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Start Over Author "Ilari A." Journal british journal of haematology
18 results on '"Ilari A."'

1. Spontaneous regression in chronic lymphocytic leukaemia. Clinical features of 50 cases from the ERIC registry and review of the literature

Author

Del Giudice, Ilaria, primary, Cappelli, Luca Vincenzo, additional, Delgado, Julio, additional, Niemann, Carsten Utoft, additional, Andersen, Michael Asger, additional, Rotbain, Emelie Hamotal Curovic, additional, Aarup, Kathrine, additional, Walewska, Renata, additional, Visentin, Andrea, additional, Deodato, Marina, additional, Frustaci, Anna Maria, additional, Cavalloni, Chiara, additional, Gentile, Massimo, additional, Yassin, Mohamed A., additional, Lad, Deepesh, additional, Scarfò, Lydia, additional, Flogegard, Max, additional, Mattsson, Mattias, additional, Raponi, Sara, additional, Ilari, Caterina, additional, Starza, Irene Della, additional, Orlandi, Ester M., additional, Tedeschi, Alessandra, additional, Trentin, Livio, additional, Semenzato, Gianpietro, additional, Guarini, Anna, additional, Ghia, Paolo, additional, Montserrat, Emili, additional, and Foà, Robin, additional

Published
2023
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2. Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients.

Author

Rigolin, Gian Matteo, Traversa, Alice, Caputo, Viviana, Del Giudice, Ilaria, Bardi, Antonella, Saccenti, Elena, Raponi, Sara, Ilari, Caterina, Cafforio, Luciana, Giovannetti, Agnese, Pizzuti, Antonio, Guarini, Anna, Foà, Robin, and Cuneo, Antonio

Subjects
LYMPHOCYTIC leukemia, FLUORESCENCE in situ hybridization, CHRONIC leukemia, CHRONIC lymphocytic leukemia
Abstract

Summary: We explored the relevance of genomic microarrays (GM) in the refinement of prognosis in newly diagnosed low‐risk chronic lymphocytic leukaemia (CLL) patients as defined by isolated del(13q) or no lesions by a standard 4 probe fluorescence in situ hybridization (FISH) analysis. Compared to FISH, additional lesions were detected by GM in 27 of the 119 patients (22.7%). The concordance rate between FISH and GM was 87.4%. Discordant results between cytogenetic banding analysis (CBA) and GM were observed in 45/119 cases (37.8%) and were mainly due to the intrinsic characteristics of each technique. The presence of additional lesions by GM was associated with age > 65 years (p = 0.047), advanced Binet stage (p = 0.001), CLL‐IPI score (p < 0.001), a complex karyotype (p = 0.004) and a worse time‐to‐first treatment in multivariate analysis (p = 0.009). Additional lesions by GM were also significantly associated with a worse time‐to‐first treatment in the subset of patients with wild‐type TP53 and mutated IGHV (p = 0.025). In CLL patients with low‐risk features, the presence of additional lesions identified by GM helps to identify a subset of patients with a worse outcome that could be proposed for a risk‐adapted follow‐up and for early treatment including targeted agents within clinical trials. [ABSTRACT FROM AUTHOR]

Published
2023
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3. Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments

Author

Del Giudice, Ilaria, Marinelli, Marilisa, Wang, Jiguang, Bonina, Silvia, Messina, Monica, Chiaretti, Sabina, Ilari, Caterina, Cafforio, Luciana, Raponi, Sara, Mauro, Francesca R., Di Maio, Valeria, De Propris, Maria S., Nanni, Mauro, Ciardullo, Carmela, Rossi, Davide, Gaidano, Gianluca, Guarini, Anna, Rabadan, Raul, and Foà, Robin

Published
2016
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5. Redefining the prognostic likelihood of chronic lymphocytic leukaemia patients with borderline percentage of immunoglobulin variable heavy chain region mutations

Author

Raponi, Sara, primary, Ilari, Caterina, additional, Della Starza, Irene, additional, Cappelli, Luca V., additional, Cafforio, Luciana, additional, Piciocchi, Alfonso, additional, Arena, Valentina, additional, Mariglia, Paola, additional, Mauro, Francesca R., additional, Gentile, Massimo, additional, Cutrona, Giovanna, additional, Moia, Riccardo, additional, Favini, Chiara, additional, Morabito, Fortunato, additional, Rossi, Davide, additional, Gaidano, Gianluca, additional, Guarini, Anna, additional, Del Giudice, Ilaria, additional, and Foà, Robin, additional

