Genetics and Epigenetics in Neoplasms with Plasmacytoid Dendritic Cells.
Fiche publication
Date publication
août 2022
Journal
Cancers
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLANAN Mary
Tous les auteurs :
Renosi F, Callanan M, Lefebvre C
Lien Pubmed
Résumé
Plasmacytoid Dendritic Cells (pDC) are type I interferon (IFN)-producing cells that play a key role in immune responses. Two major types of neoplastic counterparts for pDC are now discriminated: Blastic pDC Neoplasm (BPDCN) and Mature pDC Proliferation (MPDCP), associated with myeloid neoplasm. Two types of MPDCP are now better described: Chronic MyeloMonocytic Leukemia with pDC expansion (pDC-CMML) and Acute Myeloid Leukemia with pDC expansion (pDC-AML). Differential diagnosis between pDC-AML and BPDCN is particularly challenging, and genomic features can help for diagnosis. Here, we systematically review the cytogenetic, molecular, and transcriptional characteristics of BPDCN and pDC-AML. BPDCN are characterized by frequent complex karyotypes with recurrent rearrangements as well as recurrent deletions involving , , , and loci. Epigenetic and splicing pathways are also particularly mutated, while original processes are dysregulated, such as NF-kB, TCF4, BCL2, and IFN pathways; neutrophil-specific receptors; and cholinergic signaling. In contrast, cytogenetic abnormalities are limited in pDC-AML and are quite similar to other AML. Interestingly, is the most frequently mutated gene (70% of cases). These typical genomic features are of potential interest for diagnosis, and also from a prognostic or therapeutic perspective.
Mots clés
RUNX1 mutation, acute myeloid leukemia, blastic plasmacytoid dendritic cells neoplasm, mature plasmacytoid dendritic cells proliferation
Référence
Cancers (Basel). 2022 08 26;14(17):