12 results on '"Antonella Zagaria"'
Search Results
2. FLT3 mutational analysis in acute myeloid leukemia: Advantages and pitfalls with different approaches
- Author
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Cosimo, Cumbo, Francesco, Tarantini, Luisa, Anelli, Antonella, Zagaria, Giorgina, Specchia, Pellegrino, Musto, and Francesco, Albano
- Subjects
Leukemia, Myeloid, Acute ,fms-Like Tyrosine Kinase 3 ,Oncology ,Mutation ,High-Throughput Nucleotide Sequencing ,Humans ,Hematology - Abstract
FMS-like tyrosine kinase 3 (FLT3) is one of the most closely studied genes in blood diseases. Numerous methods have been adopted for analyses, mainly in acute myeloid leukemia (AML) diagnostic work-up. According to international recommendations, the current gold standard approach allows FLT3 canonical mutations to be investigated, providing the main information for risk assessment and treatment choice. However, the technological improvements of the last decade have permitted "black side" gene exploration, revealing numerous hidden aspects of its role in leukemogenesis. The advent of the next-generation sequencing era emphasizes lights and shadows of FLT3 conventional mutational analysis, highlighting the need for a more comprehensive study of the gene. However, more extensive analysis is opening new, unexplored questions whose impact on clinical outcomes is still unknown. The present work is focused on the main topics regarding FLT3 mutational analysis in AML, debating the strengths and weaknesses of the current gold standard approach. The rights and wrongs of NGS introduction in clinical practice will be discussed, showing that a more extensive knowledge of FLT3 mutational status could lead to reconsidering its role in AML management.
- Published
- 2022
3. Droplet Digital PCR Is a Robust Tool for Monitoring Minimal Residual Disease in Adult Philadelphia-Positive Acute Lymphoblastic Leukemia
- Author
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Crescenzio Francesco Minervini, Antonella Zagaria, Paola Orsini, Paola Carluccio, Elisa Parciante, Giorgina Specchia, Cosimo Cumbo, Angela Minervini, Claudia Brunetti, Giuseppina Tota, Luisa Anelli, Nicoletta Coccaro, Paola Casieri, Francesco Albano, and Luciana Impera
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Adult ,Male ,0301 basic medicine ,Oncology ,Acute promyelocytic leukemia ,medicine.medical_specialty ,Neoplasm, Residual ,Fusion Proteins, bcr-abl ,Real-Time Polymerase Chain Reaction ,Philadelphia chromosome ,Pathology and Forensic Medicine ,law.invention ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Limit of Detection ,law ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Humans ,Philadelphia Chromosome ,Digital polymerase chain reaction ,Polymerase chain reaction ,Aged ,business.industry ,Imatinib ,Middle Aged ,Precursor Cell Lymphoblastic Leukemia-Lymphoma ,medicine.disease ,Minimal residual disease ,030104 developmental biology ,Real-time polymerase chain reaction ,Fusion transcript ,030220 oncology & carcinogenesis ,Molecular Medicine ,Female ,business ,medicine.drug - Abstract
The breakpoint cluster region-abelson 1 p190 fusion transcript is the most frequent variant observed in Philadelphia-positive (Ph+) acute lymphoblastic leukemia (ALL). Qualitative-PCR and real-time quantitative PCR are the currently used methods to monitor minimal residual disease (MRD) in Ph+ ALL patients; for the latter, full standardization and an international quality validation are lacking. Here, we developed a droplet digital PCR (ddPCR) assay for MRD monitoring in p190+ ALL cases. The analytical performance was assessed by the limit-of-detection determination, showing a reliability, sensitivity, and precision of the assay of up to 0.001%. Comparison of results obtained with qualitative PCR and ddPCR in 117 follow-up samples from 16 of 26 Ph+ ALL patients showed discordant results in 27% of cases (32 of 117). Real-time quantitative PCR analysis of 19 ddPCR-positive samples with a low tumor burden failed to provide quantitative results in 63% of cases (12 of 19). These results highlight that in p190+ ALL the ddPCR method has a sufficient analytical performance for very low MRD monitoring and for predicting molecular relapse several months before hematologic relapse. In conclusion, MRD monitoring by ddPCR may better stratify Ph+ ALL patients at risk of disease progression.
