GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects

Authors: Kotmayer, Lili, Romero‐Moya, Damia, Marin‐Bejar, Oskar, Kozyra, Emilia, Català, Albert, Bigas, Anna, Wlodarski, Marcin W., Bödör, Csaba, Giorgetti, Alessandra

Source: British journal of haematology. 199(4):482-495

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165058417.0x000001&indx=1&recIds=ETOCvdc_100165058417.0x000001

Morphologic and molecular analysis of Richter syndrome in chronic lymphocytic leukaemia patients treated with ibrutinib or venetoclax

Authors: Gángó, Ambrus, Kiss, Richárd, Farkas, Péter, Hanna, Eid, Demeter, Judit, Deák, Beáta, Lévai, Dóra, Kotmayer, Lili, Alpár, Donát, Matolcsy, András, Bödör, Csaba, Mátrai, Zoltán, Timár, Botond

Source: Pathology. 54(1):95-103

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155736908.0x000001&indx=1&recIds=ETOCvdc_100155736908.0x000001

Germline MUTYH mutations and high‐grade gliomas: Novel evidence for a potential association

Authors: Bedics, Gábor, Kotmayer, Lili, Zajta, Erik, Hegyi, Lajos László, Brückner, Edit Ágota, Rajnai, Hajnalka, Reiniger, Lilla, Bödör, Csaba, Garami, Miklós, Scheich, Bálint

Source: Genes, chromosomes & cancer. 61(10):622-628

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157790951.0x000001&indx=1&recIds=ETOCvdc_100157790951.0x000001

Screening and monitoring of the BTKC481S mutation in a real‐world cohort of patients with relapsed/refractory chronic lymphocytic leukaemia during ibrutinib therapy

Authors: Bödör, Csaba, Kotmayer, Lili, László, Tamás, Takács, Ferenc, Barna, Gábor, Kiss, Richárd, Sebestyén, Endre, Nagy, Tibor, Hegyi, Lajos László, Mikala, Gábor, Fekete, Sándor, Farkas, Péter, Balogh, Alexandra, Masszi, Tamás, Demeter, Judit, Weisinger, Júlia, Alizadeh, Hussain, Kajtár, Béla, Kohl, Zoltán, Szász, Róbert, Gergely, Lajos, Gurbity Pálfi, Timea, Sulák, Adrienn, Kollár, Balázs, Egyed, Miklós, Plander, Márk, Rejtő, László, Szerafin, László, Ilonczai, Péter, Tamáska, Péter, Pettendi, Piroska, Lévai, Dóra, Schneider, Tamás, Sebestyén, Anna, Csermely, Péter, Matolcsy, András, Mátrai, Zoltán, Alpár, Donát

Source: British journal of haematology. 194(2):355-364

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100142027578.0x000001&indx=1&recIds=ETOCvdc_100142027578.0x000001

Landscape of BCL2 Resistance Mutations in a Real-World Cohort of Patients with Relapsed/Refractory Chronic Lymphocytic Leukemia Treated with Venetoclax.

Authors: Kotmayer, Lili¹ (AUTHOR), László, Tamás¹ (AUTHOR), Mikala, Gábor² (AUTHOR), Kiss, Richárd¹ (AUTHOR), Lévay, Luca¹ (AUTHOR), Hegyi, Lajos László¹ (AUTHOR), Gróf, Stefánia¹ (AUTHOR), Nagy, Tibor^1,3 (AUTHOR), Barna, Gábor¹ (AUTHOR), Farkas, Péter⁴ (AUTHOR), Weisinger, Júlia⁴ (AUTHOR), Nagy, Zsolt⁴ (AUTHOR), Balogh, Alexandra⁴ (AUTHOR), Masszi, Tamás⁴ (AUTHOR), Demeter, Judit⁵ (AUTHOR), Sulák, Adrienn⁶ (AUTHOR), Kohl, Zoltán⁷ (AUTHOR), Alizadeh, Hussain⁷ (AUTHOR), Egyed, Miklós⁸ (AUTHOR), Pettendi, Piroska⁹ (AUTHOR)

Source: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5802. 15p.

Subject Terms: *CHRONIC lymphocytic leukemia, *VENETOCLAX, *GENETIC mutation, *BRAIN stimulation, *DEEP brain stimulation, *CONVERGENT evolution, *SYMPTOMS

Low‐burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation.

