Article
Oncology
Rofieda R. Alwaqfi, Megan Samuelson, Natalya N. Guseva, Michelle Ouyang, Aaron D. Bossler, Deqin Ma
Summary: Recurrent GLI1 gene fusions have been described in a subset of soft tissue tumors, with PTCH1-GLI1 fusion found in a primary ovarian tumor for the first time in a 54-year-old female patient. The detection of this fusion led to a revised pathologic diagnosis and a change in patient management, resulting in stable disease 49 months post tyrosine kinase inhibitor therapy.
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(2021)
Article
Multidisciplinary Sciences
Felice Pepe, Laura Z. Rassenti, Yuri Pekarsky, Jadwiga Labanowska, Tatsuya Nakamura, Giovanni Nigita, Thomas J. Kipps, Veronica Balatti, Carlo M. Croce
Summary: Chronic lymphocytic leukemia (CLL) is a common adult leukemia characterized by chromosomal aberrations. This study found that some CLL patients have undetected microdeletions, which are closely associated with chromosomal alterations in cancer. These findings may have clinical relevance for successful stratification of patients.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Cell Biology
Davide Vecchiotti, Daniela Verzella, Mauro Di Vito Nolfi, Daniel D'Andrea, Irene Flati, Barbara Di Francesco, Jessica Cornice, Edoardo Alesse, Daria Capece, Francesca Zazzeroni
Summary: The NF-kappa B-SHh-GLI1 axis plays an important role in advanced prostate cancer and its elevation is associated with worse prognosis, suggesting it could be a target for treating aggressive prostate cancer.
Article
Ophthalmology
Pengbo Zhang, Xibo Zhang, Fen Xu, Wangdong Xu, Huang Zhu
Summary: This study found that IL-12, IL-27, and IL-35 may serve as biomarkers for TAO, and the levels of IL-27 and IL-35 were elevated in TAO patients while IL-12 levels were decreased.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Multidisciplinary Sciences
Vivian A. Guedes, Rael T. Lange, Sara M. Lippa, Chen Lai, Kisha Greer, Sara Mithani, Christina Devoto, Katie A. Edwards, Chelsea L. Wagner, Carina A. Martin, Angela E. Driscoll, Megan M. Wright, Kelly C. Gillow, Samantha M. Baschenis, Tracey A. Brickell, Louis M. French, Jessica M. Gill
Summary: This study investigates the levels of neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in blood samples of patients with traumatic brain injury (TBI). The results show that NfL levels were higher in patients with more severe TBI within one year after the injury. NfL could serve as a potential diagnostic biomarker for TBI severity.
SCIENTIFIC REPORTS
(2022)
Review
Pathology
Natalie Klubickova, Zdenek Kinkor, Michael Michal, Martina Baneckova, Veronika Hajkova, Jaroslav Michalek, Richard Pink, Zdenek Dvorak, Michal Michal, Ilmo Leivo, Alena Skalova
Summary: This study reports a rare epithelioid mesenchymal tumor of the palate with S100 and D2-40 positivity and a PTCH1-GLI1 fusion. Due to the unique growth pattern and morphological features of the tumor, differential diagnosis from other salivary gland epithelial tumors is essential.
HEAD & NECK PATHOLOGY
(2022)
Article
Oncology
Wibowo Arindrarto, Daniel M. Borras, Ruben A. L. de Groen, Redmar R. van den Berg, Irene J. Locher, Saskia A. M. E. van Diessen, Rosalie van der Holst, Edith D. van der Meijden, M. Willy Honders, Rick H. de Leeuw, Wina Verlaat, Inge Jedema, Wilma G. M. Kroes, Jeroen Knijnenburg, Tom van Wezel, Joost S. P. Vermaat, Peter J. M. Valk, Bart Janssen, Peter de Knijff, Cornelis A. M. van Bergen, Erik B. van den Akker, Peter A. C. 't Hoen, Szymon M. Kielbasa, Jeroen F. J. Laros, Marieke Griffioen, Hendrik Veelken
Summary: The study established whole transcriptome RNA sequencing as a comprehensive platform for AML diagnostics by developing HAMLET, a bioinformatics pipeline that accurately detects fusion genes, small variants, and tandem duplications. HAMLET has the potential to provide accurate diagnostic information relevant for AML classification, risk assessment, and targeted therapy on a single technology platform.