- Published
- 2018
4. Mutational analysis in BCR - ABL1 positive leukemia by deep sequencing based on nanopore MinION technology
- Author
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Antonella Zagaria, Cosimo Cumbo, Giorgina Specchia, Angela Minervini, Giuseppina Tota, Nicoletta Coccaro, Antonella Russo Rossi, Paola Orsini, Luisa Anelli, Claudia Brunetti, Francesco Albano, Crescenzio Francesco Minervini, Paola Casieri, and Luciana Impera
- Subjects
0301 basic medicine ,DNA Mutational Analysis ,Clinical Biochemistry ,Fusion Proteins, bcr-abl ,Biology ,medicine.disease_cause ,Sensitivity and Specificity ,DNA sequencing ,Deep sequencing ,Pathology and Forensic Medicine ,Nanopores ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,hemic and lymphatic diseases ,medicine ,Humans ,Molecular Biology ,Sanger sequencing ,Mutation ,High-Throughput Nucleotide Sequencing ,medicine.disease ,Molecular biology ,Nanopore ,Leukemia ,030104 developmental biology ,030220 oncology & carcinogenesis ,Minion ,symbols - Abstract
We report a third-generation sequencing assay on nanopore technology (MinION) for detecting BCR-ABL1 KD mutations and compare the results to a Sanger sequencing(SS)-based test in 24 Philadelphia-positive (Ph+) leukemia cases. Our data indicates that MinION is markedly superior to SS in terms of sensitivity, costs and timesaving, and has the added advantage of determining the clonal configuration of multiple mutations. We demonstrate that MinION is suitable for employment in the hematology laboratory for detecting BCR-ABL1 KD mutation in Ph+ leukemias.
- Published
- 2017
5. A novel t(4;16)(q25;q23.1) associated with EGF and ELOVL6 deregulation in acute myeloid leukemia
- Author
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Paola Casieri, Luciana Impera, Giorgina Specchia, Angela Minervini, Francesco Albano, Giuseppina Tota, Nicoletta Coccaro, Crescenzio Francesco Minervini, Antonella Zagaria, Luisa Anelli, and Domenico Pastore
- Subjects
Adult ,Male ,NPM1 ,Fatty Acid Elongases ,Biology ,Translocation, Genetic ,Fusion gene ,Acetyltransferases ,Epidermal growth factor ,hemic and lymphatic diseases ,Genetics ,medicine ,Humans ,Gene ,In Situ Hybridization, Fluorescence ,Chromosome Aberrations ,Epidermal Growth Factor ,medicine.diagnostic_test ,Chromosome Mapping ,Myeloid leukemia ,Chromosome ,General Medicine ,Molecular biology ,Leukemia, Myeloid, Acute ,Real-time polymerase chain reaction ,Karyotyping ,Chromosomes, Human, Pair 4 ,Gene Fusion ,Nucleophosmin ,Chromosomes, Human, Pair 16 ,Fluorescence in situ hybridization - Abstract
About 50% of acute myeloid leukemia (AML) patients show the occurrence of non-random chromosome rearrangements. Most of the recurrent karyotypic rearrangements in AML have been defined as distinct disease entities in the 2008 World Health Organization (WHO) classification. In this paper we report an AML case showing a novel t(4;16)(q25;q23.1) rearrangement causing the activation of epidermal growth factor (EGF) and elongation of long-chain fatty acids family member 6 (ELOVL6) genes, rather than the generation of a novel fusion gene.
- Published
- 2013
6. A new recurrent chromosomal translocation t(3;11)(q13;q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene
- Author
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Angela Minervini, Francesco Albano, Antonella Zagaria, Luisa Anelli, Alessandra Ricco, Paola Casieri, Giorgina Specchia, Nicoletta Coccaro, and Valentina Buttiglione
- Subjects
Male ,Cancer Research ,Receptors, Cell Surface ,Chromosomal translocation ,Biology ,Translocation, Genetic ,Pathogenesis ,Gene Frequency ,hemic and lymphatic diseases ,Gene expression ,medicine ,Humans ,Receptor ,Gene ,Aged ,Ineffective Hematopoiesis ,Anemia, Refractory, with Excess of Blasts ,Chromosomes, Human, Pair 11 ,Myelodysplastic syndromes ,Anemia, Refractory ,Myeloid leukemia ,Hematology ,Middle Aged ,medicine.disease ,Up-Regulation ,Gene Expression Regulation, Neoplastic ,Oncology ,Case-Control Studies ,Myelodysplastic Syndromes ,Immunology ,Female ,Chromosomes, Human, Pair 3 - Abstract
Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases characterized by ineffective hematopoiesis and an increased risk of evolution to acute myeloid leukemia (AML). In this study, the combination of conventional cytogenetic, FISH studies and molecular techniques allowed us to unveil a novel recurrent t(3;11)(q13;q14) causing the overexpression of the immunoglobulin-like domain-containing receptor (ILDR1) gene. The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup. The biological implications of the ILDR1 overexpression in MDS pathogenesis and its potential prognostic significance should be further investigated.
