Genny Buson

Single‐cell‐based non‐invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis

Tamara Stampalija, Claudio Forcato, F. R. Grati, P. Volpe et autres

OBJECTIVE: Pathogenic or likely pathogenic copy-number variants (p/lpCNVs) are a significant cause of perinatal morbidity and mortality. Current prenatal screening based on cell-free DNA (cfDNA) fails to detect the majority of microimbalances (microdeletions/microduplications), leaving a significant residual risk of undetected chromosomal abnormalities. …

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P815: Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: First large-scale clinical validation study results

Francesca Romana Grati, Tamara Stampalija, Claudio Forcato, Paolo Volpe et autres

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OC06.01: Single cell sequencing of circulating extravillous trophoblasts for non‐invasive fetal copy number variant screening

Francesca Romana Grati, T. Stampalija, Emma Bertucci, Claudia Izzi et autres

Pathogenic microdeletions/duplications (pCNVs) account for a significant perinatal morbidity/mortality and have a 1/100-200 prevalence in the general prenatal population. Cell-free DNA non-invasive testing (cfNIPT) shows significant limitations for comprehensive profiling of pCNVs <7Mb in size. A proof-of-concept study demonstrated the feasibility of …

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Hydatidiform mole identification using non‐invasive single‐cell sequencing of fetal circulating extravillous trophoblasts isolated from maternal blood

Chiara Mangano, A. Doffini, Claudio Forcato, Simona Boito et autres

Figure S1: Sonographic images The fetus had multiple abnormalities including myelomeningocele, micrognathia, cleft lip, omphalocele and malpositioning of both hands with bilateral syndactyly. In the figure are depicted: (a) placenta showing the presence of thickening and a heterogeneous structure with numerous 'Swiss-cheese' …

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P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood

Anna Doffini, Claudio Forcato, Chiara Mangano, Debora Lattuada et autres

Introduction: Congenital anemias are a rare genetic cause of nonimmune hydrops fetalis (NIHF).Congenital anemias might be amenable to blood transfusions.Our objective was to review the spectrum of congenital anemias in cases of NIHF diagnosed by exome sequencing (ES).Methods: A systematic review of …

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Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling

Anna Doffini, Claudio Forcato, Chiara Mangano, Debora Lattuada et autres

OBJECTIVE: To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection. METHODS: Determination of …

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Abstract 6087: Evaluation of intra-tumor heterogeneity by single-cell copy number profiling of circulating multiple myeloma cells using Shannon index

Alberto Ferrarini, Claudio Forcato, Valentina Del Monaco, Mario Terracciano et autres

Abstract Tumors develop through an evolutionary process in which genomic lesions accumulate in different coexisting subclones leading to intra-tumor heterogeneity (ITH). ITH allows the tumor to adapt to microenvironments and to resist therapies and has been shown to be a prognostic marker. …

OP049: Automated isolation and genetic characterization of single circulating fetal trophoblasts in pregnant women

Claudio Forcato, Chiara Mangano, Debora Lattuada, Roberta Aversa et autres

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Circulating tumor cell copy-number heterogeneity in ALK-rearranged non-small-cell lung cancer resistant to ALK inhibitors

Marianne Oulhen, Patrycja Pawlikowska, Tala Tayoun, Marianna Garonzi et autres

Abstract Gatekeeper mutations are identified in only 50% of the cases at resistance to Anaplastic Lymphoma Kinase (ALK)-tyrosine kinase inhibitors (TKIs). Circulating tumor cells (CTCs) are relevant tools to identify additional resistance mechanisms and can be sequenced at the single-cell level. Here, …

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Abstract 598: Resistance mechanisms to BRAF inhibition identified by single circulating tumor cell and cell-free tumor DNA molecular profiling in BRAF-mutant non-small cell lung cancer

Laura Mezquita, Marianne Oulhen, Agathe Aberlenc, Marc Deloger et autres

Abstract Background: Combination therapy with dabrafenib + trametinib demonstrated robust activity in patients (pts) with BRAFV600E-mutant advanced non-small cell lung cancer (NSCLC), but its resistance mechanisms are poorly known. Liquid biopsy components such as circulating tumor cells (CTCs) and cell-free (cf) tumor …

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Abstract 2702: Analysis of low-pass sequencing data reveals extensive loss-of-heterozygosity in circulating multiple myeloma cells

Claudio Forcato, Alberto Ferrarini, Genny Buson, Paola Tononi et autres

Abstract Background: Clonal evolution and heterogeneity are among the factors that make treatment of Multiple Myeloma (MM) challenging, and disease monitoring requires invasive bone marrow biopsies. Tumor heterogeneity has previously been demonstrated at copy-number level, showing patterns of recurring Copy-Number Alterations (CNA). …

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Abstract 1327: Genome-wide loss-of-heterozygosity calling from low-pass sequencing of ligation-mediated whole genome amplified DNA in single tumor cells

Alberto Ferrarini, Claudio Forcato, Marianna Garonzi, Genny Buson et autres

Abstract Background: Genome-wide analysis of Loss-of-heterozygosity (LoH) has been shown to be important in several contexts, including the assessment of BRCAness signature, a marker of homologous repair deficiency in several cancer types associated with efficacy of platinum therapy and PARP inhibitors. Methods …

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