Luciana Cafforio

PhD Graduate

PhD program:: XXXIV

Thesis title: NEXT GENERATION SEQUENCING TECHNOLOGIES TO EXPLORE THE LANDSCAPE OF MUTATIONS AND CNVs OF CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS TREATED WITH NOVEL TARGET THERAPIES IBRUTINIB AND VENETOCLAX

Chronic lymphocytic leukemia (CLL) is characterized by a heterogeneous clinical course, ranging from extremely indolent cases to rapidly progressive forms requiring prompt treatment intervention. The diverse clinical course at the individual level is determined by the immunogenetic and molecular heterogeneity of the disease. During the past 10 years, innovations in molecular genetic technologies have allowed to understand the biological heterogeneity of CLL, the pathogenesis and clonal evolution of the disease, the mechanisms of resistance to chemotherapy as well as to novel targeted therapies. We applied Next Generation Sequencing (NGS) technologies to explore the genetic landscape of CLL patients treated with the novel drugs ibrutinib and venetoclax. In the first project, we investigated the dynamics of major and minor TP53 mutations under ibrutinib treatment performing a longitudinal TP53 monitoring by deep-sequencing, both in treatment naïve and relapse/refractory CLL patients. Ibrutinib, in any line of therapy, decreases the TP53 complexity and it does not exert a positive selective pressure on TP53 mutated clones, unlike chemo-immunotherapy. In the second project, we analyzed the mutational profile of a cohort of treatment naïve high risk CLL patients candidate to venetoclax treatment using a targeted NGS panel of 25 genes with a prognostic/predictive role in CLL. In addition, we used the same sequencing raw data to infer copy number variations (CNVs) with a novel bioinformatic approach. Given the crucial role of genomic complexity as predictive marker of response to therapy in CLL, inferring both mutations and CNVs from a single NGS run represents a timely and cost-effective method for a more comprehensive genomic characterization, in order to identify potential predictive genetic markers of venetoclax efficacy.

Research products

11573/1685519 - 2023 - Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients

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; Cuneo, Antonio - 01a Articolo in rivista

paper: BRITISH JOURNAL OF HAEMATOLOGY (Oxford]: [Blackwell Science].) pp. - - issn: 1365-2141 - wos: WOS:001019742800001 (2) - scopus: 2-s2.0-85163011556 (2)

11573/1612335 - 2022 - Treatment with ibrutinib does not induce a TP53 clonal evolution in chronic lymphocytic leukemia

Cafforio, L.; Raponi, S.; Cappelli, L. V.; Ilari, C.; Soscia, R.; De Propris, M. S.; Mariglia, P.; Rigolin, G. M.; Bardi, A.; Peragine, N.; Piciocchi, A.; Arena, V.; Mauro, F. R.; Cuneo, A.; Guarini, A.; Foa, R.; Del Giudice, I. - 01f Lettera, Nota

paper: HAEMATOLOGICA (Fondaz Ferrata Storti:Strada Nuova 134, 27100 Pavia Italy:011 39 0382 531182, EMAIL: office@haematologica.it, Fax: 011 39 0382 27721) pp. 334-337 - issn: 0390-6078 - wos: WOS:000740550800040 (5) - scopus: 2-s2.0-85122302940 (6)

11573/1612337 - 2021 - Complex karyotype in unfit patients with CLL treated with ibrutinib and rituximab: the GIMEMA LLC1114 phase 2 study

Rigolin, G. M.; Del Giudice, I.; Bardi, A.; Melandri, A.; Garcia-Jacobo, R. E.; Cura, F.; Raponi, S.; Ilari, C.; Cafforio, L.; Piciocchi, A.; Arena, V.; Reda, G.; Albano, F.; Molica, S.; Sportoletti, P.; Trentin, L.; Marchetti, M.; Nanni, M.; Peragine, N.; Mariglia, P.; Vignetti, M.; Guarini, A.; Mauro, F. R.; Foa, R.; Cuneo, A. - 01a Articolo in rivista

paper: BLOOD (New York: Elsevier Inc. [Washington DC etc.]: American Society of Hematology) pp. 2727-2730 - issn: 0006-4971 - wos: WOS:000750572700005 (2) - scopus: 2-s2.0-85121444168 (2)

11573/1414755 - 2020 - Philadelphia-like acute lymphoblastic leukemia is associated with minimal residual disease persistence and poor outcome. First report of the minimale residual disease-oriented GIMEMA LAL1913