Published
2020
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6. Unravelling the suboptimal response of TP53-mutated chronic lymphocytic leukaemia to ibrutinib

Author

Nadia Peragine, Luciana Cafforio, Robin Foà, Ilaria Del Giudice, Francesca Romana Mauro, Marilisa Marinelli, Silvia Bonina, Caterina Ilari, Paola Mariglia, Sara Raponi, Gianluca Gaidano, Anna Guarini, and Monica Messina

Subjects
Male, endocrine system diseases, Apoptosis, chemistry.chemical_compound, 0302 clinical medicine, Piperidines, hemic and lymphatic diseases, Gene expression, Receptor, Aged, 80 and over, Sulfonamides, biology, BCL2 inhibitor, BTK inhibitor, TP53 mutation, breakpoint cluster region, Hematology, Middle Aged, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Ibrutinib, Female, Adult, Cell Survival, Down-Regulation, Receptors, Antigen, B-Cell, 03 medical and health sciences, stomatognathic system, Bruton's tyrosine kinase, Humans, neoplasms, Aged, Cell Proliferation, CLL, BCR activity, Venetoclax, Adenine, Bridged Bicyclo Compounds, Heterocyclic, Leukemia, Lymphocytic, Chronic, B-Cell, In vitro, Pyrimidines, chemistry, Mutation, biology.protein, Cancer research, Pyrazoles, Tumor Suppressor Protein p53, 030215 immunology
Abstract

TP53-disrupted chronic lymphocytic leukaemia (CLL) patients show a suboptimal long-term response to ibrutinib. We hereby report that ibrutinib-induced in vitro apoptosis and proliferation inhibition were significantly lower in TP53-mutated (TP53-M) CLL cells compared to TP53 wild-type cells. Contrariwise, venetoclax effectively killed TP53-M cells. Gene expression profile analysis of TP53-M cells revealed a downmodulation of B-cell receptor (BCR)-related genes and an upmodulation of genes with anti-apoptotic/pro-survival activity, suggesting that the survival and proliferation of TP53-M cells are less dependent on the BCR pathway. These observations further support the use of drug combinations for the optimal management of TP53-M CLL patients.

Published
2018

7. In chronic lymphocytic leukaemia with complex karyotype, major structural abnormalities identify a subset of patients with inferior outcome and distinct biological characteristics

Author

Laura Bonaldi, Antonio Cuneo, Gian Matteo Rigolin, Livio Trentin, Cristian Bassi, Luca Formigaro, Francesca Maria Quaglia, Francesca Romana Mauro, Caterina Ilari, Elisa Tammiso, Francesco Cavazzini, Gianpietro Semenzato, Luciana Cafforio, Robin Foà, Barbara Zagatti, Antonio Urso, Andrea Visentin, Aurora Melandri, Enrico Lista, Laura Lupini, Emanuele Guardalben, Eleonora Volta, Massimo Negrini, Elena Saccenti, Maurizio Cavallari, and Maria Antonella Bardi

Subjects
Oncology, Male, chronic lymphocytic leukaemia, complex karyotype, gene expression profile, overall survival, time to first treatment, medicine.medical_specialty, Multivariate analysis, Mrna expression, Clone (cell biology), Disease-Free Survival, NO, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Complex Karyotype, Overall survival, Medicine, Humans, RNA, Messenger, RNA, Neoplasm, Aged, Hematology, Chromosome Aberrations, Lymphocytic leukaemia, business.industry, Gene Expression Regulation, Leukemic, Time to first treatment, Chromosome, Middle Aged, Leukemia, Lymphocytic, Chronic, B-Cell, Survival Rate, 030220 oncology & carcinogenesis, Female, business, 030215 immunology
Abstract

Complex karyotype (CK) is a negative prognostic factor in chronic lymphocytic leukaemia (CLL). However, CK is a heterogeneous cytogenetic category. Unbalanced rearrangements were present in 73·3% of 90 CLL patients with CK (i.e. ≥3 chromosome aberrations in the same clone), and were associated with a shorter overall survival (P = 0·025) and a shorter time to first treatment (P = 0·043) by multivariate analysis. Patients with unbalanced rearrangements presented a distinct mRNA expression profile. In conclusion, CLL patients with unbalanced rearrangements might represent a subset of very high-risk CLL patients with distinct clinical and biological characteristics.

