Repurposing the Whole Expression Transcriptome Assay for the Genetic Diagnosis of T-Cell Acute Lymphoblastic Leukemia and Lymphoma

Authors: Bardelli, Valentina ^∗, Arniani, Silvia ^∗, Pierini, Valentina ^∗, Nardelli, Carlotta ^∗, Matteucci, Caterina ^∗, Lema Fernandez, Anair Graciela ^∗, Crocioni, Maria ^∗, Cerrano, Marco ^†, Salutari, Prassede ^‡, Papayanidis, Cristina ^§, Trappolini, Silvia ^¶, Giglio, Fabio ^‖, Mastaglio, Sara ^∗∗, Zappasodi, Patrizia ^††, Pasciolla, Crescenza ^‡‡, Defina, Marzia ^§§, Piccini, Matteo ^¶¶, Lanzarone, Giuseppe ^‖‖, Di Giacomo, Danika ^{∗, ∗∗∗}, Sica, Simona ^†††, Montefiori, Lindsey E. ^‡‡‡, Mullighan, Charles G. ^‡‡‡, Mecucci, Cristina ^∗, La Starza, Roberta ^{∗, ∗}

Source: In The Journal of Molecular Diagnostics January 2025

14q32 rearrangements deregulating BCL11B mark a distinct subgroup of T-lymphoid and myeloid immature acute leukemia

Authors: Di Giacomo, Danika ^*, La Starza, Roberta ^*, Gorello, Paolo, Pellanera, Fabrizia, Kalender Atak, Zeynep, De Keersmaecker, Kim, Pierini, Valentina, Harrison, Christine J., Arniani, Silvia, Moretti, Martina, Testoni, Nicoletta, De Santis, Giovanna, Roti, Giovanni, Matteucci, Caterina, Bassan, Renato, Vandenberghe, Peter, Aerts, Stein, Cools, Jan, Bornhauser, Beat, Bourquin, Jean-Pierre, Piazza, Rocco, Mecucci, Cristina ^*

Source: In Blood 2 September 2021 138(9):773-784

MYB rearrangements and over‐expression in T‐cell acute lymphoblastic leukemia

Authors: Bardelli, Valentina, Arniani, Silvia, Pierini, Valentina, Pierini, Tiziana, Di Giacomo, Danika, Gorello, Paolo, Moretti, Martina, Pellanera, Fabrizia, Elia, Loredana, Vitale, Antonella, Storlazzi, Clelia Tiziana, Tolomeo, Doron, Mastrodicasa, Elena, Caniglia, Maurizio, Chiaretti, Sabina, Ruggeri, Loredana, Roti, Giovanni, Schwab, Claire, Harrison, Christine J, Almeida, André, Pieters, Tim, Van Vlierberghe, Pieter, Mecucci, Cristina, La Starza, Roberta

Source: Genes, chromosomes & cancer. 60(7):482-488

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121092072.0x000001&indx=1&recIds=ETOCvdc_100121092072.0x000001

Design of a Comprehensive Fluorescence in Situ Hybridization Assay for Genetic Classification of T-Cell Acute Lymphoblastic Leukemia

Authors: La Starza, Roberta, Pierini, Valentina, Pierini, Tiziana, Nofrini, Valeria, Matteucci, Caterina, Arniani, Silvia, Moretti, Martina, Lema Fernandez, Anair G., Pellanera, Fabrizia, Di Giacomo, Danika, Storlazzi, Tiziana C., Vitale, Antonella, Gorello, Paolo, Sammarelli, Gabriella, Roti, Giovanni, Basso, Giuseppe, Chiaretti, Sabina, Foà, Robin, Schwab, Claire, Harrison, Christine J., Van Vlierberghe, Pieter, Mecucci, Cristina

Source: In The Journal of Molecular Diagnostics May 2020 22(5):629-639

LipidOne 2.0: A Web Tool for Discovering Biological Meanings Hidden in Lipidomic Data.

