Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

Authors: Weimer Jörg, Heidemann Simone, von Kaisenberg Constantin S, Grote Werner, Arnold Norbert, Bens Susanne, Caliebe Almuth

Source: Molecular Cytogenetics, Vol 4, Iss 1, p 28 (2011)

Subject Terms: chromosome microdissection, array-CGH, developmental delay, hypotonia, speech-delay, short stature, epicanthus, partial trisomy 7q21.2-7q31.31, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.molecularcytogenetics.org/content/4/1/28; https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/67a6600359cf4a6ca62317008757499d

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

Authors: Eckmann-Scholz Christel, Gesk Stefan, Nagel Inga, Haake Andrea, Bens Susanne, Heidemann Simone, Kautza Monika, Timke Christian, Siebert Reiner, Caliebe Almuth

Source: Molecular Cytogenetics, Vol 3, Iss 1, p 16 (2010)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://www.molecularcytogenetics.org/content/3/1/16; https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/e73bab59c4b44381978fa2dd3088c5f7

PI3K/AKT inhibitor BEZ-235 targets CCND2 and induces G1 arrest in breast implant-associated anaplastic large cell lymphoma

Authors: Nagel, Stefan, Fischer, Anja, Bens, Susanne, Hauer, Vivien, Pommerenke, Claudia, Uphoff, Cord C., Zaborski, Margarete, Siebert, Reiner, Quentmeier, Hilmar

Source: In Leukemia Research October 2023 133

SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome

Authors: Hasselblatt, Martin, Thomas, Christian, Federico, Aniello, Nemes, Karolina, Johann, Pascal D., Bison, Brigitte, Bens, Susanne, Dahlum, Sonja, Kordes, Uwe, Redlich, Antje, Lessel, Lienhard, Pajtler, Kristian W., Mawrin, Christian, Schüller, Ulrich, Nolte, Kay, Kramm, Christof M., Hinz, Felix, Sahm, Felix, Giannini, Caterina, Penkert, Judith, Kratz, Christian P., Pfister, Stefan M., Siebert, Reiner, Paulus, Werner, Kool, Marcel, Frühwald, Michael C.

Source: American journal of surgical pathology. 46(9):1277-1283

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168973090.0x000001&indx=1&recIds=ETOCvdc_100168973090.0x000001

T‐cell prolymphocytic leukemia is associated with deregulation of oncogenic microRNAs on transcriptional and epigenetic level

Authors: Patil, Paurnima, Hillebrecht, Sina, Chteinberg, Emil, López, Cristina, Toprak, Umut H., Seufert, Julian, Bernhart, Stephan H., Kretzmer, Helene, Bergmann, Anke K., Bens, Susanne, Högel, Josef, Müller, Annika, Jebaraj, Billy Michael, Schrader, Alexandra, Johansson, Patricia, Costa, Dolors, Schlesner, Matthias, Dürig, Jan, Herling, Marco, Campo, Elias, Stilgenbauer, Stephan, Wiehle, Laura, Siebert, Reiner

Source: Genes, chromosomes & cancer. 61(7):432-436

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100151283188.0x000001&indx=1&recIds=ETOCvdc_100151283188.0x000001

Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.

Authors: Fleischmann, Lara S, Nemes, Karolina, Glaser, Selina, Kouroukli, Alexandra G, Boros, Matej, Bens, Susanne, Dahlum, Sonja, Kretzmer, Helene, Oyen, Florian, Gerss, Joachim, Hasselblatt, Martin, Frühwald, Michael C, Siebert, Reiner

Source: Neuro-Oncology; Feb2025, Vol. 27 Issue 2, p533-544, 12p

MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration.

Authors: Di Stefano, Gioia, Fischer, Anja, Chteinberg, Emil, Bens, Susanne, Wagener, Rabea, Abramov, Dmitriy, Adam, Patrick, Bernhart, Stephan H., Borkhardt, Arndt, Burkhardt, Birgit, Del‐Val, Coral, Frühwald, Michael C., Guazzo, Raffaella, Hoell, Jessica I., Hummel, Michael, Horn, Heike, Klapper, Wolfram, Krugmann, Jens, Kurz, Katrin S., Lazzi, Stefano

Source: Genes, Chromosomes & Cancer; Jan2025, Vol. 64 Issue 1, p1-6, 6p

Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK)