Chiaretti, S.; Messina, M.; Della Sarza, I.; Piciocchi, A.; Cafforio, L.; Cavalli, M.; Taherinasab, A.; Ansuinelli, M.; Elia, L.; Albertini Petroni, G.; La Starza, R.; Canichella, M.; Lauretti, A.; Puzzolo, Mc.; Pierini, V.; Santoro, A.; Spinelli, O.; Apicella, V.; Capria, S.; Di Raimondo, F.; De Fabritiis, P.; Papayannidis, C.; Candoni, A.; Cairoli, R.; Cerrano, M.; Fracchiolla, N.; Mattei, D.; Cattaneo, C.; Vitale, A.; Crea, E.; Fazi, P.; Mecucci, C.; Rambaldi, A.; Guarini, A.; Bassan, R.; Foà, R. - 01a Articolo in rivista

paper: HAEMATOLOGICA (Fondaz Ferrata Storti:Strada Nuova 134, 27100 Pavia Italy:011 39 0382 531182, EMAIL: office@haematologica.it, Fax: 011 39 0382 27721) pp. 1-42 - issn: 0390-6078 - wos: WOS:000661459000005 (51) - scopus: 2-s2.0-85107391012 (50)

11573/1613241 - 2020 - COMPLEX KARYOTYPE AFTER IBRUTINIB AND RITUXIMAB AS FRONT-LINE TREATMENT OF UNFIT PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA (GIMEMA LLC1114)

Del Giudice, I.; Rigolin, G. M.; Bardi, A.; Melandri, A.; Cavallari, M.; Raponi, S.; Ilari, C.; Cafforio, L.; Piciocchi, A.; Arena, V.; Fabri, S.; Albano, F.; Nanni, M.; Molica, S.; Reda, G.; Sportoletti, M.; Trentin, L.; Marchetti, M.; Peragine, N.; Mariglia, P.; Vignetti, M.; Mauro, F. R.; Guarini, A; Foà, R.; Cuneo, A. - 04d Abstract in atti di convegno

conference: SIES/SIE (Società Italiana Ematologia Sperimentale/Società Italiana Ematologia), Milano, 24-27 ottobre 2021 (Milano)

book: Haematologica, 2020; 105(s2):s28 - ()

11573/1613240 - 2020 - COMPLEX KARYOTYPE IS ASSOCIATED WITH A LESS FAVORABLE OUTCOME AFTER IBRUTINIB AND RITUXIMAB AS FRONT-LINE TREATMENT OF UNFIT PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA (GIMEMA LLC1114).

Del, Giudice; Rigolin, G. M.; Bardi, A.; Melandri, A.; Cavallari, M.; Raponi, S.; Ilari, C.; Cafforio, L.; Piciocchi, A.; Arena, V.; Fabris, S.; Albano, F.; Nanni, M.; Molica, S.; Reda, G.; Sportoletti, P.; Trentin, L.; Marchetti, M.; Peragine, N.; Mariglia, P.; Vignetti, M.; Mauro, F. R.; Guarini, A.; Foà, R.; A. Cuneo., - 04d Abstract in atti di convegno

conference: Congresso EHA (European Haematology Association) Virtual Edition, June 2020 (Virtual edition)

book: HemaSphere 2020; 4 (S1) p 290 - ()

11573/1411175 - 2020 - Redefining the prognostic likelihood of chronic lymphocytic leukaemia patients with borderline percentage of immunoglobulin variable heavy chain region mutations

Raponi, S.; Ilari, C.; Della Starza, I.; Cappelli, L. V.; Cafforio, L.; Piciocchi, A.; Arena, V.; Mariglia, P.; Mauro, F. R.; Gentile, M.; Cutrona, G.; Moia, R.; Favini, C.; Morabito, F.; Rossi, D.; Gaidano, G.; Guarini, A.; Del Giudice, I.; Foa, R. - 01a Articolo in rivista

paper: BRITISH JOURNAL OF HAEMATOLOGY (British Society for Haematology and John Wiley & Sons Ltd Oxford: Blackwell, 1955-) pp. 853-859 - issn: 0007-1048 - wos: WOS:000537904500023 (17) - scopus: 2-s2.0-85079710757 (16)

11573/1613235 - 2019 - TP53 CLONAL AND SUBCLONAL ARCHITECTURE IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS UNDER IBRUTINIB TREATMENT.

Cafforio, L.; Cappelli, L. V.; Del Giudice, I.; Ilari, C.; Raponi, S.; De Propris, M. S.; Mariglia, P.; Mauro, F. R.; Piciocchi, A.; Giuliani, G.; Vignetti, M.; Guarini, A.; Foà., R. - 04d Abstract in atti di convegno

conference: EHA (European Haematology Association), Amsterdam, 13-16 giugno 2019 (Amsterdam)

book: HemaSphere - ()

11573/1613236 - 2019 - IBRUTINIB TREATMENT DOESN’T INDUCE TP53 CLONAL EVOLUTION IN CHRONIC LYMPHOCYTIC LEUKEMIA.

