Publications

  • Visentin A, Gaffo E, Fürstenau M, Rogers KA, Baliakas P, Cui C, Miller C, Haferlach C, Plevova K, Oscier D, Davis Z, Nguyen-Khac F, Rigolin GM, Athanasiadou A, Baran-Marszak F, Valiente A, Terol MJ, Abrisqueta P, Espinet B, Puiggros A, Martines A, Bonaldi L, Mauro FR, Scarfò L, Chatzikonstantinou T, Tausch E, Kreuzer KA, Kater A, Bosch F, Doubek M, Panagiotidis P, Kalashnikova O, Frezzato F, Calbretto G, Ruocco V, Orsi S, Cellini A, Angotzi F, Serafin A, Yi S, Eichhorst B, Woyach JA, Cuneo A, Ghia P, Stamatopoulos K, Trentin L, Bortoluzzi S. Clinical and transcriptomic characterization of patients with chronic lymphocytic leukemia harboring t(14;19): an ERIC study. LEUKEMIA. 2025 IN PRESS.
    Calabretto G, Binatti A, Teramo A, Buratin A, Barilà G, Gasparini VR, Vicenzetto C, Gaffo E, Rampazzo E, Orsi S, Buson E, Trimarco V, Mariotti B, Facco M, Bazzoni F, Trentin L, Semenzato G, Zambello R, Bortoluzzi S. Transcriptomic landscape of CD8+ and CD4 + T-LGL leukemia revealed the distinct impact of STAT3 and STAT5B activating mutations. LEUKEMIA. 2025 Jul 28. doi: 10.1038/s41375-025-02708-1.
  • Roncaglia E, Gaffo E, Calabretto G, Fürstenau M, Rogers KA, Baliakas P, Cui C, Miller C, Haferlach C, Plevova K, Oscier D, Davis Z, Nguyen-Khac F, Rigolin GM, Athanasiadou A, Baran-Marszak F, Valiente A, Terol MJ, Abrisqueta P, Espinet B, Puiggros A, Martines A, Bonaldi L, Mauro FR, Scarfò L, Chatzikonstantinou T, Tausch E, Kreuzer KA, Kater A, Bosch F, Doubek M, Panagiotidis P, Kalashnikova O, Frezzato F, Ruocco V, Orsi S, Salek K, Merlo R, Caregari A, Glogovitis I, Cellini A, Angotzi F, Serafin A, Yi S, Eichhorst B, Woyach JA, Cuneo A, Ghia P, Stamatopoulos K, Trentin L, Visentin A, Bortoluzzi S. Circular RNA signature of aggressive CLL with t(14;19)(q32;q13). An ERIC study. JOURNAL OF HAEMATOLOGY & ONCOLOGY, 2025 Jul 22;18(1):74. doi: 10.1186/s13045-025-01725-y.
  • Latowska-Łysiak J, Zarębska Ż, Sajek MP, Grabowska A, Buratin A, Głodowicz P, Misiorek JO, Kuczyński K, Bortoluzzi S, Żywicki M, Kosiński JG, Rybak-Wolf A, Piestrzeniewicz R, Barciszewska AM, Rolle K. Transcriptome-wide analysis of circRNA and RBP profiles and their molecular relevance for GBM. MOLECULAR ONCOLOGY 2025 Feb 26. doi: 10.1002/1878-0261.70005.
  • Gasparini VR, Rampazzo E, Barilà G, Buratin A, Buson E, Calabretto G, Vicenzetto C, Orsi S, Tonini A, Teramo A, Trentin L, Facco M, Semenzato G, Bortoluzzi S, Zambello R. Proteasome Inhibitors Induce Apoptosis in Ex Vivo Cells of T-Cell Prolymphocytic Leukemia. INT J MOL SCI. 2024 Dec 18;25(24):13573. doi: 10.3390/ijms252413573.
  • Salzmann RJS, Garbin A, Gaffo E, Elia C, Martire G, Bortoluzzi S, Tondo A, Muggeo P, Sala A, Pizzi M, Pillon M, Carraro E, Lopci E, de Re V, Mascarin M, Mussolin L. Extracellular Vesicle miR-122-5p as a Prognostic Biomarker in Pediatric Classical Hodgkin Lymphoma. INT J MOL SCI. 2024 Dec 10;25(24):13243. doi: 10.3390/ijms252413243.
  • Alessia Buratin, Bruno Palhais, Enrico Gaffo, Juliette Roels, Julie Morscio, Jolien Van Laere, Silvia Orsi, Geertruij te Kronnie, Pieter Van Vlierberghe, Panagiotis Ntziachristos and Stefania Bortoluzzi. Depletion of the RNA binding protein QKI and circular RNA dysregulation in T-cell acute lymphoblastic leukemia. HAEMATOLOGICA. 2024 Dec 5. doi: 10.3324/haematol.2024.285971.
  • Tosi A, Parisatto B, Gaffo E, Bortoluzzi S, Rosato A. A paclitaxel-hyaluronan conjugate (ONCOFID-P-B™) in patients with BCG-unresponsive carcinoma in situ of the bladder: a dynamic assessment of the tumor microenvironment. JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH. 2024. Apr 10;43(1):109. doi: 10.1186/s13046-024-03028-5.
  • Tretti Parenzan C, Molin AD, Longo G, Gaffo E, Buratin A, Cani A, Boldrin E, Serafin V, Guglielmelli P, Vannucchi AM, Cazzaniga G, Biondi A, Locatelli F, Meyer LH, Buldini B, Te Kronnie G, Bresolin S, Bortoluzzi S. Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion. BLOOD ADVANCES. 2023 Nov 29. doi: 10.1182/bloodadvances.2023011291.
