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Martignano, F.

Publications and source records attributed to Martignano, F..

4 recordsLinked to original sources

Recurrent leukaemia stem cell states define the antigenic landscape of paediatric Acute Myeloid Leukaemia

Paediatric acute myeloid leukaemia (pAML) remains a leading cause of childhood cancer mortality, with disease heterogeneity representing a major obstacle to effective immunotherapy. To enable rational immunotherapy design accounting for such heterogeneity, we combined single-cell transcriptomics and surface proteomics (CITE-seq). Using an integrated framework for malignant cell identification and unbiased gene program identification, we resolved three conserved leukaemia stem cell (LSC) subtypes, primitive (P-LSC), monocytic (M-LSC), and erythroid-like (E-LSC), that frequently coexist within individual patients in varying proportions and represent distinct stem-cell states with characteristic immunophenotypes and transcriptional programmes. Quantitative surface antigen profiling revealed that no single target achieved full LSC coverage. CLEC12A, an antigen currently being evaluated clinically, was expressed across P-LSC and M-LSC but was largely absent from E-LSC. In contrast, CD84 provided complementary coverage in the P and M groups and served as the primary target in the E-LSC population. The combination of CLEC12A and CD84 provided broad coverage across all three LSC subtypes, while sparing healthy haematopoietic stem cells. Validation across independent single-cell and bulk cohorts confirmed the robustness of this combination. These findings establish a paediatric-specific framework for antigen prioritisation in AML, identify CLEC12A/CD84 as a robust dual-targeting strategy across heterogeneous LSC states, and provide a blueprint for the rational design of next-generation CAR T-cell combinations.

cancer biology↗

Detecting cell-of-origin and cancer-specific features of cell-free DNA with Nanopore sequencing

The Oxford Nanopore (ONT) platform provides portable and rapid genome sequencing, and its ability to natively profile DNA methylation without complex sample processing is attractive for clinical sequencing. We recently demonstrated ONT shallow whole-genome sequencing to detect copy number alterations (CNA) from the circulating tumor DNA (ctDNA) of cancer patients. Here, we show that cell-type and cancer-specific methylation changes can also be detected, as well as cancer-associated fragmentation signatures. This feasibility study suggests that ONT shallow WGS could be a powerful tool for liquid biopsy, especially real-time medical applications.

genomics↗

Nanopore sequencing from liquid biopsy: analysis of copy number variations from cell-free DNA of lung cancer patients

Alterations in the genetic content, such as Copy Number Variations (CNVs) is one of the hallmarks of cancer and their detection is used to recognize tumoral DNA. Analysis of cell-free DNA from plasma is a powerful tool for non-invasive disease monitoring in cancer patients. Here we exploit third generation sequencing (Nanopore) to obtain a CNVs profile of tumoral DNA from plasma, where cancer-related chromosomal alterations are readily identifiable. Compared to Illumina sequencing -the only available alternative- Nanopore sequencing represents a viable approach to characterize the molecular phenotype, both for its ease of use, costs and rapid turnaround (6 hours).

cancer biology↗

Evidence for RNA editing in the transcriptome of 2019 Novel Coronavirus

The COVID-19 outbreak has become a global health risk and understanding the response of the host to the SARS-CoV-2 virus will help to contrast the disease. Editing by host deaminases is an innate restriction process to counter viruses, and it is not yet known whether it operates against Coronaviruses. Here we analyze RNA sequences from bronchoalveolar lavage fluids derived from infected patients. We identify nucleotide changes that may be signatures of RNA editing: Adenosine-to-Inosine changes from ADAR deaminases and Cytosine-to-Uracil changes from APOBEC ones. A mutational analysis of genomes from different strains of human-hosted Coronaviridae reveals mutational patterns compatible to those observed in the transcriptomic data. Our results thus suggest that both APOBECs and ADARs are involved in Coronavirus genome editing, a process that may shape the fate of both virus and patient. For the casual ReaderJust to make a few things clear: - RNA editing and DNA editing are PHYSIOLOGICAL processes. Organisms uses them to (a) try to fight viruses, (b) increase heterogeneity inside cells (on many levels), (c) recognise their own RNA. - our work suggests that: (a) cells use RNA editing in trying to deal with Coronaviruses. We don't know to what extent they succeed (and it would be nice if we could help them). (b) Whatever happens, mutations inserted by RNA editing fuel viral evolution. We don't know whether viruses actively exploit this. - If you (scientist or not) think our work suggests ANYTHING ELSE, contact us. It can be a first step to help fight these !@#$ coronavirus, or towards a Nobel prize - but we need to discuss it thoroughly. - If you think these cellular processes are fascinating, join the club and contact us. We can have a nice cup of tea while chatting how wondrous nature is at coming up with extraordinary solutions...

bioinformatics↗