Luciana Cafforio
Sapienza University of Rome
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Featured researches published by Luciana Cafforio.
British Journal of Haematology | 2016
Ilaria Del Giudice; Marilisa Marinelli; Jiguang Wang; Silvia Bonina; Monica Messina; Sabina Chiaretti; Caterina Ilari; Luciana Cafforio; Sara Raponi; Francesca Romana Mauro; Valeria Di Maio; Maria Stefania De Propris; Mauro Nanni; Carmela Ciardullo; Davide Rossi; Gianluca Gaidano; Anna Guarini; Raul Rabadan; Robin Foà
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.
Oncotarget | 2016
Marilisa Marinelli; Caterina Ilari; Yi Xia; Ilaria Del Giudice; Luciana Cafforio; Irene Della Starza; Sara Raponi; Paola Mariglia; Silvia Bonina; Zhen Yu; Wenjuan Yang; Lugui Qiu; Thomas Sau-Yan Chan; Alfonso Piciocchi; Yok-Lam Kwong; Eric Tse; Jianyong Li; Anna Guarini; Wei Xu; Robin Foà
Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in the Western world, whereas in Asia the incidence is about 10 times lower. The basis for this ethnic and geographic variation is currently unknown. The aim of this study was to characterize IGHVDJ rearrangements and stereotype of the HCDR3 region in a series of 623 Chinese CLL, in order to identify possible differences in immunoglobulin gene usage and their potential pathogenetic implications. Chinese CLL were compared to 789 Italian CLL. Chinese patients showed a higher proportion of mutated IGHV and a more frequent usage of IGHV3-7, IGHV3-74, IGHV4-39 and IGHV4-59 genes. A significantly lower usage of IGHV1-69 and IGHV1-2 was documented, with comparable IGHV3-21 frequency (3% Chinese vs 3.8% Italian CLL). The proportion of known stereotyped receptors was significantly lower in Chinese (19.7%) than in Italian CLL (25.8%), despite a significantly higher frequency of subset #8 (p= 0.0001). Moreover, new paired clusters were identified among Chinese cases. Overall, these data support a potential different antigenic exposure between Eastern and Western CLL.
British Journal of Haematology | 2016
Marzia Cavalli; Caterina Ilari; Ilaria Del Giudice; Marilisa Marinelli; Irene Della Starza; Maria Stefania De Propris; Lucia Anna De Novi; Vittorio Nunes; Luciana Cafforio; Sara Raponi; Francesca Mancini; Francesca Romana Mauro; Enrico Tiacci; Brunangelo Falini; Anna Guarini; Robin Foà
Keywords: chronic lymphocytic leukaemia ; hairy cell leukaemia; IGH ; BRAF V600E; quantitative PCR
Oncotarget | 2017
Thomas Sau-Yan Chan; Yuh-Shan Lee; Ilaria Del Giudice; Marilisa Marinelli; Caterina Ilari; Luciana Cafforio; Anna Guarini; Daryl Tan; Colin Phipps; Y.T. Goh; William L. Hwang; Allan Zhi-Kai Goh; Lisa Lai-Ping Siu; Saliangi Wu; Chun-Yin Ha; Shek-Ying Lin; Chi-Hang Kwok; Chi-Kuen Lau; Kit-Fai Wong; Robin Foà; Yok-Lam Kwong; Eric Tse
Chronic lymphocytic leukaemia (CLL) is uncommon in Chinese population and its biology, genetics and treatment outcome in Chinese patients have not been comprehensively investigated. In this study, we studied the clinicopathological features and outcome of 212 Chinese patients with newly diagnosed CLL in Hong Kong and Singapore. The median age at diagnosis was 64 years. The majority of patients presented with early-stage disease (Binet stage A, 56.1%). Del(13)(q14) was the most frequent abnormality (41.7%) detected by fluorescence in situ hybridization (FISH) analysis. Del(17p) and TP53 gene mutations were detected in 7.8% and 8.2% of patients, respectively. MYD88 mutations were found at a higher frequency (11.5%) than expected. CLL with unmutated variable region of the immunoglobulin heavy chain genes (IGHV) occurred in only 31.2% of cases, and was associated with advanced-stage disease (p <0.01) and adverse FISH abnormalities (p<0.01). With a median follow-up of 39 months, the median overall survival (OS) was 108 months. The presence of del(17p) or TP53 mutations was associated with a significantly shorter time to first treatment and an inferior OS (p <0.01). Unmutated IGHV was also associated with a significantly shorter time to treatment (p <0.01). Among patients who required treatment, the median OS and progression-free survival (PFS) were 107 and 23 months, respectively. The presence of del(17p) was associated with a significantly inferior OS and PFS (p <0.01). In summary, Chinese CLL patients had similar genetic aberrations at diagnosis compared with those of Western populations. FISH abnormalities are major factors affecting outcome.
Leukemia | 2018
I Del Giudice; Gian Matteo Rigolin; Sara Raponi; Luciana Cafforio; Caterina Ilari; Jiguang Wang; Mykola Bordyuh; Alfonso Piciocchi; Marilisa Marinelli; Mauro Nanni; Simona Tavolaro; M Filetti; Antonella Bardi; Elisa Tammiso; Eleonora Volta; Massimo Negrini; Elena Saccenti; Francesca Romana Mauro; Davide Rossi; G Gaidano; Anna Guarini; Raul Rabadan; Antonio Cuneo; R. Foa
Refined karyotype-based prognostic stratification of chronic lymphocytic leukemia with a low- and very-low-risk genetic profile
British Journal of Haematology | 2018
Anna Guarini; Nadia Peragine; Monica Messina; Marilisa Marinelli; Caterina Ilari; Luciana Cafforio; Sara Raponi; Silvia Bonina; Paola Mariglia; Francesca Romana Mauro; Gianluca Gaidano; Ilaria Del Giudice; Robin Foà
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.