  • Vromman M, Anckaert J, Bortoluzzi S, Buratin A, Chen CY, Chu Q, Chuang TJ, Dehghannasiri R, Dieterich C, Dong X, Flicek P, Gaffo E, Gu W, He C, Hoffmann S, Izuogu O, Jackson MS, Jakobi T, Lai EC, Nuytens J, Salzman J, Santibanez-Koref M, Stadler P, Thas O, Vanden Eynde E, Verniers K, Wen G, Westholm J, Yang L, Ye CY, Yigit N, Yuan GH, Zhang J, Zhao F, Vandesompele J, Volders PJ. Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision. NAT METHODS. 2023 Aug;20(8): 1159-1169. doi: 10.1038/s41592-023-01944-6. Cover Article.
  • Garbin A, Contarini G, Damanti CC, Tosato A, Bortoluzzi S, Gaffo E, Pizzi M, Carraro E, Lo Nigro L, Vinti L, Pillon M, Biffi A, Lovisa F, Mussolin L. Biochem Pharmacol. MiR-146a-5p enrichment in small-extracellular vesicles of relapsed pediatric ALCL patients promotes macrophages infiltration and differentiation. BIOCHEM PHARMACOL. 2023 Aug 15;215:115747. doi: 10.1016/j.bcp.2023.115747.
  • Damanti CC, Ferrone L, Gaffo E, Garbin A, Tosato A, Contarini G, Gallingani I, Angioni R, Molon B, Borile G, Carraro E, Pillon M, Scarmozzino F, Dei Tos AP, Pizzi M, Ciscato F, Rasola A, Biffi A, Bortoluzzi S, Lovisa F, Mussolin L. Plasma small-extracellular vesicles enriched in miR-122-5p promote disease aggressiveness in pediatric anaplastic large-cell lymphoma. CANCER COMMUNICATIONS. (Lond). 2023 May;43(5):630-634. doi: 10.1002/cac2.12415.
  • Buratin A, Borin C, Tretti Parenzan C, Dal Molin A, Orsi S, Binatti A, Simon K, Paganin M, Serafin V, Gaffo E, Te Kronnie G, Van Vlierberghe P, Bresolin S, Bortoluzzi S. CircFBXW7 in patients with T-cell ALL: depletion sustains MYC and NOTCH activation and leukemia cell viability. EXP HEMATOL ONCOL. 2023 Jan 21;12(1): 12. doi: 10.1186/s40164-023-00374-6.
  • Buratin A, Bortoluzzi S*, Gaffo E. Systematic benchmarking of statistical methods to assess differential expression of circular RNAs. BRIEF BIOINFORM. 2023 Jan 19;24(1): bbac612. doi: 10.1093/bib/bbac612. *Co-last Author
  • Dal Molin A, Tretti Parenzan C, Gaffo E, Borin C, Boldrin E, Meyer LH, Te Kronnie G, Bresolin S, Bortoluzzi S. Discovery of fusion circular RNAs in leukemia with KMT2A::AFF1 rearrangements by the new software CircFusion. BRIEF BIOINFORM. 2023 Jan 19;24(1): bbac589. doi: 10.1093/bib/bbac589.
    Esposito MT, Hagström-Andersson A, Stam RW, Bortoluzzi S. Editorial: Harnessing chemotherapy resistance and development of novel therapeutic strategies for acute leukemia with KMT2A (MLL) -gene rearrangements. FRONT PHARMACOL. 2022 Aug 8;13:977741. doi: 10.3389/fphar.2022.977741. eCollection 2022.
  • Teramo A, Binatti A, Ciabatti E, Schiavoni G, Tarrini G, Barilà G, Calabretto G, Vicenzetto C, Gasparini VR, Facco M, Petrini I, Grossi R, Pisanti N, Bortoluzzi S, Falini B, Tiacci E, Galimberti S, Semenzato G, Zambello R. Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation. NAT COMMUN. 2022 Jun 8;13(1): 3298.
  • Buratin A, Romualdi C, Bortoluzzi S*, Gaffo E. Detecting differentially expressed circular RNAs from multiple quantification methods using a generalized linear mixed model. COMPUT STRUCT BIOTECHNOL J. 2022 May 20;20:2495-2502. *Co-last Author
  • Tombolan L, Rossi E, Binatti A, Zin A, Manicone M, Facchinetti A, Lucchetta S, Affinita MC, Bonvini P, Bortoluzzi S, Zamarchi R, Bisogno G. Clinical significance of Circulating Tumor Cells and Cell-free DNA in pediatric rhabdomyosarcoma. MOLECULAR ONCOLOGY 2022 May;16(10): 2071-2085.
  • Dal Molin A, Gaffo A, DiFilippo V, Buratin A, Tretti C, Bresolin S, Bortoluzzi S. CRAFT: a bioinformatics software for custom prediction of circular RNA functions. BRIEFINGS IN BIOINFORMATICS 2022 Jan 31. doi: 10.1093/bib/bbab601.
  • Enrico Gaffo, Alessia Buratin, Anna Dal Molin, Stefania Bortoluzzi, Sensitive, reliable and robust circRNA detection from RNA-seq with CirComPara2, Briefings in Bioinformatics, Volume 23, Issue 1, January 2022, bbab418, https://doi.org/10.1093/bib/bbab418

