Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

por Slaba, Katerina, Jezova, Marta, Pokorna, Petra, Palova, Hana, Tuckova, Jana, Papez, Jan, Prochazkova, Dagmar, Jabandziev, Petr, Slaby, Ondrej
Publicado 2023

Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report

por Papez, Jan, Starha, Jiri, Zerhau, Pavel, Pavlovska, Denisa, Jezova, Marta, Jurencak, Tomas, Slaba, Katerina, Sterba, Martin, Kerekes, Arpad, Merta, Tomas, Haluskova, Terezia, Palova, Hana, Slaby, Ondrej, Sterba, Jaroslav, Jabandziev, Petr
Publicado 2021

Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity

por Sterba, Martin, Pokorna, Petra, Faberova, Renata, Pinkova, Blanka, Skotakova, Jarmila, Seehofnerova, Anna, Blatny, Jan, Janigova, Lucia, Koskova, Olga, Palova, Hana, Mahdal, Michal, Pazourek, Lukas, Jabandziev, Petr, Slaby, Ondrej, Mudry, Peter, Sterba, Jaroslav
Publicado 2023

Minimal Residual Disease–Guided Intermittent Dosing in Patients With Cancer: Successful Treatment of Chemoresistant Anaplastic Large Cell Lymphoma Using Intermittent Lorlatinib Dos...

por Pokorna, Petra, Lakka Klement, Giannoula, Vasikova, Alzbeta, Kanderova, Veronika, Jezova, Marta, Noskova, Kristyna, Mudry, Peter, Kyr, Michal, Merta, Tomas, Bajciova, Viera, Krenova, Zdenka, Palova, Hana, Valik, Dalibor, Zdrazilova Dubska, Lenka, Slaby, Ondrej, Sterba, Jaroslav
Publicado 2022

DIPG-08. THE LANDSCAPE OF TUMOR CELL STATES AND SPATIAL ORGANIZATION IN H3-K27M MUTANT DIFFUSE MIDLINE GLIOMA ACROSS AGE AND LOCATION

por Liu, Ilon, Jiang, Li, Samuelsson, Erik, Salas, Sergio Marco, Beck, Alexander, Hack, Olivia, Jeong, Daeun, Shaw, McKenzie, Englinger, Bernhard, LaBelle, Jenna, Mire, Hafsa, Madlener, Sibylle, Mayr, Lisa, Quezada, Michael, Trissal, Maria, Panditharatna, Eshini, Ernst, Kati, Vogelzang, Jayne, Gatesman, Taylor, Halbert, Matthew, Palova, Hana, Vesela, Petra, Sterba, Jaroslav, Slaby, Ondrej, Geyeregger, Rene, Diaz, Aaron, Findlay, Izac, Dun, Matt, Resnick, Adam, Suva, Mario, Jones, David, Agnihotri, Sameer, Ostlin, Jessica, Koschmann, Carl, Haberler, Christine, Czech, Thomas, Slavc, Irene, Cotter, Jennifer, Ligon, Keith, Alexandrescu, Sanda, Yung, W K Alfred, Arrillaga-Romany, Isabel, Gojo, Johannes, Monje, Michelle, Nilsson, Mats, Filbin, Mariella
Publicado 2023

The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location

por Liu, Ilon, Jiang, Li, Samuelsson, Erik R., Marco Salas, Sergio, Beck, Alexander, Hack, Olivia A., Jeong, Daeun, Shaw, McKenzie L., Englinger, Bernhard, LaBelle, Jenna, Mire, Hafsa M., Madlener, Sibylle, Mayr, Lisa, Quezada, Michael A., Trissal, Maria, Panditharatna, Eshini, Ernst, Kati J., Vogelzang, Jayne, Gatesman, Taylor A., Halbert, Matthew E., Palova, Hana, Pokorna, Petra, Sterba, Jaroslav, Slaby, Ondrej, Geyeregger, Rene, Diaz, Aaron, Findlay, Izac J., Dun, Matthew D., Resnick, Adam, Suvà, Mario L., Jones, David T. W., Agnihotri, Sameer, Svedlund, Jessica, Koschmann, Carl, Haberler, Christine, Czech, Thomas, Slavc, Irene, Cotter, Jennifer A., Ligon, Keith L., Alexandrescu, Sanda, Yung, W. K. Alfred, Arrillaga-Romany, Isabel, Gojo, Johannes, Monje, Michelle, Nilsson, Mats, Filbin, Mariella G.
Publicado 2022

HGG-19. CLINICAL RESPONSE TO THE PDGFRA/KIT INHIBITOR AVAPRITINIB IN PEDIATRIC AND YOUNG ADULT HIGH-GRADE GLIOMA PATIENTS WITH H3K27M OR PDGFRA GENOMIC ALTERATIONS

por Trissal, Maria, Mayr, Lisa, Schwark, Kallen, LaBelle, Jenna, Kong, Seongbae, Furtner, Julia, Weiler-Wichtl, Liesa, Supko, Jeffrey, Rozowsky, Jacob, Hack, Olivia, Groves, Andrew, Marques, Joana, Leiss, Ulrike, Rosenmayr, Verena, Dubois, Frank, Greenwald, Noah F, Madlener, Sibylle, Guntner, Armin Sebastian, Pálová, Hana, Stepien, Natalia, Lötsch-Gojo, Daniela, Dorfer, Christian, Dieckmann, Karen, Peyrl, Andreas, Azizi, Amadeo A, Baumgartner, Alicia, Slabý, Ondřej, Pokorná, Petra, Bandopadhayay, Pratiti, Rameen_Beroukhim@dfci.harvard.edu Beroukhim, Rameen Beroukhim, Ligon, Keith L, Kramm, Christof M, Bronsema, Annika, Bailey, Simon, Stucklin, Ana Guerreiro, Mueller, Sabine Mueller, Jones, David T W, Jäger, Natalie, Mullauer, Leonhard, Haberler, Christine, Kumar-Sinha, Chandan, Chinnaiyan, Arul, Mody, Rajen, Sterba.Jaroslav@fnbrno.cz Štěrba, Jaroslav Štěrba, Skrypek, Mary, Martinez, Nina, Bowers, Daniel C, Koschmann, Carl Koschmann, Gojo, Johannes, Filbin, Mariella
Publicado 2023