Published
2017

8. Unravelling the suboptimal response ofTP53-mutated chronic lymphocytic leukaemia to ibrutinib

Author

Guarini, Anna, primary, Peragine, Nadia, additional, Messina, Monica, additional, Marinelli, Marilisa, additional, Ilari, Caterina, additional, Cafforio, Luciana, additional, Raponi, Sara, additional, Bonina, Silvia, additional, Mariglia, Paola, additional, Mauro, Francesca R., additional, Gaidano, Gianluca, additional, Del Giudice, Ilaria, additional, and Foà, Robin, additional

Published
2018
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9. BiallelicBIRC 3inactivation in chronic lymphocytic leukaemia patients with 11q deletion identifies a subgroup with very aggressive disease

Author

Raponi, Sara, primary, Del Giudice, Ilaria, additional, Ilari, Caterina, additional, Cafforio, Luciana, additional, Messina, Monica, additional, Cappelli, Luca V., additional, Bonina, Silvia, additional, Piciocchi, Alfonso, additional, Marinelli, Marilisa, additional, Peragine, Nadia, additional, Mariglia, Paola, additional, Mauro, Francesca R., additional, Rigolin, Gian M., additional, Rossi, Francesca, additional, Bomben, Riccardo, additional, Dal Bo, Michele, additional, Del Poeta, Giovanni, additional, Diop, Fary, additional, Favini, Chiara, additional, Rossi, Davide, additional, Gaidano, Gianluca, additional, Cuneo, Antonio, additional, Gattei, Valter, additional, Guarini, Anna, additional, and Foá, Robin, additional

Published
2018
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10. In chronic lymphocytic leukaemia with complex karyotype, major structural abnormalities identify a subset of patients with inferior outcome and distinct biological characteristics

Author

Rigolin, Gian Matteo, primary, Saccenti, Elena, additional, Guardalben, Emanuele, additional, Cavallari, Maurizio, additional, Formigaro, Luca, additional, Zagatti, Barbara, additional, Visentin, Andrea, additional, Mauro, Francesca R., additional, Lista, Enrico, additional, Bassi, Cristian, additional, Lupini, Laura, additional, Quaglia, Francesca Maria, additional, Urso, Antonio, additional, Bardi, Maria Antonella, additional, Bonaldi, Laura, additional, Volta, Eleonora, additional, Tammiso, Elisa, additional, Ilari, Caterina, additional, Cafforio, Luciana, additional, Melandri, Aurora, additional, Cavazzini, Francesco, additional, Negrini, Massimo, additional, Semenzato, Gianpietro, additional, Trentin, Livio, additional, Foà, Robin, additional, and Cuneo, Antonio, additional

Published
2018
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11. Whole-genome amplification for the detection of molecular targets and minimal residual disease monitoring in acute lymphoblastic leukaemia

Author

Alina Delia Negulici, Lucia Anna De Novi, Marilisa Marinelli, Sabina Chiaretti, Antonella Vitale, Irene Della Starza, Ilaria Del Giudice, Anna Guarini, Caterina Ilari, Robin Foà, and Vittorio Nunes

Subjects
Adult, Male, Neoplasm, Residual, acute lymphoblastic leukaemia, Adolescent, Receptors, Antigen, T-Cell, Biology, Real-Time Polymerase Chain Reaction, Germline, Young Adult, chemistry.chemical_compound, quantitative pcr, hemic and lymphatic diseases, Humans, Whole Genome Amplification, Genes, Immunoglobulin, Genome, Human, immunoglobulin gene rearrangement, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, whole-genome amplification, Minimal residual disease, Molecular biology, genomic DNA, Real-time polymerase chain reaction, minimal residual disease, chemistry, Female, Nucleic Acid Amplification Techniques, J-segment, Quantitative analysis (chemistry), DNA
Abstract

Accurate genomic characterization requires sufficient amounts of optimal quality DNA. An approach for increasing the DNA amount is the whole-genome amplification (WGA) method. We applied WGA to the molecular quantification and minimal residual disease (MRD) evaluation of acute lymphoblastic leukaemia (ALL), aiming to compare the results obtained from genomic DNA and amplified DNA with WGA, and to evaluate the applicability and the reliability of WGA-DNA. Twenty paired samples from adult ALL patients were sequenced to identify the functional germline V-D-J segment at diagnosis; real-time quantitative polymerase chain reaction (RQ-PCR) quantitative analysis was performed both at diagnosis and follow-up. Genomic DNA and WGA-DNA screening identified equivalent 87 rearrangements. At diagnosis, the quantitative evaluation of genomic DNA samples showed 1 logarithm difference to WGA-DNA samples; these levels are comparable, being within the degree of acceptability and confidence. In the follow-up samples, RQ-PCR analysis on genomic DNA and WGA showed concordant MRD results in 16/18 samples, while 2/18 were MRD-positive outside the quantitative range by RQ-PCR (i.e.