  • Buratin A, Gaffo A, Dal Molin A, Bortoluzzi S. CircIMPACT: An R Package to Explore Circular RNA Impact on Gene Expression and Pathways. GENES 2021, 12(7), 1044.

  • Gaffo E, Buratin A, Dal Molin A, Bortoluzzi S. Bioinformatic Analysis of Circular RNA Expression. METHODS MOL BIOL. 2021;2348:343-370.

  • Agnelli L, Bortoluzzi S., Pruneri G. Bioinformatic Pipelines to Analyze lncRNAs RNAseq Data. METHODS MOL BIOL. 2021;2348:55-69.

  • Maura F, Agnelli L, Bortoluzzi S. Genomics of Lymphoproliferative Disease. FRONT ONCOL. 2021 Mar 17;11:660016.

  • Boldrin E, Gaffo E, Niedermayer A, Boer JM, Zimmermann M, Weichenhan D, Claus R, Münch V, Sun Q, Enzenmüller S, Seyfried F, Demir S, Zinngrebe J, Cario G, Schrappe M, Den Boer ML, Plass C, Debatin KM, te Kronnie G, Bortoluzzi S*, Meyer LH MicroRNA-497/195 is tumor-suppressive and cooperates with CDKN2A/B in pediatric acute lymphoblastic leukemia. BLOOD 2021 Jun 7:blood.2020007591. *Co-last Author

  • Giussani E, Binatti A, Calabretto G, Gasparini VR, Teramo A, Vicenzetto C, Barilà G, Facco M, Coppe A, Semenzato G, Bortoluzzi S*, Zambello R. Lack of Viral Load Within Chronic Lymphoproliferative Disorder of Natural Killer Cells: What Is Outside the Leukemic Clone? FRONT ONCOL. 2021 Jan 18;10:613570. *Co -last Author

  • Lovisa F, Garbin A, Crotti S, Di Battista P, Gallingani I, Damanti C, Tosato A, Carraro E, Pillon M, Mafakheri E, Romanato F, Gaffo E, Biffi A, Bortoluzzi S, Agostini M, Mussolin L. Increased Tenascin C, osteopontin and Hsp90 levels in plasmatic exosomes of pediatric ALK-positive anaplastic large cell lymphoma: new diagnostic opportunity DIAGNOSTICS 2021 11 (2), 253.

