A single-cell survey of cellular hierarchy in acute myeloid leukemia

J Hematol Oncol. 2020 Sep 25;13(1):128. doi: 10.1186/s13045-020-00941-y.

Abstract

Background: Acute myeloid leukemia (AML) is a fatal hematopoietic malignancy and has a prognosis that varies with its genetic complexity. However, there has been no appropriate integrative analysis on the hierarchy of different AML subtypes.

Methods: Using Microwell-seq, a high-throughput single-cell mRNA sequencing platform, we analyzed the cellular hierarchy of bone marrow samples from 40 patients and 3 healthy donors. We also used single-cell single-molecule real-time (SMRT) sequencing to investigate the clonal heterogeneity of AML cells.

Results: From the integrative analysis of 191727 AML cells, we established a single-cell AML landscape and identified an AML progenitor cell cluster with novel AML markers. Patients with ribosomal protein high progenitor cells had a low remission rate. We deduced two types of AML with diverse clinical outcomes. We traced mitochondrial mutations in the AML landscape by combining Microwell-seq with SMRT sequencing. We propose the existence of a phenotypic "cancer attractor" that might help to define a common phenotype for AML progenitor cells. Finally, we explored the potential drug targets by making comparisons between the AML landscape and the Human Cell Landscape.

Conclusions: We identified a key AML progenitor cell cluster. A high ribosomal protein gene level indicates the poor prognosis. We deduced two types of AML and explored the potential drug targets. Our results suggest the existence of a cancer attractor.

Keywords: Acute myeloid leukemia; Cancer attractor; Microwell-seq; Ribosomal protein; Single-cell mRNA sequencing; Single-molecule real-time sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Examination / methods*
  • Cell Lineage
  • Clone Cells
  • Computer Systems
  • DNA, Mitochondrial / genetics
  • DNA, Neoplasm / genetics
  • Gene Expression Regulation, Leukemic
  • Gene Regulatory Networks
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Leukemia, Monocytic, Acute / genetics
  • Leukemia, Monocytic, Acute / pathology
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / metabolism
  • Leukemia, Myeloid, Acute / pathology*
  • Neoplasm Proteins / genetics
  • Neoplastic Stem Cells / chemistry
  • Neoplastic Stem Cells / pathology
  • Phenotype
  • Prognosis
  • RNA, Messenger / analysis
  • RNA, Neoplasm / analysis
  • Recurrence
  • Ribosomal Proteins / genetics
  • Single-Cell Analysis / methods*
  • Transcription Factors / physiology

Substances

  • DNA, Mitochondrial
  • DNA, Neoplasm
  • Neoplasm Proteins
  • RNA, Messenger
  • RNA, Neoplasm
  • Ribosomal Proteins
  • Transcription Factors