Cafforio, L.; Cappelli, L. V.; Del Giudice, I.; Ilari, C.; Raponi, S.; De Propris, M. S.; Mariglia, P.; Piciocchi, A.; Arena, V.; Vignetti, M.; Mauro, F. R.; Guarini, A.; Foà., R. - 04d Abstract in atti di convegno

conference: Congresso SIE (Società Italiana Ematologia) Roma, 7-9 ottobre 2019 (Roma)

book: Haematologica 2019; 104(s2):1 - ()

11573/1412560 - 2019 - Minimal Residual Disease in Chronic Lymphocytic Leukemia: A New Goal?

Del Giudice, I.; Raponi, S.; Della Starza, I.; De Propris, M. S.; Cavalli, M.; De Novi, L. A.; Cappelli, L. V.; Ilari, C.; Cafforio, L.; Guarini, A.; Foa, R. - 01a Articolo in rivista

paper: FRONTIERS IN ONCOLOGY (Lausanne : Frontiers Editorial Office, 2011-) pp. 689- - issn: 2234-943X - wos: WOS:000483023100001 (42) - scopus: 2-s2.0-85072725891 (43)

11573/1613234 - 2018 - TP53 CLONAL AND SUBCLONAL ARCHITECTURE IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS UNDER IMMUNOCHEMOTHERAPY AND IBRUTINIB.

Cafforio, L.; Cappelli, L. V.; Del Giudice, I.; Ilari, C.; Raponi, S.; Mariglia, P.; De Propris, M. S.; Filetti, M.; Mauro, F. R.; Foà, R.; Guarini., A. - 04d Abstract in atti di convegno

conference: SIES (Società Italiana Ematologia Sperimentale), Rimini 18-20 ottobre 2018 (Rimini)

book: Haematologica, 2018; 103 (s3): s27 - ()

11573/1085866 - 2018 - Refined karyotype-based prognostic stratification of chronic lymphocytic leukemia with a low- and very-low-risk genetic profile

Del Giudice, I.; Rigolin, G. M.; Raponi, S.; Cafforio, L.; Ilari, C.; Wang, J.; Bordyuh, M.; Piciocchi, A.; Marinelli, M.; Nanni, M.; Tavolaro, S.; Filetti, Marco; Bardi, A.; Tammiso, E.; Volta, E.; Negrini, M.; Saccenti, E.; Mauro, F. R.; Rossi, D.; Gaidano, G.; Guarini, A.; Rabadan, R.; Cuneo, A.; Foà, R. - 01a Articolo in rivista

paper: LEUKEMIA (-, LONDON, ENGLAND: NATURE PUBLISHING GROUP, -London,United Kingdom: Macmillan Magazines Limited -[Baltimore, Md.] : Williams & Wilkins, [c1987]-) pp. 543-546 - issn: 0887-6924 - wos: WOS:000424517300032 (2) - scopus: 2-s2.0-85042327696 (3)

11573/1177269 - 2018 - Unravelling the suboptimal response of TP53-mutated chronic lymphocytic leukaemia to ibrutinib

Guarini, A; Peragine, N; Messina, M; Marinelli, M; Ilari, C; Cafforio, L; Raponi, S; Bonina, S; Mariglia, P; Mauro, Fr; Gaidano, G; Del Giudice, I; Foà, R - 01a Articolo in rivista

paper: BRITISH JOURNAL OF HAEMATOLOGY (British Society for Haematology and John Wiley & Sons Ltd Oxford: Blackwell, 1955-) pp. - - issn: 0007-1048 - wos: WOS:000456167900010 (8) - scopus: 2-s2.0-85055283083 (8)

11573/1118308 - 2018 - Biallelic BIRC3 inactivation in chronic lymphocytic leukaemia patients with 11q deletion identifies a subgroup with very aggressive disease.

Raponi, S; Del Giudice, I; Ilari, C; Cafforio, Luciana; Messina, M; Cappelli, Lv; Bonina, S; Piciocchi, A; Marinelli, M; Peragine, N; Mariglia, P; Mauro, Fr; Rigolin, Gm; Rossi, F; Bomben, R; Dal Bo, M; Del Poeta, G; Diop, F; Favini, C; Rossi, D; Gaidano, G; Cuneo, A; Gattei, V; Guarini, A; Foá, R. - 01f Lettera, Nota

paper: BRITISH JOURNAL OF HAEMATOLOGY (British Society for Haematology and John Wiley & Sons Ltd Oxford: Blackwell, 1955-) pp. - - issn: 0007-1048 - wos: WOS:000462346300024 (9) - scopus: 2-s2.0-85047565799 (9)

11573/1085838 - 2018 - Genetic Landscape of Ultra-Stable Chronic Lymphocytic Leukemia Patients