  • Damanti C, Gaffo E, Lovisa F, Garbin A, Di Battista P, Gallingani I, Tosato A, Pillon M, Carraro E, Mascarin M, Elia C, Biffi A, Bortoluzzi S.*, Mussolin L. Reference microRNAs to normalize small RNA qRT-PCR levels in plasmatic exosomes of pediatric hematologic malignancies. CELLS. 2021 Jan 8;10(1):101. *Corresponding and co-last Author

  • Dal Molin A, Hofmans M, Gaffo E, Buratin A, Cavé H, Flotho C, de Haas V, Niemeyer CM, Stary J, Van Vlierberghe P, Philippé J, De Moerloose B, te Kronnie G, Bresolin S, Lammens T, Bortoluzzi S. Dysregulation of circRNAs and novel disease networks in Juvenile Myelomonocytic Leukemia. FRONT. CELL DEV. BIOL. 2021 Jan 6;8:613540.​

  • Buratin A, Paganin M, Gaffo E, Dal Molin A, Roels J, Germano G, Siddi MT, Serafin V, De Decker M, Gachet S, Durinck K, Speleman F, Taghon T, Te Kronnie G, Van Vlierberghe P, Bortoluzzi S. Large-scale circular RNA deregulation in T-ALL: unlocking unique ectopic expression of molecular subtypes. BLOOD ADV. 2020 Dec 8;4(23):5902-5914.

  • Marzollo A, Maestrini G, La Starza R, Elia L, Malfona F, Pierini T, Tretti Parenzan C, Coppe A, Bortoluzzi S, Biffi A, Mecucci C, Bresolin S, Testi AM. A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia. AM J HEMATOL. 2020 Dec;95(12):E335-E338.

  • Binatti A, Bresolin S, Bortoluzzi S, Coppe A. iWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data. BRIEF BIOINFORM. 2020 May 20:bbaa065.

  • Gasparini VR, Binatti A, Coppe A, Teramo A, Vicenzetto C, Calabretto G, Barilà G, Barizza A, Giussani E, Facco M, Mustjoki S, Semenzato G, Zambello R, Bortoluzzi S. A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells. BLOOD CANCER J. 2020 Apr 22;10(4):42. doi: 10.1038/s41408-020-0309-2

  • Lovisa F, Di Battista P, Gaffo E, Damanti CC, Garbin A, Gallingani I, Carraro E, Pillon M, Biffi A, Bortoluzzi S*, Mussolin L. RNY4 in Circulating Exosomes of Patients With Pediatric Anaplastic Large Cell Lymphoma: An Active Player? FRONT ONCOL. 2020 Feb 27;10:238. doi: 10.3389/fonc.2020.00238.

  • Gaffo E, Bortolomeazzi M, Bisognin A, Di Battista P, Lovisa F, Mussolin L, Bortoluzzi S. MiR&moRe2: A Bioinformatics Tool to Characterize microRNAs and microRNA-Offset RNAs from Small RNA-Seq Data. INT J MOL SCI. 2020 Mar 4;21(5):1754. doi: 10.3390/ijms21051754.​

  • Gaffo E, Boldrin E, Dal Molin A, Bresolin S, Bonizzato A, Trentin L, Frasson C, Debatin K-M, Meyer L, te Kronnie G, Bortoluzzi S. Circular RNA differential expression in blood cell populations and exploration of circRNA deregulation in pediatric acute lymphoblastic leukemia. SCIENTIFIC REPORTS. 2019 9: 14670. doi: 10.1038/s41598-019-50864-z.

  • Lovisa F, Binatti A, Coppe A, Primerano S, Carraro E, Pillon M, Pizzi M, Guzzardo V, Buffardi S, Porta F, Farruggia P, De Santis R, Bulian P, Basso G, Lazzari E, d'Amore ESG, Bortoluzzi S, Mussolin L. A high definition picture of key genes and pathways mutated in pediatric follicular lymphoma. HAEMATOLOGICA. 2019 Feb 28. pii: haematol.2018.211631. doi: 10.3324/haematol.2018.211631. *Co-last author.

  • Dal Molin A, Bresolin S, Gaffo E, Tretti C, Boldrin E, Meyer LH, Guglielmelli P, Vannucchi AM, Te Kronnie G, Bortoluzzi S. CircRNAs Are Here to Stay: A Perspective on the MLL Recombinome. FRONT GENET. 2019 Feb 13;10:88. doi:10.3389/fgene.2019.00088.

  • Perilli L, Tessarollo S, Albertoni L, Curtarello M, Pastò A, Brunetti E, Fassan M, Rugge M, Indraccolo S, Amadori A, Bortoluzzi S, Zanovello P. Silencing of miR-182 is associated with modulation of tumorigenesis through apoptosis induction in an experimental model of colorectal cancer. BMC CANCER 2019 Aug; 19: 821. doi: 10.1186/s12885-019-5982-9.

  • Agnelli L, Bisognin A, Todoerti K, Manzoni M, Taiana E, Galletti S, Cutrona G, Gaffo E, Bortoluzzi S, Neri A. Expanding the repertoire of miRNAs and miRNA-offset RNAs expressed in multiple myeloma by small RNA deep sequencing. BLOOD CANCER J. 2019 Feb 19;9(3):21. doi: 10.1038/s41408-019-0184-x.​