Published
2014
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12. Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments

Author

Caterina Ilari, Davide Rossi, Francesca Romana Mauro, Silvia Bonina, Ilaria Del Giudice, Carmela Ciardullo, Anna Guarini, Sara Raponi, Maria Stefania De Propris, Luciana Cafforio, Sabina Chiaretti, Marilisa Marinelli, Jiguang Wang, Valeria Di Maio, Robin Foà, Gianluca Gaidano, Monica Messina, Raul Rabadan, and Mauro Nanni

Subjects
0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Somatic cell, Biopsy, Biology, medicine.disease_cause, Somatic evolution in cancer, Clonal Evolution, 03 medical and health sciences, Recurrence, medicine, Humans, Exome, Lymph node, Exome sequencing, Aged, Mutation, medicine.diagnostic_test, Hematology, DNA, Neoplasm, Middle Aged, Leukemia, Lymphocytic, Chronic, B-Cell, 030104 developmental biology, medicine.anatomical_structure, Neoplastic Stem Cells, Female, Lymph, Lymph Nodes
Abstract

Whole exome sequencing and copy number aberration (CNA) analysis were performed on cells taken from peripheral blood (PB) and lymph nodes (LN) of patients with chronic lymphocytic leukaemia (CLL). Of 64 non-silent somatic mutations, 54 (84·4%) were clonal in both compartments, 3 (4·7%) were PB-specific and 7 (10·9%) were LN-specific. Most of the LN- or PB-specific mutations were subclonal in the other corresponding compartment (variant frequency 0·5-5·3%). Of 41 CNAs, 27 (65·8%) were shared by both compartments and 7 (17·1%) were LN- or PB-specific. Overall, 6 of 9 cases (66·7%) showed genomic differences between the compartments. At subsequent relapse, Case 10, with 6 LN-specific lesions, and Case 100, with 6 LN-specific and 8 PB-specific lesions, showed, in the PB, the clonal expansion of LN-derived lesions with an adverse impact: SF3B1 mutation, BIRC3 deletion, del8(p23·3-p11·1), del9(p24·3-p13·1) and gain 2(p25·3-p14). CLL shows an intra-patient clonal heterogeneity according to the disease compartment, with both LN and PB-specific mutations/CNAs. The LN microenvironment might contribute to the clonal selection of unfavourable lesions, as LN-derived mutations/CNAs can appear in the PB at relapse.

Published
2015

13. Biallelic BIRC3 inactivation in chronic lymphocytic leukaemia patients with 11q deletion identifies a subgroup with very aggressive disease.

Author

Raponi, Sara, Del Giudice, Ilaria, Ilari, Caterina, Cafforio, Luciana, Messina, Monica, Cappelli, Luca V., Bonina, Silvia, Piciocchi, Alfonso, Marinelli, Marilisa, Peragine, Nadia, Mariglia, Paola, Mauro, Francesca R., Rigolin, Gian M., Rossi, Francesca, Bomben, Riccardo, Dal Bo, Michele, Del Poeta, Giovanni, Diop, Fary, Favini, Chiara, and Rossi, Davide

Abstract

The article discusses the study which aimed to screen BIRC3 disruption by copy number aberration (CNA) and mutation analysis and to explore the clinical significance of BIRC3 deletions and/or mutations among 11q-chronic lymphocytic leukaemia (CLL) patients. It states that biallelic BIRC3 inactivation in CLL patients with 11q deletion identifies a subgroup with very aggressive disease.

