KMT2D (also known as MLL2) encodes a histone H3K4 methyltransferase, playing a crucial role in germinal center B cell development and function. Mutations in KMT2D are among the most common mutations in FL and are also common in DLBCL.¹ KMT2D mutations are recurrent but less common in BL and MCL and many other B-cell neoplasms. Mutations typically cause loss of KMT2D function, leading to diminished H3K4 methylation, impacting gene expression that favours lymphomagenesis. KMT2D mutations are associated with poor prognosis in DLBCL.^2,3

First identified as mutated in DLBCL and FL in 2011 by Morin et al.¹ Mutations were later described in MCL in 2013 by Bea et al.⁴ KMT2D mutations were later reported in BL by Grande et al.⁵

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timeline
    title Publication timing
      2011-07-27 : Morin : FL
      2012-08-27 : Rossi : MZL
      2013-11-05 : Bea : MCL
      2019-03-21 : Grande : BL
      2019-08-20 : Desch : PMBL

Entity	Tier	Description
	1	high-confidence MZL gene[@rossiCodingGenomeSplenic2012c]
	2	relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020]
	1	high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]
	1	high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011]
	1	high-confidence BL gene [@grandeGenomewideDiscoverySomatic2019]
	1	high-confidence MCL gene [@beaLandscapeSomaticMutations2013]

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38