- Published
- 2012
7. Molecular cytogenetic characterization of deletions on der(9) in chronic myelocytic leukemia
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Mariano Rocchi, Mario Annunziata, Luisa Anelli, Fabrizio Pane, Ettore Mariano Schiavone, Antonella Zagaria, Giorgina Specchia, Francesco Albano, Vincenzo Liso, Laura Vicari, Zagaria, Antonella, Anelli, Luisa, Albano, Francesco, Vicari, Laura, Schiavone, Ettore Mariano, Annunziata, Mario, Pane, Fabrizio, Liso, Vincenzo, Rocchi, Mariano, and Specchia, Giorgina
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Adult ,Male ,Cancer Research ,Derivative chromosome ,Chromosomes, Human, Pair 22 ,Fusion Proteins, bcr-abl ,Translocation Breakpoint ,Genes, abl ,Biology ,Philadelphia chromosome ,Chromosome Aberration ,Genetic ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,hemic and lymphatic diseases ,Genetics ,medicine ,Humans ,Philadelphia Chromosome ,Molecular Biology ,Gene ,In Situ Hybridization, Fluorescence ,Sequence (medicine) ,Chromosome Aberrations ,ABL ,breakpoint cluster region ,Middle Aged ,medicine.disease ,Molecular biology ,Proto-Oncogene Proteins c-bcr ,Female ,Chromosome Deletion ,Chromosomes, Human, Pair 9 ,Chromosome 22 ,Human - Abstract
The t(9;22)(q34;q11), generating the Philadelphia chromosome, is found in more than 90% of patients with chronic myelocytic leukemia (CML). Deletions adjacent to the translocation breakpoint on the derivative chromosome 9 have been described by several groups. These studies revealed two primary points: (1) genomic microdeletions were concomitant with the t(9;22) rearrangement; and (2) the location of the deleted sequence was centromeric to ABL and telomeric to BCR genes. We report on a detailed molecular cytogenetic characterization of chromosomal rearrangements in two CML patients bearing a complex variant t(9;22) and insertions of chromosome 22 sequences in 9q34. Our study shows that the location of the deleted sequences was downstream of the ABL gene and that genomic microdeletions were concomitant with the ins(9;22)(q34;q11q11) rearrangement.
- Published
- 2006
8. Submicroscopic deletions in an acute myeloid leukemia case with a four-way t(8;11;16;21)
- Author
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Arcangelo Liso, Salvatore Mirto, Alessandra Santoro, Luisa Anelli, Antonella Zagaria, Vincenzo Liso, Giorgina Specchia, Francesco Albano, and Mariano Rocchi
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congenital, hereditary, and neonatal diseases and abnormalities ,Cancer Research ,Chromosomes, Human, Pair 21 ,Bone Marrow Cells ,Chromosomal translocation ,Biology ,Translocation, Genetic ,Fusion gene ,chemistry.chemical_compound ,hemic and lymphatic diseases ,medicine ,Humans ,In Situ Hybridization, Fluorescence ,Sequence Deletion ,medicine.diagnostic_test ,Chromosomes, Human, Pair 11 ,Breakpoint ,Myeloid leukemia ,Hematology ,medicine.disease ,Molecular biology ,Leukemia ,Oncology ,RUNX1 ,chemistry ,Leukemia, Myeloid ,Acute Disease ,Chromosomes, Human, Pair 16 ,Chromosomes, Human, Pair 8 ,Fluorescence in situ hybridization - Abstract
The t(8;21)(q22;q22) rearrangement is observed in about 15% of acute myelocitic leukemia (AML) cases, while variant t(8;21) translocations are detected in 6–10% of AML patients positive for the 5′RUNX1/3′CBFA2T1 fusion gene. We report a detailed molecular cytogenetic analysis of a four-way variant t(8;11;16;21)(q22;q14;q12;q22) performed by fluorescence in situ hybridization with specific BAC and PAC clones. The study demonstrated the loss of several megabases belonging to chromosomes 11 and 16 whereas no deletion was detected on der(21). These findings suggest that a precise breakpoint characterization could identify submicroscopic genomic deletions whose meaning remains to be defined.
