Histone H3 K36M

H3K36M is a mutant form of histone H3, in which lysine at position 36 is replaced by methionine. Under normal conditions, H3K36 can be methylated by histone methyltransferase (HMT), which participates in various activities such as gene transcription, DNA repairing, and cell cycle regulation. However, H3K36 mutation will lead to a sharp decrease in methylation level, causing epigenetic dysregulation. And its encoded peptide can inhibit HMT activity and promote malignant cell transformation by inducing tumor related gene expression. Some research suggested that more than 95% of chondroblastoma (CB) patients have H3K36M expression, which makes it become a highly specific diagnostic indicator for CB, but its prognostic value is still unclear. In addition, H3K36M can be expressed in a small number of pediatric undifferentiated soft tissue sarcomas, speculated that it may drive tumor occurrence by hindering the differentiation of stromal precursor cells, which suggests that H3K36M may exist in poorly differentiated soft tissue tumors.