Raponi, S; Del Giudice, I; Marinelli, M; Wang, J; Cafforio, L; Ilari, C; Piciocchi, A; Messina, M; Bonina, S; Tavolaro, S; Bordyuh, M; Mariglia, P; Peragine, N; Mauro, F R; Chiaretti, S; Molica, S; Gentile, M; Visentin, A; Trentin, L; Rigolin, G M; Cuneo, A; Diop, F; Rossi, D; Gaidano, G; Guarini, A; Rabadan, R; Foà, R - 01a Articolo in rivista

paper: ANNALS OF ONCOLOGY (London; Dordrecht; Boston: Kluwer Academic Publishers) pp. 1-14 - issn: 0923-7534 - wos: WOS:000431140700030 (15) - scopus: 2-s2.0-85046674334 (14)

11573/1122069 - 2018 - In chronic lymphocytic leukaemia with complex karyotype, major structural abnormalities identify a subset of patients with inferior outcome and distinct biological characteristics

Rigolin, Gian Matteo; Saccenti, Elena; Guardalben, Emanuele; Cavallari, Maurizio; Formigaro, Luca; Zagatti, Barbara; Visentin, Andrea; Mauro, Francesca R.; Lista, Enrico; Bassi, Cristian; Lupini, Laura; Quaglia, Francesca Maria; Urso, Antonio; Bardi, Maria Antonella; Bonaldi, Laura; Volta, Eleonora; Tammiso, Elisa; Ilari, Caterina; Cafforio, Luciana; Melandri, Aurora; Cavazzini, Francesco; Negrini, Massimo; Semenzato, Gianpietro; Trentin, Livio; Foà, Robin; Cuneo, Antonio - 01a Articolo in rivista

paper: BRITISH JOURNAL OF HAEMATOLOGY (British Society for Haematology and John Wiley & Sons Ltd Oxford: Blackwell, 1955-) pp. 229-233 - issn: 0007-1048 - wos: WOS:000430101900009 (27) - scopus: 2-s2.0-85045233476 (28)

11573/956916 - 2017 - Clinicopathological features and outcome of chronic lymphocytic leukaemia in Chinese patients

Chan, Thomas Sau Yan; Lee, Yuh Shan; Del Giudice, Ilaria; Marinelli, Marilisa; Ilari, Caterina; Cafforio, Luciana; Guarini, Anna; Tan, Daryl; Phipps, Colin; Goh, Yeow Tee; Hwang, William; Goh, Allan Zhi Kai; Siu, Lisa Lai Ping; Wu, Saliangi; Ha, Chun Yin; Lin, Shek Ying; Kwok, Chi Hang; Lau, Chi Kuen; Wong, Kit Fai; Foa, Roberto; Kwong, Yok Lam; Tse, Eric - 01a Articolo in rivista

paper: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 25455-25468 - issn: 1949-2553 - wos: WOS:000399340300118 (8) - scopus: 2-s2.0-85017553485 (9)

11573/820507 - 2016 - 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

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; Foa, Roberto - 01a Articolo in rivista

paper: BRITISH JOURNAL OF HAEMATOLOGY (British Society for Haematology and John Wiley & Sons Ltd Oxford: Blackwell, 1955-) pp. 329-331 - issn: 0007-1048 - wos: WOS:000383773700018 (4) - scopus: 2-s2.0-84978112701 (4)

11573/835291 - 2016 - Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments

Del Giudice, Ilaria; Marinelli, Marilisa; Wang, Jiguang; Bonina, Silvia; Messina, Monica; Chiaretti, Sabina; Ilari, Caterina; Cafforio, Luciana; Raponi, Sara; Mauro, Francesca Romana; Di Maio, Valeria; De Propris, Maria S; Nanni, Mauro; Ciardullo, Carmela; Rossi, Davide; Gaidano, Gianluca; Guarini, Anna; Rabadan, Raul; Foa, Roberto - 01a Articolo in rivista

paper: BRITISH JOURNAL OF HAEMATOLOGY (British Society for Haematology and John Wiley & Sons Ltd Oxford: Blackwell, 1955-) pp. 371-383 - issn: 0007-1048 - wos: WOS:000369290100005 (18) - scopus: 2-s2.0-84955740448 (17)

11573/870544 - 2016 - Immunoglobulin gene rearrangements in Chinese and Italian patients with chronic lymphocytic leukemia

Marinelli, Marilisa; Ilari, Caterina; Xia, Yi; Del Giudice, Ilaria; Cafforio, Luciana; Della Starza, Irene; Raponi, Sara; Mariglia, Paola; Bonina, Silvia; Yu, Zhen; Yang, Wenjuan; Qiu, Lugui; Chan, Thomas; Piciocchi, Alfonso; Kwong, Yok Lam; Tse, Eric; Li, Jianyong; Guarini, Anna; Xu, Wei; Foa, Roberto - 01a Articolo in rivista

paper: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 20520-20531 - issn: 1949-2553 - wos: WOS:000375804000108 (37) - scopus: 2-s2.0-84964758544 (39)