Authors: László, Tamás, Kotmayer, Lili, Fésüs, Viktória, Hegyi, Lajos, Gróf, Stefánia, Nagy, Ákos, Kajtár, Béla, Balogh, Alexandra, Weisinger, Júlia, Masszi, Tamás, Nagy, Zsolt, Farkas, Péter, Demeter, Judit, Istenes, Ildikó, Szász, Róbert, Gergely, Lajos, Sulák, Adrienn, Borbényi, Zita, Lévai, Dóra, Schneider, Tamás

Source: Journal of Pathology: Clinical Research; Jan2024, Vol. 10 Issue 1, p1-12, 12p

Subject Terms: CHRONIC lymphocytic leukemia, LYMPHOCYTIC leukemia, CHRONIC leukemia, GENETIC mutation, NUCLEOTIDE sequencing, GENE frequency

OC 20 - GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS

Authors: Kotmayer, Lili, Kozyra, Emilia, Kaiser, Maximilian, Dworzak, Michael, Moerloose, Barbara De, Starý, Jan, Hasle, Henrik, Jahnukainen, Kirsi, Polychronopoulou, Sophia, Kállay, Krisztián, Smith, Owen, Barzilai, Shlomit, Masetti, Riccardo, Buechner, Jochen, Ussowicz, Marek, Kjollerstrom, Paula, Boďová, Ivana, Kavcic, Marko, Catala, Albert, Turkiewicz, Dominik, Schmugge, Markus, Haas, Valérie De, Voss, Rebecca, Bigas, Anna, Romero, Damia, Bödör, Csaba, Erlacher, Miriam, Giorgetti, Alessandra, Niemeyer, Charlotte, Wlodarski, Marcin

Source: In EJC Paediatric Oncology December 2023 2 Supplement 1

PersonALL: a genetic scoring guide for personalized risk assessment in pediatric B-cell precursor acute lymphoblastic leukemia.

Authors: Bedics, Gábor, Egyed, Bálint, Kotmayer, Lili, Benard-Slagter, Anne, de Groot, Karel, Bekő, Anna, Hegyi, Lajos László, Bátai, Bence, Krizsán, Szilvia, Kriván, Gergely, Erdélyi, Dániel J., Müller, Judit, Haltrich, Irén, Kajtár, Béla, Pajor, László, Vojcek, Ágnes, Ottóffy, Gábor, Ujfalusi, Anikó, Szegedi, István, Tiszlavicz, Lilla Györgyi

Source: British Journal of Cancer; Aug2023, Vol. 129 Issue 3, p455-465, 11p

Systematic Mapping of Gene-Editable Mutations in GATA2 and SAMD9/SAMD9L Syndromes

Authors: Krzyzanowski, Damian, Sahoo, Sushree S, Kotmayer, Lili, Yoshida, Masanori, Khiami, Majd, Giorgetti, Alessandra, Tsai, Shengdar Q, Bhoopalan, Senthil V, Yen, Jonathan S, Wlodarski, Marcin W

Source: In Blood 2 November 2023 142 Supplement 1:1362-1362

A cherubismus előfordulása három testvérben. (Hungarian)

Alternate Title: Cherubism in three siblings. (English)

Authors: Jákob, Noémi, Pintér, Gábor Tamás, Kotmayer, Lili, Nagy, Péter, Bödör, Csaba, Barabás, Péter, Bécser, Janka, Szabó, György, Bogdán, Sándor

Source: Hungarian Medical Journal / Orvosi Hetilap; 2022, Vol. 163 Issue 11, p446-452, 7p

Multiplex CRISPR/Cas9 Gene Editing in Human Stem Cells to Model Clonal Competition in GATA2 Deficiency

Authors: Romero-Moya, Damia ^*, Marin-Bejar, Oskar ^*, Distefano, Maximiliano ^*, Pera, Joan ^*, Castaño, Julio ^*, Gonzalez, Jessica ^*, Kotmayer, Lili ^*, Bödör, Csaba ^*, Català, Albert ^*, Wlodarski, Marcin W, Bigas, Anna ^*, Giorgetti, Alessandra ^*

Source: In Blood 15 November 2022 140 Supplement 1:8664-8665

IBCL-057: Liquid Biopsy-Based Monitoring of Ezh2 Mutations in Follicular Lymphoma: Implications for Non-Invasive Disease Monitoring and Targeted Therapy

Authors: Nagy, Ákos, Bâtai, Bence, Balogh, Alexandra, Illés, Sarolta, Mikala, Gábor, Nagy, Noémi, Kiss, Laura, Kotmayer, Lili, Matolcsy, András, Alpár, Donát, Masszi, Tamás, Masszi, András, Bödör, Csaba

Source: Clinical lymphoma, myeloma & leukemia. 20(S1):S277-S277

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116347914.0x000001&indx=1&recIds=ETOCvdc_100116347914.0x000001

Screening and monitoring of the BTK^C481S mutation in a real‐world cohort of patients with relapsed/refractory chronic lymphocytic leukaemia during ibrutinib therapy.

Authors: Bödör, Csaba¹ (AUTHOR), Kotmayer, Lili¹ (AUTHOR), László, Tamás¹ (AUTHOR), Takács, Ferenc¹ (AUTHOR), Barna, Gábor¹ (AUTHOR), Kiss, Richárd¹ (AUTHOR), Sebestyén, Endre¹ (AUTHOR), Nagy, Tibor² (AUTHOR), Hegyi, Lajos László¹ (AUTHOR), Mikala, Gábor³ (AUTHOR), Fekete, Sándor³ (AUTHOR), Farkas, Péter⁴ (AUTHOR), Balogh, Alexandra⁴ (AUTHOR), Masszi, Tamás⁴ (AUTHOR), Demeter, Judit⁵ (AUTHOR), Weisinger, Júlia⁵ (AUTHOR), Alizadeh, Hussain⁶ (AUTHOR), Kajtár, Béla⁷ (AUTHOR), Kohl, Zoltán⁶ (AUTHOR), Szász, Róbert⁸ (AUTHOR)

Source: British Journal of Haematology. Jul2021, Vol. 194 Issue 2, p355-364. 10p.