Authors: Alabed, Husam B. R., Mancini, Dorotea Frongia, Buratta, Sandra, Calzoni, Eleonora, Giacomo, Danika Di, Emiliani, Carla, Martino, Sabata, Urbanelli, Lorena, Pellegrino, Roberto Maria

Source: Current Protocols; Sep2024, Vol. 4 Issue 9, p1-19, 19p

The genomic basis of childhood T-lineage acute lymphoblastic leukaemia.

Authors: Pölönen, Petri, Di Giacomo, Danika, Seffernick, Anna Eames, Elsayed, Abdelrahman, Kimura, Shunsuke, Benini, Francesca, Montefiori, Lindsey E., Wood, Brent L., Xu, Jason, Chen, Changya, Cheng, Zhongshan, Newman, Haley, Myers, Jason, Iacobucci, Ilaria, Li, Elizabeth, Sussman, Jonathan, Hedges, Dale, Hui, Yawei, Diorio, Caroline, Uppuluri, Lahari

Source: Nature; Aug2024, Vol. 632 Issue 8027, p1082-1091, 10p

AML-283 The Genetic Landscape of NUP98-Rearranged Pediatric Leukemia

Authors: Umeda, Masayuki ¹, Michmerhuizen, Nicole ¹, Ma, Jing ¹, Westover, Tamara ¹, Walsh, Michael P ¹, Song, Guangchun ¹, Mecucci, Cristina ², Giacomo, Danika Di ², Locatelli, Franco ³, Masetti, Riccardo ⁴, Bertuccio, Salvatore Nicola ⁴, Pigazzi, Martina ⁵, Iacobucci, Ilaria ¹, Mullighan, Charles G ¹, Klco, Jeffery M ¹

Source: In Clinical Lymphoma, Myeloma and Leukemia October 2022 22 Supplement 2:S233-S233

AML-158 Phase Separation Mediates NUP98 Fusion Oncoprotein Leukemic Transformation

Authors: Michmerhuizen, Nicole ¹, Chandra, Bappaditya ¹, Shirnekhi, Hazheen ¹, Tripathi, Swarnendu ¹, Pioso, Brittany ¹, Baggett, David ¹, Mitrea, Diana ¹, lacobucci, Ilaria ¹, White, Michael ¹, Chen, Jingjing ², Park, Cheon-Gil ¹, Wu, Huiyun ¹, Pounds, Stanley ¹, Medyukhina, Anna ¹, Khairy, Khaled ¹, Gao, Qingsong ¹, Qu, Chunxu ¹, Gorman, Scott ¹, Bawa, Simran ¹, Maslanka, Carolyn ¹, Kinger, Swati ¹, Dogra, Priyanka ¹, Giacomo, Danika Di ³, Mecucci, Cristina ³, Klco, Jeffery ¹, Mullighan, Charles ¹, Kriwacki, Richard ¹

Source: In Clinical Lymphoma, Myeloma and Leukemia October 2022 22 Supplement 2:S220-S220

A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes

Authors: Fernandez, Anair, Crescenzi, Barbara, Pierini, Valentina, Battista, Valeria, Barba, Gianluca, Pellanera, Fabrizia, Giacomo, Danika, Roti, Giovanni, Piazza, Rocco, Adelman, Emmalee, Figueroa, Maria, Mecucci, Cristina

Source: Leukemia. 33(10):2481-2494

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190817990.0x000001&indx=1&recIds=ETOCvdc_100190817990.0x000001

A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias.