- Published
- 2005
9. Molecular cytogenetic study of instability at 1q21∼q32 in adult acute lymphoblastic leukemia
- Author
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Luisa Anelli, Arcangelo Liso, Alessandra Pannunzio, Mariano Rocchi, Nicoletta Archidiacono, Giorgina Specchia, Antonella Zagaria, Francesco Albano, and Vincenzo Liso
- Subjects
Precursor Cell Lymphoblastic Leukemia Lymphoma ,Genetics ,Cancer Research ,Adult Acute Lymphoblastic Leukemia ,Chromosome ,Chromosomal translocation ,Karyotype ,B Acute Lymphoblastic Leukemia ,Biology ,Molecular Biology - Abstract
In the present paper, we report a molecular cytogenetic study of 1q abnormalities associated with t(8;14)(q24;q32) in an adult common B acute lymphoblastic leukemia case with FAB-L2 morphology. The use of appropriate molecular cytogenetic probes allowed us to detect 13 different subclones showing heterogeneous chromosome 1 abnormalities. A complex pattern of rearrangements consisting of translocations, duplications, and inversions was observed. Breakage-fusion-bridge cycle and jumping translocation are hypothesized to have been involved in generating the large number of aberrations we detected.
- Published
- 2005
10. Decreased TET2 gene expression during chronic myeloid leukemia progression
- Author
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A. Russo Rossi, Angela Minervini, Nicoletta Coccaro, Luisa Anelli, Giorgina Specchia, Francesco Albano, and Antonella Zagaria
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Cancer Research ,Myeloid ,Myeloid leukemia ,Hematology ,Disease ,Biology ,Pathogenesis ,medicine.anatomical_structure ,Oncology ,hemic and lymphatic diseases ,Gene expression ,Immunology ,medicine ,Cancer research ,Coding region ,Haploinsufficiency ,Gene - Abstract
Recently it has been demonstrated that ten-eleven-translocation-2 (TET2) gene alterations may represent a crucial event in the pathogenesis of various myeloid malignancies. To date, the loss of TET2 function has been solely ascribed to mutations in the gene coding region. In this study, we report a chronic myeloid leukemia (CML) case showing a TET2 single copy partial deletion associated to a t(4;6;11) rearrangement, appearing during the progression of the disease and responsible for a decreased TET2 gene expression. A putative role for TET2 haploinsufficiency in this patient's CML progression is discussed.
- Published
- 2011
11. 136 ROLE OF THE TRANSCRIPTION FACTOR CTCF IN THE PATHOGENESIS OF MYELODYSPLASTIC SYNDROMES
- Author
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Crescenzio Francesco Minervini, Nicoletta Coccaro, Paola Orsini, Angelo Cellamare, Alessandra Ricco, Paola Casieri, Angela Minervini, Giuseppina Tota, Antonella Zagaria, Luisa Anelli, Claudia Brunetti, Giorgina Specchia, Francesco Albano, Luciana Impera, and Cosimo Cumbo
- Subjects
Pathogenesis ,Cancer Research ,Oncology ,CTCF ,business.industry ,Myelodysplastic syndromes ,Cancer research ,medicine ,Hematology ,medicine.disease ,business ,Transcription factor - Published
- 2015
12. Myelodysplastic syndrome with 5q deletion following IgM monoclonal gammopathy, showing gene mutation MYD88 L265P
- Author
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Alessandra Ricco, Antonella Zagaria, Crescenzio Francesco Minervini, Angela Minervini, Francesco Albano, Giorgina Specchia, Cosimo Cumbo, Paola Casieri, Nicoletta Coccaro, Giuseppina Tota, Luisa Anelli, Angelo Cellamare, Claudia Brunetti, and Paola Orsini
- Subjects
Population ,Mutation, Missense ,Paraproteinemias ,Gene mutation ,immune system diseases ,hemic and lymphatic diseases ,medicine ,Humans ,cardiovascular diseases ,education ,Molecular Biology ,Pathological ,Aged ,education.field_of_study ,biology ,business.industry ,Myelodysplastic syndromes ,Cell Biology ,Hematology ,medicine.disease ,IgM Monoclonal Gammopathy ,Amino Acid Substitution ,Immunoglobulin M ,Myelodysplastic Syndromes ,Myeloid Differentiation Factor 88 ,Immunology ,Mutation (genetic algorithm) ,Cancer research ,biology.protein ,Chromosomes, Human, Pair 5 ,Molecular Medicine ,Female ,Chromosome Deletion ,business ,Monoclonal gammopathy of undetermined significance - Abstract
Patients affected by monoclonal gammopathy of undetermined significance (MGUS) very rarely develop a myelodysplastic syndrome (MDS). However, it was also demonstrated that MGUS patients had a significantly increased risk of developing MDS compared to the general population. We report a case of 5q-syndrome following a MGUS IgMk with mutation of MYD88 L256P. To our knowledge, this is the first case of del(5q) MDS following MGUS IgMk with the MYD88 L256P mutation in which there is coexistence of the markers of the two clonal diseases, but as an expression of distinct pathological features.
- Published
- 2015
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