Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal myeloid disorders combining dysplastic and proliferative features of both myelodysplastic syndromes MDS and myeloproliferative neoplasms (MPN), but does not belong to these two categories. MDS/MPN carries more gene mutations associated with activation of growth factor signaling pathways, epigenetic regulatory and morphological abnormalities compared to MDS and MPN. MDS/MPN is currently divided into five types, chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia BCR-ABL1 negative (aCML), juvenile myelomonocytic leukemia (JMML), MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U).
Mutation screening for MDS/MPN individuals reveals frequent mutations of RUNX1 and CEBPA. RUNX1 (also known as AML1 or CBFA2) is located on chromosome band 21q22.12 and encodes an alpha subunit of the core binding factor (CBF) complex. This complex activates and inhibits transcription of key regulatory factors in the growth, survival and differentiation pathways. RUNX1 has also been identified as one of the most common targets in leukemia and somatic mutant chromosomal translocations. CCAAT enhancer binding protein A (CEBPA) gene and its coding transcription factor CCAAT enhancer binding protein alpha (C/EBPα) play an important role in early differentiation of hematopoietic system by promoting granulation differentiation of hematopoietic stem/progenitor cells and inhibiting cell proliferation. Mutations in the CEBPA gene and the abnormal regulation of transcription, translation and posttranslational levels can cause the abnormal structure or expression of C/EBP α protein, leading to the dysplasia of granule-line differentiation and abnormal proliferation of immature granule-line precursor cells. Mutations in transcription and other nuclear factors are common in myelodysplastic/myeloproliferative tumors and are often mutually exclusive. The mutations of SF3B1, a gene encoding the core component of RNA splicing mechanism, are closely related to the disease phenotype of annular astrocytes in MDS/MPN. TET2 is widely expressed in hematopoietic cells, but its function is unknown. JAK2-V617F mutations have been detected in up to 60% of MDS/MPN-U populations.
To support researches related to MDS/MPN overlap associated genes, our custom MDS/MPN overlap panel platform offers a comprehensive MDS/MPN overlap panel library from which you can choose for genetic testing of MDS/MPN overlap disease. High-throughput amplicon sequencing technology that we perform can screen genetic variants among the MDS/MPN overlap gene panel via a high effective mode and help researchers decode the MDS/MPN biology and identify MDS/MPN subtype.
Please contact us if you need more details about the Custom MDS/MPN Overlap Panel or other requirements.