A5073332412- Acute Myeloid Leukemia Research
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Cancer Genomics and Diagnostics
- Chronic Lymphocytic Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Lymphoma Diagnosis and Treatment
- Acute Lymphoblastic Leukemia research
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Microtubule and mitosis dynamics
- Neuroblastoma Research and Treatments
- Colorectal Cancer Treatments and Studies
- RNA modifications and cancer
- Soft tissue tumor case studies
- Sarcoma Diagnosis and Treatment
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Eosinophilic Disorders and Syndromes
- Tumors and Oncological Cases
- Cancer-related gene regulation
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Environmental DNA in Biodiversity Studies
University of Bari Aldo Moro
2008-2024
Hospices Civils de Lyon
2015
Istituto di Genetica Molecolare
1995-1996
Double minutes (dmin) and homogeneously staining regions (hsr) are the cytogenetic hallmarks of genomic amplification in cancer. Different mechanisms have been proposed to explain their genesis. Recently, our group showed that MYC -containing dmin leukemia cases arise by excision (episome model). In present paper we investigated 10 cell lines from solid tumors showing MYCN as or hsr. Particularly revealing results were provided two subclones neuroblastoma line STA-NB-10, one dmin-only second...
The mechanism for generating double minutes chromosomes (dmin) and homogeneously staining regions (hsr) in cancer is still poorly understood. Through an integrated approach combining next-generation sequencing, single nucleotide polymorphism array, fluorescent situ hybridization polymerase chain reaction-based techniques, we inferred the fine structure of MYC-containing dmin/hsr amplicons harboring sequences from several different seven tumor cell lines, characterized unprecedented number...
Double minutes (dmin), homogeneously staining regions, and ring chromosomes are vehicles of gene amplification in cancer. The underlying mechanism leading to their formation as well structure function acute myeloid leukemia (AML) remain mysterious. We combined a range high-resolution genomic methods investigate the architecture expression pattern amplicons involving chromosome band 8q24 23 cases AML (AML-amp). This revealed that different MYC-dmin architectures can coexist within same...
Double minutes (dmin)-circular, extra-chromosomal amplifications of specific acentric DNA fragments-are relatively frequent in malignant disorders, particularly solid tumors. In acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), dmin are observed approximately 1% the cases. Most them consist an amplified segment from chromosome band 8q24, always including MYC gene. Besides this information, little is known about their internal structure. We have characterized detail genomic...
DNA samples from about 100 human-hamster somatic cell hybrids, previously characterized by conventional banding techniques, were amplified with dual-Alu PCR. The products then used as probes in FISH experiments on normal human metaphases for an accurate cytogenetic characterization of the material retained each hybrid. In addition to entire chromosomes, most hybrids found contain one or a few chromosome fragments, result rearrangements that had occurred vitro. Forty additional primary which...
Through a combined approach integrating RNA-Seq, SNP-array, FISH and PCR techniques, we identified two novel t(15;21) translocations leading to the inactivation of RUNX1 its partners SIN3A TCF12. One is complex t(15;21)(q24;q22), with both breakpoints mapped at nucleotide level, joining UBL7-AS1 in patient myelodysplasia. The other recurrent t(15;21)(q21;q22), juxtaposing TCF12, an opposite transcriptional orientation, three myeloid leukemia cases. Since our transcriptome analysis indicated...
We here describe a leukemogenic role of the homeobox gene UNCX, activated by epigenetic modifications in acute myeloid leukemia (AML). found ectopic activation UNCX patient harboring t(7;10)(p22;p14) translocation, 22 61 additional cases [a total 23 positive patients out 62 (37.1%)], and 6 75 (8%) AML cell lines. is embedded within low-methylation region (canyon) encodes for transcription factor involved somitogenesis neurogenesis, with specific expression eye, brain, kidney. turned to be...
Abstract Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, particular atypical lipomatous tumors (ALT). In ALT, the ring invariably contain amplified material from central part long arm chromosome 12, mainly 12q12→15, but often also segments other involved. Previous studies have shown that one recurrent amplicons located 12q13.3‐14.1 harboring candidate target genes TSPAN31 CDK4 , has a sharp centromeric border. To characterize this...
Double minutes (dmin), homogeneously staining regions, and ring chromosomes are vehicles of gene amplification in cancer. The underlying mechanism leading to their formation as well structure function acute myeloid leukemia (AML) remain mysterious. We combined a range high-resolution genomic methods investigate the architecture expression pattern amplicons involving chromosome band 8q24 23 cases AML (AML-amp). This revealed that different MYC-dmin architectures can coexist within same...
In recent years, the importance of isolating single cells from blood circulation for several applications, such as non-invasive tumour diagnosis, monitoring minimal residual disease, and analysis circulating fetal prenatal urged need to set up innovative methods. For different methods were developed. All show some weaknesses, especially a limited sensitivity, specificity. Here we present new method or number adhered SBS slides (Tethis S.p.a.) (a glass slide coated with Nanostructured...
Abstract Chromosomal translocations play a crucial role in tumorigenesis, often resulting the formation of chimeric genes or gene deregulation through position effects. T-cell acute lymphoblastic leukemia (T-ALL) is associated with large number such rearrangements. We report ectopic expression 3' portion EST DA926692 bone marrow childhood T-ALL case showing t(2;11)(q11.2;p15.1) translocation as sole chromosome abnormality. The breakpoints, defined at sequence level, mapped within HPS5...