Editorial Material
Hematology
Paul G. Kemps, Arjen H. G. Cleven, Tom van Wezel, Ronald van Eijk, Freek J. Bot, Hendrik Veelken, Peter van Balen, Jean-Louis H. Kerkhoffs
AMERICAN JOURNAL OF HEMATOLOGY
(2020)
Article
Hematology
Karina Tozatto-Maio, Margareth Afonso Torres, Neifi Hassan Saloum Degaide, Juliana Fernandes Cardoso, Fernanda Volt, Ana Cristina Silva Pinto, Danielli Oliveira, Hanadi Elayoubi, Simone Kashima, Pascale Loiseau, Hendrik Veelken, Alina Ferster, Barbara Cappelli, Evandra Strazza Rodrigues, Graziana Maria Scigliuolo, Chantal Kenzey, Annalisa Ruggeri, Vanderson Rocha, Belinda Pinto Simoes, Ryad Tamouza, Eliane Gluckman
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
(2020)
Letter
Immunology
Marvyn T. Koning, Esther M. Vletter, Rik Rademaker, Rochelle D. Vergroesen, Ignis J. M. Trollmann, Paul Parren, Cornelis A. M. van Bergen, Hans U. Scherer, Szymon M. Kielbasa, Rene E. M. Toes, Hendrik Veelken
EUROPEAN JOURNAL OF IMMUNOLOGY
(2020)
Article
Cell & Tissue Engineering
Marthe C. J. Roex, Charissa Wijnands, Sabrina A. J. Veld, Esther van Egmond, Lisette Bogers, Jaap J. Zwaginga, Tanja Netelenbos, Peter A. von dem Borne, Hendrik Veelken, Constantijn J. M. Halkes, J. H. Frederik Falkenburg, Inge Jedema
Summary: The study investigated the effect of in vitro incubation with 20 mg alemtuzumab on the composition of grafts before infusion and its predictive value for T-cell reconstitution and GVHD after TCD alloSCT. The findings suggested that alemtuzumab led to efficient depletion of specific T-cell subsets, but the depletion efficiency and absolute numbers did not correlate with T-cell reconstitution or GVHD development postalloSCT.
Article
Immunology
Peter van Balen, Inge Jedema, Marleen M. van Loenen, Renate de Boer, H. M. van Egmond, Renate S. Hagedoorn, Conny Hoogstaten, Sabrina A. J. Veld, Lois Hageman, P. A. G. van Liempt, Jaap-Jan Zwaginga, Pauline Meij, H. Veelken, J. H. F. Falkenburg, Mirjam H. M. Heemskerk
FRONTIERS IN IMMUNOLOGY
(2020)
Article
Biophysics
E. Domingo-Domenech, R. F. Duarte, A. Boumedil, F. Onida, I. Gabriel, H. Finel, W. Arcese, P. Browne, D. Beelen, G. Kobbe, H. Veelken, R. Arranz, H. Greinix, S. Lenhoff, X. Poire, J. M. Ribera, J. Thompson, T. Zuckerman, G. J. Mufti, A. Cortelezzi, E. Olavarria, P. Dreger, A. Sureda, S. Montoto
Summary: This study presents an updated analysis on outcomes of allo-HSCT for MF and SS, with a focus on the impact of unrelated donors. Results showed a 5-year overall survival rate of 38% and a progression-free survival rate of 26%. The study identified advanced-phase disease and the use of URDs as independent adverse prognostic factors for survival outcomes.
BONE MARROW TRANSPLANTATION
(2021)
Editorial Material
Oncology
Hans Gelderblom, Hendrik Veelken, Anne M. Stiggelbout
Article
Hematology
Bob Lowenberg, Thomas Pabst, Johan Maertens, Patrycja Gradowska, Bart J. Biemond, Olivier Spertini, Edo Vellenga, Laimonas Griskevicius, Lidwine W. Tick, Mojca Jongen-Lavrencic, Marinus van Marwijk Kooy, Marie-Christiane Vekemans, Walter J. F. M. van der Velden, Berna Beverloo, Lucienne Michaux, Carlos Graux, Dries Deeren, Okke de Weerdt, Joost W. J. van Esser, Mario Bargetzi, Saskia K. Klein, Alain Gadisseur, Peter E. Westerweel, Hendrik Veelken, Michael Gregor, Tobias Silzle, Danielle Van Lammeren-Venema, Ine Moors, Dimitri A. Breems, Mels Hoogendoorn, Marie-Cecile J. C. Legdeur, Thomas Fischer, Juergen Kuball, Jan Cornelissen, Kimmo Porkka, Gunnar Juliusson, Peter Meyer, Martin Hoglund, Bjorn T. Gjertsen, Jeroen J. W. M. Janssen, Gerwin Huls, Jakob Passweg, Jacqueline Cloos, Peter J. M. Valk, Catharina H. M. J. van Elssen, Markus G. Manz, Yngvar Floisand, Gert J. Ossenkoppele
Summary: The study compared two treatment regimens for AML and found that lenalidomide did not show significant benefit in overall outcome, but may have some advantage in AML patients with SRSF2 mutation. Additionally, the use of an MRD-guided treatment approach resulted in more favorable survival estimates compared to previous studies with similar regimens.