Authors: Nemes, Karolina, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita, Hauser, Peter, Simon, Thorsten, Tippelt, Stephan, Woessmann, Wilhelm, Beck, Olaf, Flotho, Christian, Grigull, Lorenz, Driever, Pablo H., Schlegel, Paul-Gerhardt, Khurana, Claudia, Hering, Kathrin, Kolb, Reinhard, Leipold, Alfred, Abbink, Floor, Gil-Da-Costa, Maria J., Benesch, Martin, Kerl, Kornelius, Lowis, Stephen, Marques, Carmen H., Graf, Norbert, Nysom, Karsten, Vokuhl, Christian, Melchior, Patrick, Kröncke, Thomas, Schneppenheim, Reinhard, Kordes, Uwe, Gerss, Joachim, Siebert, Reiner, Furtwängler, Rhoikos, Frühwald, Michael C.

Source: In European Journal of Cancer January 2021 142:112-122

Molecular characterization of Burkitt lymphoma in the breast or ovary

Authors: Elgaafary, Shaymaa, López, Cristina, Nagel, Inga, Vater, Inga, Bens, Susanne, Szczepanowski, Monika, Aukema, Sietse M., Wagener, Rabea, Hopp, Lydia, Binder, Hans, de Leval, Laurence, Klapper, Wolfram, Siebert, Reiner

Source: Leukemia & lymphoma. 62(9):2120-2129

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132874505.0x000001&indx=1&recIds=ETOCvdc_100132874505.0x000001

Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor

Authors: Thomas, Christian, Oehl‐Huber, Kathrin, Bens, Susanne, Soschinski, Patrick, Koch, Arend, Nemes, Karolina, Oyen, Florian, Kordes, Uwe, Kool, Marcel, Frühwald, Michael C., Hasselblatt, Martin, Siebert, Reiner

Source: Genes, chromosomes & cancer. 60(8):586-590

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124262466.0x000001&indx=1&recIds=ETOCvdc_100124262466.0x000001

Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma

Authors: Thomas, Christian, Federico, Aniello, Sill, Martin, Bens, Susanne, Oyen, Florian, Nemes, Karolina, Johann, Pascal D., Hartmann, Christian, Hartmann, Wolfgang, Sumerauer, David, Paterno, Vincenzo, Samii, Amir, Kordes, Uwe, Siebert, Reiner, Frühwald, Michael C., Paulus, Werner, Kool, Marcel, Hasselblatt, Martin

Source: American journal of surgical pathology. 45(9):1228-1234

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185885803.0x000001&indx=1&recIds=ETOCvdc_100185885803.0x000001

A Diagnostic Approach to the Identification of Burkitt-like Lymphoma With 11q Aberration in Aggressive B-Cell Lymphomas

Authors: Horn, Heike, Kalmbach, Sabrina, Wagener, Rabea, Staiger, Annette M., Hüttl, Katrin, Mottok, Anja, Bens, Susanne, Traverse-Glehen, Alexandra, Fontaine, Juliette, Siebert, Reiner, Rosenwald, Andreas, Ott, German

Source: American journal of surgical pathology. 45(3):356-364

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185884946.0x000001&indx=1&recIds=ETOCvdc_100185884946.0x000001

The chromosomal translocation t(1;6)(p35.3;p25.2), recurrent in chronic lymphocytic leukaemia, leads to RCC1::IRF4 fusion.

Authors: Jayne, Sandrine, López, Cristina, Put, Natalie, Nagel, Inga, Lierman, Els, Penas, Eva Maria Murga, Michaux, Lucienne, Ahearne, Matthew J., Walter, Harriet S., Bens, Susanne, Drewes, Cosima, Szczepanowski, Monika, Schlesner, Matthias, Rosenstiel, Philip, Wlodarska, Iwona, Siebert, Reiner, Dyer, Martin J. S.

Source: British Journal of Haematology; Dec2024, Vol. 205 Issue 6, p2321-2326, 6p

Subject Terms: INTERFERON regulatory factors, CHROMOSOMAL translocation, CHRONIC leukemia, LYMPHOCYTIC leukemia, CHRONIC lymphocytic leukemia

Lack of SMARCB1 expression characterizes a subset of human and murine peripheral T-cell lymphomas.

