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MLL Gene Translocation

MedGen UID:
1711057
•Concept ID:
C5238305
•
Cell or Molecular Dysfunction
Synonyms: KMT2A Gene Translocation; KMT2A Translocation; Lysine (K)-Specific Methyltransferase 2A Gene Translocation; Lysine Methyltransferase 2A Gene Translocation; Mixed Lineage Leukemia Gene Translocation; MLL Translocation; Myeloid/Lymphoid Leukemia Gene Translocation; Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Translocation; Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Translocation

Definition

A cytogenetic abnormality that refers to any translocation involving the MLL (KMT2A) gene. [from NCI]

Professional guidelines

PubMed

MLL-Rearranged Acute Leukemia with t(4;11)(q21;q23)-Current Treatment Options. Is There a Role for CAR-T Cell Therapy?
Britten O, Ragusa D, Tosi S, Kamel YM
Cells 2019 Oct 29;8(11) doi: 10.3390/cells8111341. PMID: 31671855Free PMC Article
Acute Myeloid Leukemia: Diagnosis and Management Based on Current Molecular Genetics Approach.
Suguna E, Farhana R, Kanimozhi E, Kumar PS, Kumaramanickavel G, Kumar CS
Cardiovasc Hematol Disord Drug Targets 2018;18(3):199-207. doi: 10.2174/1871529X18666180515130136. PMID: 29766829
Therapy related leukemias: susceptibility, prevention and treatment.
Leone G, Voso MT, Sica S, Morosetti R, Pagano L
Leuk Lymphoma 2001 Apr;41(3-4):255-76. doi: 10.3109/10428190109057981. PMID: 11378539

Recent clinical studies

Etiology

The epidemiology of childhood leukemia with a focus on birth weight and diet.
Tower RL, Spector LG
Crit Rev Clin Lab Sci 2007;44(3):203-42. doi: 10.1080/10408360601147536. PMID: 17453918

Diagnosis

CALLA negative precursor B lymphoblastic leukemia with MLL gene translocation and an unusual FISH signal pattern.
Devi SG, Goyal M, Ramakrishna NV, Murthy SS
Indian J Pathol Microbiol 2011 Jan-Mar;54(1):176-9. doi: 10.4103/0377-4929.77396. PMID: 21393911
Chromosomal aberration of the 11q23 locus in acute leukemia and frequency of MLL gene translocation: results in 378 adult patients.
Cox MC, Panetta P, Lo-Coco F, Del Poeta G, Venditti A, Maurillo L, Del Principe MI, Mauriello A, Anemona L, Bruno A, Mazzone C, Palombo P, Amadori S
Am J Clin Pathol 2004 Aug;122(2):298-306. doi: 10.1309/RX27-R8GJ-QM33-0C22. PMID: 15323147
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proc Natl Acad Sci U S A 2000 Mar 14;97(6):2814-9. doi: 10.1073/pnas.050397097. PMID: 10706619Free PMC Article
Potential role for wild-type p53 in leukemias with MLL gene translocations.
Megonigal MD, Rappaport EF, Nowell PC, Lange BJ, Felix CA
Oncogene 1998 Mar 12;16(10):1351-6. doi: 10.1038/sj.onc.1201637. PMID: 9546437

Therapy

Selective killing of mixed lineage leukemia cells by a potent small-molecule DOT1L inhibitor.
Daigle SR, Olhava EJ, Therkelsen CA, Majer CR, Sneeringer CJ, Song J, Johnston LD, Scott MP, Smith JJ, Xiao Y, Jin L, Kuntz KW, Chesworth R, Moyer MP, Bernt KM, Tseng JC, Kung AL, Armstrong SA, Copeland RA, Richon VM, Pollock RM
Cancer Cell 2011 Jul 12;20(1):53-65. doi: 10.1016/j.ccr.2011.06.009. PMID: 21741596Free PMC Article
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proc Natl Acad Sci U S A 2000 Mar 14;97(6):2814-9. doi: 10.1073/pnas.050397097. PMID: 10706619Free PMC Article

Prognosis

The epidemiology of childhood leukemia with a focus on birth weight and diet.
Tower RL, Spector LG
Crit Rev Clin Lab Sci 2007;44(3):203-42. doi: 10.1080/10408360601147536. PMID: 17453918
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proc Natl Acad Sci U S A 2000 Mar 14;97(6):2814-9. doi: 10.1073/pnas.050397097. PMID: 10706619Free PMC Article

Clinical prediction guides

Chromosomal aberration of the 11q23 locus in acute leukemia and frequency of MLL gene translocation: results in 378 adult patients.
Cox MC, Panetta P, Lo-Coco F, Del Poeta G, Venditti A, Maurillo L, Del Principe MI, Mauriello A, Anemona L, Bruno A, Mazzone C, Palombo P, Amadori S
Am J Clin Pathol 2004 Aug;122(2):298-306. doi: 10.1309/RX27-R8GJ-QM33-0C22. PMID: 15323147
Nucleolytic cleavage of the mixed lineage leukemia breakpoint cluster region during apoptosis.
Sim SP, Liu LF
J Biol Chem 2001 Aug 24;276(34):31590-5. Epub 2001 Jun 13 doi: 10.1074/jbc.M103962200. PMID: 11406628
Impact of CD133 (AC133) and CD90 expression analysis for acute leukemia immunophenotyping.
Wuchter C, Ratei R, Spahn G, Schoch C, Harbott J, Schnittger S, Haferlach T, Creutzig U, Sperling C, Karawajew L, Ludwig WD
Haematologica 2001 Feb;86(2):154-61. PMID: 11224484

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