Subject Terms: *CHRONIC leukemia, *LYMPHOCYTIC leukemia, *BRUTON tyrosine kinase, *SOMATIC mutation, *DISEASE relapse, *DISEASE remission

A krónikus lymphocytás leukaemia genetikai háttere és személyre szabott terápiája. (Hungarian)

Alternate Title: Genetic landscape and targeted therapy of chronic lymphocytic leukemia. (English)

Authors: Kotmayer, Lili, Balogh, Alexandra, Gróf, Stefánia, Gángó, Ambrus, Bödör, Csaba

Source: Orvosképzés; 2021, Vol. 96 Issue 2, p551-564, 14p

Daganatos megbetegedések célzott diagnosztikáját és kezelését támogató molekuláris diagnosztikai eljárások a mindennapokban. (Hungarian)

Alternate Title: Routine application of molecular diagnostic techniques for precision diagnostics and therapy in oncology. (English)

Authors: Kotmayer, Lili, Papp, Gergő, Baghy, Kornélia, Zajta, Erik, Matolcsy, András, Bödör, Csaba

Source: Orvosképzés; 2021, Vol. 96 Issue 2, p311-321, 11p

PB1909: LOW‐BURDEN TP53 MUTATIONS REPRESENT FREQUENT GENETIC EVENTS IN CLL WITH AN INCREASED RISK FOR TREATMENT INITIATION.

Authors: László, Tamás, Kotmayer, Lili, Hegyi, Lajos, Gróf, Stefánia, Kajtár, Béla, Balogh, Alexandra, Weisinger, Júlia, Masszi, Tamás, Nagy, Zsolt, Demeter, Judit, Farkas, Péter, Istenes, Ildikó, Szász, Róbert, Gergely, Lajos, Sulák, Adrienn, Borbényi, Zita, Lévai, Dóra, Schneider, Tamás, Szaleczky, Erika, Pettendi, Piroska

Source: HemaSphere; 2023 Supplement 3, Vol. 7, p1-2, 2p

P718: EPIGENOME PROFILING REVEALS ABERRANT DNA METHYLATION SIGNATURE IN GATA2 DEFICIENCY.

Authors: Marin‐Bejar, Oskar, Romero‐Moya, Damia, Rodriguez‐Ubreva, Javier, Distefano, Maximiliano, Lessi, Francesca, Aretini, Paolo, Liquori, Alessandro, Castaño, Julio, Kozyra, Emilia, Kotmayer, Lili, Bueno, Clara, Cervera, José, Carlos Rodriguez‐Gallego, José, F Nomdedeu, Josep, Murillo‐Sanjuán, Laura, Díaz de Heredia, Cristina, Pérez‐Martinez, Antonio, López‐Cardenas, Félix, Martínez‐Laperche, Carolina, Dorado‐Herrero, Nieves

Source: HemaSphere; 2023 Supplement 3, Vol. 7, p1-2, 2p

P698: CRISPR/CAS9 GENE EDITING IN HEMATOPOIETIC STEM CELLS TO MODEL CLONAL COMPETITION IN VIVO AND IN VITRO FOR GATA2 DEFICIENCY.

Authors: Romero‐Moya, Damia, Marin‐Bejar, Oskar, Distefano, Maximiliano, Pera, Joan, Castaño, Julio, Gonzalez, Jessica, Kotmayer, Lili, Bödör, Csaba, Català, Albert, W Wlodarski, Marcin, Bigas, Anna, Giorgetti, Alessandra

Source: HemaSphere; 2023 Supplement 3, Vol. 7, p1-2, 2p

A BTK p.C481S rezisztenciamutáció érzékeny kimutatása és monitorozása ibrutinib kezelés során terápia refrakter/relabált krónikus lymphocytás leukémiában. (Hungarian)

Authors: Kotmayer, Lili

Source: Orvosképzés; 2021, Vol. 96 Issue 1, p135-135, 1/2p

Quantitative Analysis and Monitoring of EZH2 Mutations Using Liquid Biopsy in Follicular Lymphoma.

Authors: Nagy, Ákos, Bátai, Bence, Balogh, Alexandra, Illés, Sarolta, Mikala, Gábor, Nagy, Noémi, Kiss, Laura, Kotmayer, Lili, Matolcsy, András, Alpár, Donát, Masszi, Tamás, Masszi, András, Bödör, Csaba

Source: Genes; Jul2020, Vol. 11 Issue 7, p785, 1p

Subject Terms: CIRCULATING tumor DNA, POSITRON emission tomography, NANOTECHNOLOGY, LYMPHOMAS, IRINOTECAN, GENE frequency, QUANTITATIVE research