British Journal of Haematology | 2018
Sara Raponi; Ilaria Del Giudice; Caterina Ilari; Luciana Cafforio; Monica Messina; Luca Vincenzo Cappelli; Silvia Bonina; Alfonso Piciocchi; Marilisa Marinelli; Nadia Peragine; Paola Mariglia; Francesca Romana Mauro; Gian M. Rigolin; Francesca Rossi; Riccardo Bomben; Michele Dal Bo; Giovanni Del Poeta; Fary Diop; Chiara Favini; Davide Rossi; Gianluca Gaidano; Antonio Cuneo; Valter Gattei; Anna Guarini; Robin Foà
Mason, K. & Serjeant, B.E. (1979) Comparison of sickle cell-beta0 thalassaemia with homozygous sickle cell disease. British Journal of Haematology, 41, 83–93. Wang, W.C., Ware, R.E., Miller, S.T., Iyer, R.V., Casella, J.F., Minniti, C.P., Rana, S., Thornburg, C.D., Rogers, Z.R., Kalpatthi, R.V., Barredo, J.C., Brown, R.C., Sarnaik, S.A., Howard, T.H., Wynn, L.W., Kutlar, A., Armstrong, F.D., Files, B.A., Goldsmith, J.C., Waclawiw, M.A., Huang, X. & Thompson, B.W. (2011) Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet, 377, 1663–1672. Zago, M.A., Costa, F.F., Freitas, T.C. & Bottura, C. (1980) Clinical, hematological and genetic features of sickle-cell anemia and sickle cell-beta thalassemia in a Brazilian population. Clinical Genetics, 18, 58–64.
British Journal of Haematology | 2018
Gian Matteo Rigolin; Elena Saccenti; Maurizio Cavallari; Luca Formigaro; Barbara Zagatti; Andrea Visentin; Francesca Romana Mauro; Enrico Lista; Cristian Bassi; Laura Lupini; Francesca Maria Quaglia; Antonio Urso; Maria Antonella Bardi; Laura Bonaldi; Eleonora Volta; Elisa Tammiso; Caterina Ilari; Luciana Cafforio; Aurora Melandri; Francesco Cavazzini; Massimo Negrini; Gianpietro Semenzato; Livio Trentin; Robin Foà; Antonio Cuneo
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.
Annals of Oncology | 2018
Sara Raponi; I Del Giudice; Marilisa Marinelli; Jiguang Wang; Luciana Cafforio; Caterina Ilari; Alfonso Piciocchi; Monica Messina; Silvia Bonina; Simona Tavolaro; Mykola Bordyuh; Paola Mariglia; Nadia Peragine; Francesca Romana Mauro; Sabina Chiaretti; Stefano Molica; Massimo Gentile; Andrea Visentin; Livio Trentin; Gian Matteo Rigolin; Antonio Cuneo; Fary Diop; Davide Rossi; Gianluca Gaidano; Anna Guarini; Raul Rabadan; R. Foa
Background Chronic lymphocytic leukemia (CLL) has a heterogeneous clinical course. Beside patients requiring immediate treatment, others show an initial indolent phase followed by progression and others do not progress for decades. The latter two subgroups usually display mutated IGHV genes and a favorable FISH profile. Patients and methods Patients with absence of disease progression for over 10 years (10-34) from diagnosis were defined as ultra-stable CLL (US-CLL). Forty US-CLL underwent extensive characterization including whole exome sequencing (WES), ultra-deep sequencing and copy number aberration (CNA) analysis to define their unexplored genetic landscape. Microarray analysis, comparing US-CLL with non-US-CLL with similar immunogenetic features (mutated IGHV/favorable FISH), was also carried out to recognize US-CLL at diagnosis. Results WES was carried out in 20 US-CLL and 84 non-silent somatic mutations in 78 genes were found. When re-tested in a validation cohort of 20 further US-CLL, no recurrent lesion was identified. No clonal mutations of NOTCH1, BIRC3, SF3B1 and TP53 were found, including ATM and other potential progression driving mutations. CNA analysis identified 31 lesions, none with known poor prognostic impact. No novel recurrent lesion was identified: most cases showed no lesions (38%) or an isolated del(13q) (31%). The expression of 6 genes, selected from a gene expression profile analysis by microarray and quantified by droplet digital PCR on a cohort of 79 CLL (58 US-CLL and 21 non-US-CLL), allowed to build a decision-tree capable of recognizing at diagnosis US-CLL patients. Conclusions The genetic landscape of US-CLL is characterized by the absence of known unfavorable driver mutations/CNA and of novel recurrent genetic lesions. Among CLL patients with favorable immunogenetics, a decision-tree based on the expression of 6 genes may identify at diagnosis patients who are likely to maintain an indolent disease for decades.
Blood | 2015
Fr Mauro; Francesco Zaja; Stefano Molica; Marta Coscia; Am Liberati; A Piciocchri; Fiorella Ilariucci; F Russo; F Re; Alessandra Tedeschi; A Baraldi; Am Carella; Alessandro Gozzetti; G. Del Poeta; Agostino Cortelezzi; R Battistini; Emilia Iannella; Antonietta Ferretti; I Del Giudice; I. Della Starza; Sara Raponi; De Propris; Caterina Ilari; Luciana Cafforio; Mauro Nanni; Paola Fazi; Marco Vignetti; Antonino Neri; Giorgina Specchia; Antonio Cuneo