Authors: Fischer, Anja, Albert, Thomas K., Moreno, Natalia, Interlandi, Marta, Mormann, Jana, Glaser, Selina, Patil, Paurnima, de Faria, Flavia W., Richter, Mathis, Verma, Archana, Balbach, Sebastian T., Wagener, Rabea, Bens, Susanne, Dahlum, Sonja, Göbel, Carolin, Münter, Daniel, Inserte, Clara, Graf, Monika, Kremer, Eva, Melcher, Viktoria

Source: Nature Communications; 10/3/2024, Vol. 15 Issue 1, p1-18, 18p

Subject Terms: T-cell lymphoma, HISTONE deacetylase inhibitors, DNA methylation, TUMOR microenvironment, FATIGUE (Physiology)

Reconstruction of rearranged T‐cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T‐cell prolymphocytic leukemia

Authors: Patil, Paurnima, Cieslak, Agata, Bernhart, Stephan H., Toprak, Umut H., Wagener, Rabea, López, Cristina, Wiehle, Laura, Bens, Susanne, Altmüller, Janine, Franitza, Marek, Scholz, Ingrid, Jayne, Sandrine, Ahearne, Matthew J., Scheffold, Annika, Jebaraj, Billy M. C., Schneider, Christof, Costa, Dolors, Braun, Till, Schrader, Alexandra, Campo, Elias, Dyer, Martin J. S., Nürnberg, Peter, Dürig, Jan, Johansson, Patricia, Böttcher, Sebastian, Schlesner, Matthias, Herling, Marco, Stilgenbauer, Stephan, Macintyre, Elizabeth, Siebert, Reiner

Source: Genes, chromosomes & cancer. 59(4):261-267

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110462137.0x000001&indx=1&recIds=ETOCvdc_100110462137.0x000001

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1− mantle cell lymphoma

Authors: Martín-Garcia, David ^*, Navarro, Alba ^*, Valdés-Mas, Rafael, Clot, Guillem, Gutiérrez-Abril, Jesús, Prieto, Miriam, Ribera-Cortada, Inmaculada, Woroniecka, Renata, Rymkiewicz, Grzegorz, Bens, Susanne, de Leval, Laurence, Rosenwald, Andreas, Ferry, Judith A., Hsi, Eric D., Fu, Kai, Delabie, Jan, Weisenburger, Dennis, de Jong, Daphne, Climent, Fina, O'Connor, Sheila J., Swerdlow, Steven H., Torrents, David, Beltran, Sergi, Espinet, Blanca, González-Farré, Blanca, Veloza, Luis, Costa, Dolors, Matutes, Estella, Siebert, Reiner, Ott, German, Quintanilla-Martinez, Leticia, Jaffe, Elaine S., López-Otín, Carlos, Salaverria, Itziar, Puente, Xose S., Campo, Elias, Beà, Sílvia ^*

Source: In Blood 28 February 2019 133(9):940-951

Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

Authors: Thomas, Christian, Knerlich-Lukoschus, Friederike, Reinhard, Harald, Johann, Pascal D., Sturm, Dominik, Sahm, Felix, Bens, Susanne, Vogt, Julia, Nemes, Karolina, Oyen, Florian, Kordes, Uwe, Siebert, Reiner, Schneppenheim, Reinhard, Messing-Jünger, Martina, Pietsch, Torsten, von Deimling, Andreas, Paulus, Werner, Pfister, Stefan M., Kool, Marcel, Frühwald, Michael C., Hasselblatt, Martin

Source: Acta neuropathologica. 137(5):847-850

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141525891.0x000001&indx=1&recIds=ETOCvdc_100141525891.0x000001

Non‐leukemic pediatric mixed phenotype acute leukemia/lymphoma: Genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma

Authors: Martin‐Guerrero, Idoia, Salaverria, Itziar, Burkhardt, Birgit, Chassagne‐Clement, Catherine, Szczepanowski, Monika, Bens, Susanne, Klapper, Wolfram, Zimmermann, Martin, Kabickova, Edita, Bertrand, Yves, Reiter, Alfred, Siebert, Reiner, Oschlies, Ilske

Source: Genes, chromosomes & cancer. 58(6):365-372

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083010941.0x000001&indx=1&recIds=ETOCvdc_100083010941.0x000001

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

Authors: Wagener, Rabea, Seufert, Julian, Raimondi, Francesco, Bens, Susanne, Kleinheinz, Kortine, Nagel, Inga, Altmüller, Janine, Thiele, Holger, Hübschmann, Daniel, Kohler, Christian W.

Source: Blood. 133(9):962-966

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN619190304&indx=1&recIds=ETOCRN619190304

Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma: A Study by the Lunenburg Lymphoma Biomarker Consortium

Authors: Rosenwald, Andreas, Bens, Susanne, Advani, Ranjana

Source: Journal of clinical oncology. 37(35):3359-3368

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN622417878&indx=1&recIds=ETOCRN622417878