2021 was a fruitful year for research and we are pleased that single-cell analysis using Tapestri enabled numerous impactful publications. Tapestri was used for a variety of applications, such as revealing the resistance mechanism of cancer, detecting measurable residual disease (MRD), and assessing the mutations of gene-edited disease models. Several studies also leveraged single-cell analysis to investigate disorders of solid tissues, including melanoma, lung cancer, and vascular disease. Below, we have compiled a list of the publications so you can review the great work of your peers.
As this new year begins, we are excited about the insights that single-cell DNA sequencing and multi-omics will reveal. At Mission Bio, we continue to live and breathe our mission: to enable researchers to better understand diseases and develop next-generation of therapeutics. Looking forward, we are eager to hear about the great breakthroughs to come. Bravo to a great 2021 and cheers to another great year ahead!
Profiling Heme Malignancies
Sahoo S.S. et al., Nature Medicine Clinical evolution, genetic landscape, and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes Uncovered diversity of somatic genetic rescue events in pediatric instances of SAMD9/9L syndromes, some of which serve as “natural gene therapy.” Listen to the podcast!
Alberti-Servera, L. et al., Blood Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia First study to assess the clonality and order of mutation acquisition of T-cell acute lymphoblastic leukemia (T-ALL) patient samples.
Patel, B.A. et al., Haematologica Detectable mutations precede late myeloid neoplasmia in aplastic anemia Identified evolution of mutations in a rare case where a severe aplastic anemia (SAA) patient who received immunosuppressive therapy developed MDS/AML with normal cytogenetics.
Lim, K.H. et al., Blood Advances Clonal evolution and heterogeneity in advanced systemic mastocytosis revealed by single-cell DNA sequencing Investigation of resistance to the multikinase inhibitor, midostaurin, in patients with advanced systemic mastocytosis (advSM).
Thijssen, R. et al., Blood Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias Revealed the effect of TP-53 mutation status on the treatment of AML with the BH3-mimetic drugs.
Understanding Resistance and Relapse
Peretz, C.A. et al., Blood Advances Single cell DNA sequencing reveals complex mechanisms of resistance to quizartinib Investigated mechanisms of resistance to quizartinib in patients with FLT3-ITD mutated AML.
Wang, F. et al., Nature Communications Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia Investigated clones that enabled relapse in AML patients who received IDH inhibitor treatment.
Thompson E.R. et al., Blood Advances Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors Identified clonal architecture of acquired genomic resistance to BTK and BCL2 inhibitors in CLL and MCL patients.
Assessing Solid Tumors and Tissues
Zhao Y. et al., Nature Diverse alterations associated with resistance to KRAS(G12C) inhibition Revealed a heterogeneous pattern of resistance involving many genes and multiple subclonal events emerging during KRAS (G12C) inhibitor treatment for lung and colorectal cancer.
Marin-Bejar, O. et al., Cancer Cell Evolutionary predictability of genetic versus nongenetic resistance to anticancer drugs in melanoma An analysis of genetic and nongenetic mechanisms of therapy resistance in melanoma.
Ren, A. et al., Nature PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism Single-nuclei sequencing revealed patterns of co-mutation that promote cerebral cavernous malformations (CCMs). Listen to the podcast!
Detecting Measurable Residual Disease (MRD) & Clonal Hematopoiesis of Indeterminate Potential (CHIP)
Thompson E.R. et al., Haematologica Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing First publication in T-cell acute lymphoblastic leukemia (T-ALL) that highlights SNVs/indels and MRD detection.
Dillon L.W. et al., Blood Cancer Discovery Personalized single-cell proteogenomics to distinguish acute myeloid leukemia from nonmalignant clonal hematopoiesis Distinguished malignant variants of AML from age-related clonal hematopoiesis by resolving immunophenotypic identity of clonal architecture.
Kennedy, A.L. et al., Nature Communications Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome Zygosity and CN-LOH are reliably measured with high sensitivity (0.1%) and predict progression to leukemia in patients with Shwachman-Diamond syndrome.
Measuring Genome-Edited Cancer Models
Ilacobucci, I. et al., Blood Modeling and targeting of erythroleukemia by hematopoietic genome editing Used scDNA-seq to analyze CRISPR-edited cells in preclinical models of acute erythroid leukemia (AEL). Listen to the podcast!
Using Multi-omics to Explore Genotype + Phenotype
Demaree, B. et al., Nature Communications Joint profiling of DNA and proteins in single cells to dissect genotype-phenotype associations in leukemia Genotype & immunophenotype “decoupling” in leukemias samples was revealed using single-cell multi-omics.
Sharma R. et al., Blood Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue Single-cell DNA+protein multi-omics revealed somatic genetic rescue events that evolved independently in HSPCs, myeloid cells, and B-cells in patients with telomere disorders.
Want a complete list of Tapestri publications? Get it here.
