Article
Oncology
Wilhelm Gerhard Dirks, Amanda Capes-Davis, Sonja Eberth, Silke Fahnrich, Joerg Wilting, Stefan Nagel, Laura Steenpass, Jurgen Becker
Summary: A human cell line of neuroblastic tissue thought to be lost was rediscovered and reclassified due to previous misclassification. After a long road of errors and confusion, authentic CHP-100 is now characterized as a type II EWSR1-FLI1 fusion model.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Oncology
Ioannis Panagopoulos, Ludmila Gorunova, Kristin Andersen, Ingvild Lobmaier, Sverre Heim
Summary: Genetic findings in a para-testicular leiomyoma from a 61-year-old man revealed abnormal karyotype and fusion genes, indicating potential cytogenetic characterization of leiomyomas through aberrations of 3p and fusion gene formations.
CANCER GENOMICS & PROTEOMICS
(2021)
Article
Pathology
Hitomi Ueno-Yokohata, Hajime Okita, Keiko Nakasato, Chikako Kiyotani, Motohiro Kato, Kimikazu Matsumoto, Nobutaka Kiyokawa, Atsuko Nakazawa, Takako Yoshioka
Summary: Two sets of multiplex PCR assays were developed to detect EWSR1-ETS and FUS-ETS fusion genes simultaneously, aiding in the rapid and accurate diagnosis of Ewing sarcoma. The second set detected the EWSR1-ERG fusion gene, which displayed pathologically atypical features.
DIAGNOSTIC PATHOLOGY
(2021)
Review
Oncology
Xiaoqian Liu, Jinyao Ning, Xuxiang Liu, Wing C. (John) Chan
Summary: Next-generation sequencing (NGS) has greatly advanced genomic studies on peripheral T-cell lymphoma (PTCL), revealing recurrent mutations and fusions in genes related to the TCR signaling pathway. This review summarizes the genetic alterations affecting TCR signaling in different subgroups of PTCL and discusses potential therapeutic agents targeting these mutations.
Article
Medicine, Research & Experimental
Ioannis Panagopoulos, Kristin Andersen, Marta Brunetti, Mudmila Gorunova, Marius Lund-iversen, Francesca Micci, Sverre Heim
Summary: Lipomas are benign tumors composed of mature fat cells. They often carry chromosome aberrations involving 12q14 resulting in rearrangements, deregulation, and generation of chimeras of the high-mobility group AT-hook 2 gene (HMGA2). This study reports the finding of t(9;12)(q33;q14) translocation in lipomas and describes its molecular consequences.
Article
Medicine, Research & Experimental
Ioannis Panagopoulos, Kristin Andersen, Ludmila Gorunova, Francesca Micci, Ben Davidson, Sverre Heim
Summary: This study reports a new t(9;12)(p22;q14) translocation resulting in the fusion of HMGA2 and BNC2 genes, further elucidating the relationship between genomic rearrangements of HMGA2 and tumorigenesis.
Article
Hematology
Kentaro Ohki, Nobutaka Kiyokawa, Satoru Watanabe, Hideto Iwafuchi, Astuko Nakazawa, Keisuke Ishiwata, Hiroko Ogata-Kawata, Kazuhiko Nakabayashi, Kohji Okamura, Fumiko Tanaka, Reiji Fukano, Kenichiro Hata, Tetsuya Mori, Akiko Moriya Saito, Yasuhide Hayashi, Takashi Taga, Masahiro Sekimizu, Ryoji Kobayashi
Summary: Through studying tumor samples from pediatric PTCL patients, previously unreported gene mutations were identified, indicating different molecular mechanisms and genetic alteration characteristics compared to adult patients. Additionally, the association between EBV infection and PTCL onset suggests differential genetic alterations based on EBV status.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Oncology
Ioannis Panagopoulos, Kristin Andersen, Martine Eilert-Olsen, Anne Gro Rognlien, Monica Cheng Munthe-Kaas, Francesca Micci, Sverre Heim
Summary: A study identified KMT2A-ELL and a novel ZNF56-KMT2A fusion genes in pediatric T-ALL patients. KMT2A-ELL fusion is a rare recurrent genetic event in T-ALL with uncertain prognostic implications, while the frequency and impact of ZNF56-KMT2A in T-ALL remain unknown.
CANCER GENOMICS & PROTEOMICS
(2021)
Article
Oncology
Ioannis Panagopoulos, Kristin Andersen, Ludmila Gorunova, Ben Davidson, Francesca Micci, Sverre Heim
Summary: This study found that deletions in chromosome 3q in uterine leiomyomas may be associated with a balanced translocation between chromosomes 2 and 3, resulting in a fusion between WWTR1 and PRKCE.
CANCER GENOMICS & PROTEOMICS
(2022)