U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

KMT2A Partial Tandem Duplication

MedGen UID:
821749
•Concept ID:
C3829001
•
Cell or Molecular Dysfunction
Synonyms: MLL-PTD; Partial Tandem Duplication of MLL

Definition

A chromosomal rearrangement where exons 5 through 11 or 5 through 12 of the MLL gene are duplicated and inserted upstream of exon 4 of the gene. This duplication results in transcripts and proteins that have the N-terminal region, which contains the AT hook DNA-binding motifs, and the transcriptional repression domain duplicated. This mutation is associated with myelodysplastic syndrome (MDS) and susceptibility of MDS progression to acute myeloid leukemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKMT2A Partial Tandem Duplication

Professional guidelines

PubMed

Risk assessment by monitoring expression levels of partial tandem duplications in the MLL gene in acute myeloid leukemia during therapy.
Weisser M, Kern W, Schoch C, Hiddemann W, Haferlach T, Schnittger S
Haematologica 2005 Jul;90(7):881-9. PMID: 15996925

Recent clinical studies

Etiology

Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
Tsai HK, Gogakos T, Lip V, Tsai JM, Li YD, Fisch AS, Weiss J, Yang W, Grimmett L, DiToro D, Schaefer EJ, Lindsley RC, Tran TH, Caron M, Langlois S, Sinnett D, Pikman Y, Nardi V, Kim AS, Silverman LB, Harris MH
J Mol Diagn 2023 Sep;25(9):665-681. Epub 2023 Jul 5 doi: 10.1016/j.jmoldx.2023.06.007. PMID: 37419244Free PMC Article
Allelic complexity of KMT2A partial tandem duplications in acute myeloid leukemia and myelodysplastic syndromes.
Tsai HK, Gibson CJ, Murdock HM, Davineni P, Harris MH, Wang ES, Gondek LP, Kim AS, Nardi V, Lindsley RC
Blood Adv 2022 Jul 26;6(14):4236-4240. doi: 10.1182/bloodadvances.2022007613. PMID: 35584376Free PMC Article
Cytogenomic array detects a subset of myelodysplastic syndrome with increased risk that is invisible to conventional karyotype.
Choi SM, Van Norman SB, Bixby DL, Shao L
Genes Chromosomes Cancer 2019 Nov;58(11):756-774. Epub 2019 Aug 6 doi: 10.1002/gcc.22783. PMID: 31334569

Diagnosis

Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
Tsai HK, Gogakos T, Lip V, Tsai JM, Li YD, Fisch AS, Weiss J, Yang W, Grimmett L, DiToro D, Schaefer EJ, Lindsley RC, Tran TH, Caron M, Langlois S, Sinnett D, Pikman Y, Nardi V, Kim AS, Silverman LB, Harris MH
J Mol Diagn 2023 Sep;25(9):665-681. Epub 2023 Jul 5 doi: 10.1016/j.jmoldx.2023.06.007. PMID: 37419244Free PMC Article
The Application of Targeted RNA Sequencing for KMT2A-Partial Tandem Duplication Identification and Integrated Analysis of Molecular Characterization in Acute Myeloid Leukemia.
Dai B, Yu H, Ma T, Lei Y, Wang J, Zhang Y, Lu J, Yan H, Jiang L, Chen B
J Mol Diagn 2021 Nov;23(11):1478-1490. Epub 2021 Aug 10 doi: 10.1016/j.jmoldx.2021.07.019. PMID: 34384895
Cytogenomic array detects a subset of myelodysplastic syndrome with increased risk that is invisible to conventional karyotype.
Choi SM, Van Norman SB, Bixby DL, Shao L
Genes Chromosomes Cancer 2019 Nov;58(11):756-774. Epub 2019 Aug 6 doi: 10.1002/gcc.22783. PMID: 31334569
A novel regimen for relapsed/refractory adult acute myeloid leukemia using a KMT2A partial tandem duplication targeted therapy: results of phase 1 study NCI 8485.
Mims AS, Mishra A, Orwick S, Blachly J, Klisovic RB, Garzon R, Walker AR, Devine SM, Walsh KJ, Vasu S, Whitman S, Marcucci G, Jones D, Heerema NA, Lozanski G, Caligiuri MA, Bloomfield CD, Byrd JC, Piekarz R, Grever MR, Blum W
Haematologica 2018 Jun;103(6):982-987. Epub 2018 Mar 22 doi: 10.3324/haematol.2017.186890. PMID: 29567781Free PMC Article

