, Leonard A.
Moore, Richard
Borowitz, Michael
Minden, Mark D.
Iacobucci, Ilaria
Paietta, Elisabeth
Roberts, Kathryn
Larsen, Eric E.
Gu, Zhaohui
Marcucci, Guido
Stock, Wendy
L. Loh, Mignon
Ma, Yussanne
Fielding, Adele K.
Li, Yongjin
Reshmi, Shalini C.
Burke, Michael J.
Patel, Bella
Mungall, Karen L.
Valentine, Marcus
Forman, Stephen J.
Kornblau, Steven
Mrózek, Krzysztof
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/27824051$$D View this record in MEDLINE/PubMed
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Snippet Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements...
Acute lymphoblastic leukaemia is characterized by chromosomal rearrangements. Here, the authors carry out RNA-sequencing on a large cohort of patients and...
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proquest
pubmed
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springer
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StartPage 13331
SubjectTerms 13/1
13/106
13/31
13/44
14/32
38/39
38/91
631/67/69
64/60
692/308/2056
692/699/67/1990/283/2125
82/1
Animals
Base Sequence
Cancer research
Gene Expression Regulation, Leukemic
Gene Rearrangement - genetics
Genomics - methods
Hematology
Histone Deacetylase Inhibitors - pharmacology
Hospitals
Humanities and Social Sciences
Humans
Kinases
Leukemia
Luciferases - metabolism
Medical research
Medicine
MEF2 Transcription Factors - genetics
Mice
multidisciplinary
NIH 3T3 Cells
Oncogene Proteins, Fusion - genetics
Oncology
Pathology
Pediatrics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology
Science
Science (multidisciplinary)
Sequence Analysis, RNA
Transcriptome
Treatment Outcome
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Title Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia
URI https://link.springer.com/article/10.1038/ncomms13331
https://www.ncbi.nlm.nih.gov/pubmed/27824051
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https://pubmed.ncbi.nlm.nih.gov/PMC5105166
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