Mature plasmacytoid dendritic cells associated with acute myeloid leukemia show similar genetic mutations and expression profiles to leukemia cells

Gong, Xiaoyuan; Li, Chunhong; Wang, Ying; Rao, Qing; Mi, Yingchang; Wang, Min; Wei, Hui; Wang, Jianxiang

doi:10.1097/bs9.0000000000000097

Cited by 5 publications

(2 citation statements)

References 17 publications

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“…Thus, two subsets of pDC-AML can be suggested, pDC-M0-AML and secondary monocytic pDC-AML [ 102 , 103 ]. Recently, such results were also confirmed in two cases of monocytic pDC-AML, bearing RUNX1 and FLT3-ITD mutations in blast cells and in pDCs [ 113 ].…”

Section: Genetics Of Pdc Proliferation Associated With a Myeloid Diso...mentioning

confidence: 66%

Genetics and Epigenetics in Neoplasms with Plasmacytoid Dendritic Cells

Renosi

Callanan

Lefebvre

2022

Cancers

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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 MYB/MYC rearrangements as well as recurrent deletions involving ETV6, IKZF1, RB1, and TP53 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, RUNX1 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.

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Section: Genetics Of Pdc Proliferation Associated With a Myeloid Diso...mentioning

confidence: 66%

Genetics and Epigenetics in Neoplasms with Plasmacytoid Dendritic Cells

Renosi

Callanan

Lefebvre

2022

Cancers

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“…It is unclear whether mature pDC proliferation in tissue and bone marrow in the context of AML are the same neoplastic process as those in pDC-AML. Reports have shown that pDCs in MPDCP associated with AML had genetic mutations and expression profiles similar to those in the associated AML blasts, including pathogenic RUNX1 and FLT3-ITD mutations [11]. The following table summarizes reported cases where pDCs were increased in bone marrow with a concurrent diagnosis of AML.…”

Section: Plasmacytoid Dendritic Cell Development and Summary Of Repor...mentioning

confidence: 99%

Plasmacytoid Dendritic Cell Proliferation Associated with Acute Myeloid Leukemia, Case Report and Review of Literature

YW,

et al. 2023

annhematoloncol

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We present a typical case of plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia (pDC-AML). The patient was a 65-year-old male admitted for new onset progressive pancytopenia over the course of three weeks. Diagnostic marrow revealed 27% myeloblasts. In addition, flow cytometry and immunohistochemistry studies identified an 18% population of immature plasmacytoid dendritic cells. Baseline next-generation sequencing identified pathogenic mutations in ASXL1, EZH2, FLT3, and RUNX1. The patient underwent induction chemotherapy for a diagnosis of pDC-AML. One month after chemotherapy, evaluation for Measurable Residual Disease (MRD) using multiparameter flow cytometry was interpreted as negative with changes related to treatment. pDC-AML is a newly described rare subtype of acute myeloid leukemia which can impose diagnostic challenges. Clinical, pathologic, and molecular correlation are important to render an accurate final diagnosis. We review the published literature on pDC-AML cases and discuss pDC biology, and the process for differentiating the diagnosis of pDC-AML from those of blastic plasmacytoid dendritic cell neoplasm or mature plasmacytoid dendritic cell proliferations associated with other myeloid neoplasms. The AML MRD evaluation for pDC-AML is a particular challenge. To this end, additional molecular studies, including MRD tests using next-generation sequencing, can be of great help.

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