Authors: Mavridou, Elena, Lema Fernandez, Anair Graciela, Nardelli, Carlotta, Pierini, Valentina, Quintini, Martina, Arniani, Silvia, Di Giacomo, Danika, Crescenzi, Barbara, Matteucci, Caterina, Sambani, Constantina, Mecucci, Cristina

Source: Genes, Chromosomes & Cancer; Apr2024, Vol. 63 Issue 4, p1-9, 9p

NUP98/11p15 translocations affect CD34+ cells in myeloid and T lymphoid leukemias

Authors: Crescenzi, Barbara, Nofrini, Valeria, Barba, Gianluca, Matteucci, Caterina, Di Giacomo, Danika, Gorello, Paolo, Beverloo, Berna, Vitale, Antonella, Wlodarska, Iwona, Vandenberghe, Peter, La Starza, Roberta, Mecucci, Cristina

Source: In Leukemia Research July 2015 39(7):769-772

The GNAS1 gene in myelodysplastic syndromes (MDS)

Authors: Di Giacomo, Danika, Lema Fernandez, Anair Graciela, Pierini, Tiziana, Crescenzi, Barbara, Brandimarte, Lucia, Matteucci, Caterina, Testoni, Nicoletta, Mecucci, Cristina

Source: In Leukemia Research July 2014 38(7):804-807

Comprehensive Genome Characterization of Childhood T-ALL Links Oncogene Activation Mechanism and Subtypes to Prognosis

Authors: Pölönen, Petri, Elsayed, Abdelrahman ^*, Di Giacomo, Danika ^*, Montefiori, Lindsey, Kimura, Shunsuke ^*, Myers, Jason ^*, Hedges, Dale ^*, Xu, Jason, Hui, Yawei ^*, Cheng, Zhongshan ^*, Fan, Yiping ^*, Iacobucci, Ilaria, Chang, Yunchao ^*, Shraim, Rawan ^*, Devidas, Meenakshi ^*, Winter, Stuart S., Dunsmore, Kimberly P. ^*, Yang, Jun J.J., Vincent, Tiffaney L. ^*, Tan, Kai, Chen, Changya ^*, Newman, Haley, Loh, Mignon L., Raetz, Elizabeth A., Hunger, Stephen P., Rampersaud, Evadnie ^*, Chang, Ti-Cheng ^*, Wu, Gang ^*, Pounds, Stanley B. ^*, Mullighan, Charles G., Teachey, David T.

Source: In Blood 15 November 2022 140 Supplement 1:1727-1729

Involvement of a member of the histone cluster 1 at 6p21 in NUP98-positive MDS/AML

Authors: Di Giacomo, Danika, Pierini, Valentina, La Starza, Roberta, Borlenghi, Erika, Pellanera, Fabrizia, Lema Fernandez, Anair Graciela, Bellotti, Daniela, Lamorgese, Cinzia, Rossi, Giuseppe, Mecucci, Cristina

Source: Leukemia & lymphoma. 58(11):2765-2767

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100049436822.0x000001&indx=1&recIds=ETOCvdc_100049436822.0x000001

Poster: AML-158 Phase Separation Mediates NUP98 Fusion Oncoprotein Leukemic Transformation

Authors: Michmerhuizen, Nicole, Chandra, Bappaditya, Shirnekhi, Hazheen, Tripathi, Swarnendu, Pioso, Brittany, Baggett, David, Mitrea, Diana, Iacobucci, Ilaria, White, Michael, Chen, Jingjing, Park, Cheon-Gil, Wu, Huiyun, Pounds, Stanley, Medyukhina, Anna, Khairy, Khaled, Gao, Qingsong, Qu, Chunxu, Gorman, Scott, Bawa, Simran, Maslanka, Carolyn, Kinger, Swati, Dogra, Priyanka, Giacomo, Danika Di, Mecucci, Cristina, Klco, Jeffery, Mullighan, Charles, Kriwacki, Richard

Source: Clinical lymphoma, myeloma & leukemia. 22(S2):S129-S129

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172885518.0x000001&indx=1&recIds=ETOCvdc_100172885518.0x000001

Poster: AML-283 The Genetic Landscape of NUP98-Rearranged Pediatric Leukemia

Authors: Umeda, Masayuki, Michmerhuizen, Nicole, Ma, Jing, Westover, Tamara, Walsh, Michael P, Song, Guangchun, Mecucci, Cristina, Giacomo, Danika Di, Locatelli, Franco, Masetti, Riccardo, Bertuccio, Salvatore Nicola, Pigazzi, Martina, Iacobucci, Ilaria, Mullighan, Charles G, Klco, Jeffery M