Article
Genetics & Heredity
Shadi Darvish Shafighi, Szymon M. Kielbasa, Julieta Sepulveda-Yanez, Ramin Monajemi, Davy Cats, Hailiang Mei, Roberta Menafra, Susan Kloet, Hendrik Veelken, Cornelis A. M. van Bergen, Ewa Szczurek
Summary: CACTUS is a probabilistic model that integrates whole exome, single-cell RNA, and B cell receptor sequencing data to map single cells to imperfect genotypes of tumor clones. The integration of independent measurements increases model certainty and improves performance in drawing genotype-to-phenotype maps in tumors.
Article
Biophysics
Malgorzata Mikulska, Gloria Tridello, Jennifer Hoek, Lidia Gil, Lucrecia Yanez, Helene Labussiere-Wallet, Jakob Passweg, Alienor Xhaard, Pietro Pioltelli, Denis Caillot, Gerard Michel, Hendrik Veelken, Didier Blaise, Benedetto Bruno, Carmen Botella Garcia, Maija Itala-Remes, Charles Crawley, Jean Henri Bourhis, Ain Kaare, William Arcese, Rocio Parody, Jan Styczynski
Summary: This study examined cases of legionellosis post-hematopoietic stem cell transplant (HSCT) and found that allogeneic HSCT and recent other infections were predictors of legionellosis, while female sex, early legionellosis, and the south-eastern geographical region were predictors of non-relapse mortality. Legionellosis is a rare complication after HSCT, occurring frequently within 30 days post-HSCT and associated with high mortality.
BONE MARROW TRANSPLANTATION
(2021)
Article
Hematology
Ruben A. L. de Groen, Ronald van Eijk, Stefan Bohringer, Tom van Wezel, Richard Raghoo, Dina Ruano, Patty M. Jansen, Inge Briaire-de Bruijn, Fleur A. de Groot, Karin Kleiverda, Liane Te Boome, Valeska Terpstra, Henriette Levenga, Alina Nicolae, Eduardus F. M. Posthuma, Isabelle Focke-Snieders, Lizan Hardi, Wietske C. E. den Hartog, Lara H. Bohmer, Pancras C. W. Hogendoorn, Anke van den Berg, Arjan Diepstra, Marcel Nijland, Pieternella J. Lugtenburg, Marie Jose Kersten, Steven T. Pals, Hendrik Veelken, Judith V. M. G. Bovee, Arjen H. G. Cleven, Joost S. P. Vermaat
Summary: Primary bone diffuse large B-cell lymphoma (PB-DLBCL) is characterized by a distinct genetic background, phenotype, and mutational profile compared to (extra)nodal non-osseous DLBCL-GCB. Patients with PB-DLBCL have a superior prognosis compared to NO-DLBCL-GCB. This study suggests that PB-DLBCL represents a unique entity within the spectrum of diffuse large B-cell lymphomas with potential for targeted therapies.
Article
Biophysics
Christoph Schmid, Myriam Labopin, Nicolaas Schaap, Hendrik Veelken, Arne Brecht, Michael Stadler, Juergen Finke, Frederic Baron, Matthew Collin, Gesine Bug, Per Ljungman, Didier Blaise, Johanna Tischer, Adrian Bloor, Aleksander Kulagin, Sebastian Giebel, Norbert-Claude Gorin, Jordi Esteve, Fabio Ciceri, Bipin Savani, Arnon Nagler, Mohamad Mohty
Summary: This study analyzed 318 acute leukemia patients who received DLI after alloSCT, showing that preemptive DLI was effective in reducing MRD and increasing chimerism, thus improving survival rates for patients.
BONE MARROW TRANSPLANTATION
(2022)
Article
Biochemistry & Molecular Biology
Julieta H. Sepulveda-Yanez, Diego Alvarez-Saravia, Jose Fernandez-Goycoolea, Jacqueline Aldridge, Cornelis A. M. van Bergen, Ward Posthuma, Roberto Uribe-Paredes, Hendrik Veelken, Marcelo A. Navarrete
Summary: The study revealed that both follicular lymphoma (FL) and chronic lymphocytic leukemia (CLL) are influenced by AID activity, but the final outcome of AID-induced mutagenesis varies between these lymphomas depending on chromatin compartmentalization and mutations in DNA repair pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Dyantha I. van der Lee, Georgia Koutsoumpli, Rogier M. Reijmers, M. Willy Honders, Rob C. M. de Jong, Dennis F. G. Remst, Tassilo L. A. Wachsmann, Renate S. Hagedoorn, Kees L. M. C. Franken, Michel G. D. Kester, Karl J. Harber, Lisanne M. Roelofsen, Annemiek M. Schouten, Arend Mulder, Jan W. Drijfhout, Hendrik Veelken, Peter A. van Veelen, Mirjam H. M. Heemskerk, J. H. Frederik Falkenburg, Marieke Griffioen
Summary: AML is an aggressive hematological malignancy with a poor prognosis, requiring new and effective therapies; approximately 30-35% of AML cases have a frameshift mutation in the dNPM1 gene, potentially creating targets for immunotherapy.