Published
2019
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14. Comparative analysis between RQ-PCR and digital-droplet-PCR of immunoglobulin/T-cell receptor gene rearrangements to monitor minimal residual disease in acute lymphoblastic leukaemia

Author

Della Starza, Irene, primary, Nunes, Vittorio, additional, Cavalli, Marzia, additional, De Novi, Lucia Anna, additional, Ilari, Caterina, additional, Apicella, Valerio, additional, Vitale, Antonella, additional, Testi, Anna Maria, additional, Del Giudice, Ilaria, additional, Chiaretti, Sabina, additional, Foà, Robin, additional, and Guarini, Anna, additional

Published
2016
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15. Unravelling the suboptimal response of TP53‐mutated chronic lymphocytic leukaemia to ibrutinib.

Author

Guarini, Anna, Peragine, Nadia, Messina, Monica, Marinelli, Marilisa, Ilari, Caterina, Cafforio, Luciana, Raponi, Sara, Bonina, Silvia, Mariglia, Paola, Mauro, Francesca R., Gaidano, Gianluca, Del Giudice, Ilaria, and Foà, Robin

Abstract

Summary: TP53‐disrupted chronic lymphocytic leukaemia (CLL) patients show a suboptimal long‐term response to ibrutinib. We hereby report that ibrutinib‐induced in vitro apoptosis and proliferation inhibition were significantly lower in TP53‐mutated (TP53‐M) CLL cells compared to TP53 wild‐type cells. Contrariwise, venetoclax effectively killed TP53‐M cells. Gene expression profile analysis of TP53‐M cells revealed a downmodulation of B‐cell receptor (BCR)‐related genes and an upmodulation of genes with anti‐apoptotic/pro‐survival activity, suggesting that the survival and proliferation of TP53‐M cells are less dependent on the BCR pathway. These observations further support the use of drug combinations for the optimal management of TP53‐M CLL patients. [ABSTRACT FROM AUTHOR]

Published
2019
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16. Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments

Author

Del Giudice, Ilaria, primary, Marinelli, Marilisa, additional, Wang, Jiguang, additional, Bonina, Silvia, additional, Messina, Monica, additional, Chiaretti, Sabina, additional, Ilari, Caterina, additional, Cafforio, Luciana, additional, Raponi, Sara, additional, Mauro, Francesca R., additional, Di Maio, Valeria, additional, De Propris, Maria S., additional, Nanni, Mauro, additional, Ciardullo, Carmela, additional, Rossi, Davide, additional, Gaidano, Gianluca, additional, Guarini, Anna, additional, Rabadan, Raul, additional, and Foà, Robin, additional

Published
2015
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17. A case of concomitant chronic lymphocytic leukaemia and hairy cell leukaemia evaluated forIGHV-D-Jrearrangements andBRAF-V600E mutation: lack of evidence for a common origin

Author

Cavalli, Marzia, primary, Ilari, Caterina, additional, Del Giudice, Ilaria, additional, Marinelli, Marilisa, additional, Della Starza, Irene, additional, De Propris, Maria Stefania, additional, De Novi, Lucia Anna, additional, Nunes, Vittorio, additional, Cafforio, Luciana, additional, Raponi, Sara, additional, Mancini, Francesca, additional, Mauro, Francesca Romana, additional, Tiacci, Enrico, additional, Falini, Brunangelo, additional, Guarini, Anna, additional, and Foà, Robin, additional

Published
2015
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18. A case of concomitant chronic lymphocytic leukaemia and hairy cell leukaemia evaluated for IGHV-D-J rearrangements and BRAF-V600E mutation: lack of evidence for a common origin.

Author

Cavalli, Marzia, Ilari, Caterina, Del Giudice, Ilaria, Marinelli, Marilisa, Della Starza, Irene, De Propris, Maria Stefania, De Novi, Lucia Anna, Nunes, Vittorio, Cafforio, Luciana, Raponi, Sara, Mancini, Francesca, Mauro, Francesca Romana, Tiacci, Enrico, Falini, Brunangelo, Guarini, Anna, and Foà, Robin

Subjects
*LEUKEMIA, *LYMPHOCYTIC leukemia, *HEMATOLOGIC malignancies, *LEUCOCYTOSIS, *PRELEUKEMIA
Abstract

The article presents a case of a 59-year-old man who developed a hairy cell leukaemia (HCL) during the course of chronic lymphocytic leukaemia (CLL). In the case, concomitant chronic lymphocytic leukaemia and hairy cell leukaemia evaluated for immunoglobulin heavy chain gene (IGHV-D-J) rearrangements and BRAF-V600E mutation.

Published
2016
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