Source: Clinical lymphoma, myeloma & leukemia. 22(S2):S132-S132

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172885336.0x000001&indx=1&recIds=ETOCvdc_100172885336.0x000001

Genetic and Functional Characterization of NUP98-Rearranged Leukemia

Authors: Umeda, Masayuki, Michmerhuizen, Nicole, Hiltenbrand, Ryan, Barajas, Juan, Arthur, Bright, Walsh, Michael P, Song, Guangchun, Ma, Jing, Westover, Tamara, Mecucci, Cristina, Di Giacomo, Danika, Locatelli, Franco, Masetti, Riccardo, Bertuccio, Salvatore, Pigazzi, Martina, Iacobucci, Ilaria, Mullighan, Charles G., Klco, Jeffery M.

Source: In Blood 2 November 2023 142 Supplement 1:1562-1562

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults

Authors: Arniani, Silvia, Pierini, Valentina, Pellanera, Fabrizia, Matteucci, Caterina, Di Giacomo, Danika, Bardelli, Valentina, Quintini, Martina, Mavridou, Elena, Lema Fernandez, Anair Graciela, Nardelli, Carlotta, Moretti, Martina, Gorello, Paolo, Crescenzi, Barbara, Romoli, Silvia, Beacci, Donatella, Cerrano, Marco, Fracchiolla, Nicola, Sica, Simona, Forghieri, Fabio, Giglio, Fabio, Dargenio, Michela, Elia, Loredana, La Starza, Roberta, Mecucci, Cristina

Source: Leukemia; November 2022, Vol. 36 Issue: 11 p2577-2585, 9p

MYB deregulation from a EWSR1-MYB fusion at leukemic evolution of a JAK2^V617F positive primary myelofibrosis.

Authors: Pierini, Tiziana¹, Di Giacomo, Danika¹, Pierini, Valentina¹, Gorello, Paolo¹, Barba, Gianluca¹, Fernandez, Anair Graciela Lema¹, Pellanera, Fabrizia¹, Iannotti, Tamara¹, Falzetti, Franca¹, La Starza, Roberta¹, Mecucci, Cristina¹ cristina.mecucci@unipg.it

Source: Molecular Cytogenetics (17558166). 9/1/2016, Vol. 9, p1-6. 6p.

Subject Terms: *MYELOFIBROSIS, *MYB gene, *CHROMOSOMAL rearrangement, *TRANSCRIPTION factors, *CELL transformation, *CANCER chemotherapy, *OLDER people, *PATIENTS

Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement.

Authors: Di Giacomo, Danika¹ (AUTHOR), Quintini, Martina¹ (AUTHOR), Pierini, Valentina¹ (AUTHOR), Pellanera, Fabrizia¹ (AUTHOR), La Starza, Roberta¹ (AUTHOR), Gorello, Paolo^1,2 (AUTHOR), Matteucci, Caterina¹ (AUTHOR), Crescenzi, Barbara¹ (AUTHOR), Fiumara, Paolo Fabio³ (AUTHOR), Veltroni, Marinella⁴ (AUTHOR), Borlenghi, Erika⁵ (AUTHOR), Albano, Francesco⁶ (AUTHOR), Forghieri, Fabio⁷ (AUTHOR), Maccaferri, Monica⁷ (AUTHOR), Bettelli, Francesca⁷ (AUTHOR), Luppi, Mario⁷ (AUTHOR), Cuneo, Antonio⁸ (AUTHOR), Rossi, Giuseppe⁵ (AUTHOR), Mecucci, Cristina¹ (AUTHOR) cristina.mecucci@unipg.it

Source: Annals of Hematology. Feb2022, Vol. 101 Issue 2, p297-307. 11p.

Subject Terms: *PLATELET-derived growth factor receptors, *GENE rearrangement, *SINGLE nucleotide polymorphisms, *PROTEIN-tyrosine kinases