Therapy

A novel regimen for relapsed/refractory adult acute myeloid leukemia using a KMT2A partial tandem duplication targeted therapy: results of phase 1 study NCI 8485.
Mims AS, Mishra A, Orwick S, Blachly J, Klisovic RB, Garzon R, Walker AR, Devine SM, Walsh KJ, Vasu S, Whitman S, Marcucci G, Jones D, Heerema NA, Lozanski G, Caligiuri MA, Bloomfield CD, Byrd JC, Piekarz R, Grever MR, Blum W
Haematologica 2018 Jun;103(6):982-987. Epub 2018 Mar 22 doi: 10.3324/haematol.2017.186890. PMID: 29567781Free PMC Article

Prognosis

Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
Tsai HK, Gogakos T, Lip V, Tsai JM, Li YD, Fisch AS, Weiss J, Yang W, Grimmett L, DiToro D, Schaefer EJ, Lindsley RC, Tran TH, Caron M, Langlois S, Sinnett D, Pikman Y, Nardi V, Kim AS, Silverman LB, Harris MH
J Mol Diagn 2023 Sep;25(9):665-681. Epub 2023 Jul 5 doi: 10.1016/j.jmoldx.2023.06.007. PMID: 37419244Free PMC Article
Allelic complexity of KMT2A partial tandem duplications in acute myeloid leukemia and myelodysplastic syndromes.
Tsai HK, Gibson CJ, Murdock HM, Davineni P, Harris MH, Wang ES, Gondek LP, Kim AS, Nardi V, Lindsley RC
Blood Adv 2022 Jul 26;6(14):4236-4240. doi: 10.1182/bloodadvances.2022007613. PMID: 35584376Free PMC Article
The Application of Targeted RNA Sequencing for KMT2A-Partial Tandem Duplication Identification and Integrated Analysis of Molecular Characterization in Acute Myeloid Leukemia.
Dai B, Yu H, Ma T, Lei Y, Wang J, Zhang Y, Lu J, Yan H, Jiang L, Chen B
J Mol Diagn 2021 Nov;23(11):1478-1490. Epub 2021 Aug 10 doi: 10.1016/j.jmoldx.2021.07.019. PMID: 34384895
Cytogenomic array detects a subset of myelodysplastic syndrome with increased risk that is invisible to conventional karyotype.
Choi SM, Van Norman SB, Bixby DL, Shao L
Genes Chromosomes Cancer 2019 Nov;58(11):756-774. Epub 2019 Aug 6 doi: 10.1002/gcc.22783. PMID: 31334569
A novel regimen for relapsed/refractory adult acute myeloid leukemia using a KMT2A partial tandem duplication targeted therapy: results of phase 1 study NCI 8485.
Mims AS, Mishra A, Orwick S, Blachly J, Klisovic RB, Garzon R, Walker AR, Devine SM, Walsh KJ, Vasu S, Whitman S, Marcucci G, Jones D, Heerema NA, Lozanski G, Caligiuri MA, Bloomfield CD, Byrd JC, Piekarz R, Grever MR, Blum W
Haematologica 2018 Jun;103(6):982-987. Epub 2018 Mar 22 doi: 10.3324/haematol.2017.186890. PMID: 29567781Free PMC Article

Clinical prediction guides

Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
Tsai HK, Gogakos T, Lip V, Tsai JM, Li YD, Fisch AS, Weiss J, Yang W, Grimmett L, DiToro D, Schaefer EJ, Lindsley RC, Tran TH, Caron M, Langlois S, Sinnett D, Pikman Y, Nardi V, Kim AS, Silverman LB, Harris MH
J Mol Diagn 2023 Sep;25(9):665-681. Epub 2023 Jul 5 doi: 10.1016/j.jmoldx.2023.06.007. PMID: 37419244Free PMC Article
The Application of Targeted RNA Sequencing for KMT2A-Partial Tandem Duplication Identification and Integrated Analysis of Molecular Characterization in Acute Myeloid Leukemia.
Dai B, Yu H, Ma T, Lei Y, Wang J, Zhang Y, Lu J, Yan H, Jiang L, Chen B
J Mol Diagn 2021 Nov;23(11):1478-1490. Epub 2021 Aug 10 doi: 10.1016/j.jmoldx.2021.07.019. PMID: 34384895
Cytogenomic array detects a subset of myelodysplastic syndrome with increased risk that is invisible to conventional karyotype.
Choi SM, Van Norman SB, Bixby DL, Shao L
Genes Chromosomes Cancer 2019 Nov;58(11):756-774. Epub 2019 Aug 6 doi: 10.1002/gcc.22783. PMID: 31334569

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...