Article
Immunology
Dotan Hoffman, Yaara Tevet, Sebastien Trzebanski, Gili Rosenberg, Leia Vainman, Aryeh Solomon, Shelly Hen-Avivi, Noa Bossel Ben-Moshe, Roi Avraham
Summary: The study identified two phases of bacterial control in the spleen during early systemic Salmonella Typhimurium infection in mice, with tissue-resident red-pulp macrophages and CD9-expressing macrophages playing key roles. CD9(+) macrophages induce pathways for detoxicating oxidized lipids that may benefit intracellular S.Tm.
Article
Oncology
Thomas Albrecht, Benjamin Goeppert, Fritz Brinkmann, Alphonse Charbel, Qiangnu Zhang, Johannes Schreck, Nina Wilhelm, Stephan Singer, Bruno C. Koehler, Christoph Springfeld, Arianeb Mehrabi, Peter Schirmacher, Anja A. Kuehl, Monika N. Vogel, Holger Jansen, Nalan Utku, Stephanie Roessler
Summary: Cholangiocarcinoma (CCA) is a heterogeneous malignancy with poor prognosis, in need of innovative therapies due to limited treatment options. Research shows that TIRC7(+) immune cells are present in CCA patients and are associated with a favorable prognosis in intrahepatic CCA.
Article
Biochemical Research Methods
Huat Chye Lim, John D. Gordan
Summary: This study found that HCC tumors with measurable HBV activity are associated with specific clinical and genomic characteristics. These findings have implications for future research in HCC as well as computational genomics efforts in other cancer types.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Oncology
Kewei Wang, Zixi Li, Ying Xuan, Yong Zhao, Chao Deng, Meidan Wang, Chenjun Xie, Fenglai Yuan, Qingfeng Pang, Wenjun Mao, Dongyan Cai, Zhangfeng Zhong, Jie Mei
Summary: This study examined the impact of NFE2L2 mutations on the response to ICIs in NSCLC and other cancers. The results showed that Nrf2-activating mutations were associated with higher tumor mutational burden and shorter overall survival in pan-cancer patients. However, these mutations did not affect the response to ICIs treatment. Patients with NFE2L2 mutations had better objective responses to ICIs in NSCLC and other cancer cohorts.
CANCER CELL INTERNATIONAL
(2023)
Article
Hematology
Baptiste Gailllard, Pascale Cornillet-Lefebvre, Quoc-Hung Le, Karim Maloum, Melanie Pannetier, Carinne Lecoq-Lafon, Beatrice Grange, Ludovic Jondreville, Lucienne Michaux, Nathalie Nadal, Antoine Ittel, Isabelle Luquet, Stephanie Struski, Christine Lefebvre, Jean-Baptiste Gaillard, Marina Lafage-Pochitaloff, Estelle Balducci, Dominique Penther, Carole Barin, Marie Agnes Collonge-Rame, Melanie Jimenez-Poquet, Steven Richebourg, Pierre Lemaire, Sabine Defasque, Isabelle Radford-Weiss, Audrey Bidet, Santos A. Susin, Florence Nguyen-Khac, Elise Chapiro
Summary: Translocations involving the CDK6 gene are a rare but recurrent abnormality in B-cell neoplasms, mainly manifesting as chronic lymphocytic leukaemia, monoclonal B-cell lymphocytosis, or small lymphocytic lymphoma. The most common subtype affected is marginal zone lymphoma, with the majority of cases showing distinctive features.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Hematology
Giorgia Chiodin, Joel D. Allen, Dean J. Bryant, Philip Rock, Enrica A. Martino, Beatriz Valle-Argos, Patrick J. Duriez, Yasunori Watanabe, Isla Henderson, James S. Blachly, Katy J. McCann, Jonathan C. Strefford, Graham Packham, Teunis B. H. Geijtenbeek, Carl G. Figdor, George W. Wright, Louis M. Staudt, Richard Burack, Thomas A. Bowden, Max Crispin, Freda K. Stevenson, Francesco Forconi
Summary: The glycosylation of the Ig variable region is a rare feature associated with follicular lymphoma, and some DLBCLs acquire N-glycosylation sites selectively in the CDRs of the antigen-binding sites, particularly in the EZB subtype; this contrasts with the activated B-cell-like DLBCL Ig. The acquisition of these sites is associated with mutations of epigenetic regulators and BCL2 translocations, and the oligomannosylated tumor Ig can be a potential therapeutic target against DC-SIGN-expressing M2-polarized macrophages.
Article
Oncology
Philipp Sievers, Martin Sill, Daniel Schrimpf, Damian Stichel, David E. Reuss, Dominik Sturm, Jurgen Hench, Stephan Frank, Lenka Krskova, Ales Vicha, Michal Zapotocky, Brigitte Bison, David Castel, Jacques Grill, Marie-Anne Debily, Patrick N. Harter, Matija Snuderl, Christof M. Kramm, Guido Reifenberger, Andrey Korshunov, Nada Jabado, Pieter Wesseling, Wolfgang Wick, David A. Solomon, Arie Perry, Thomas S. Jacques, Chris Jones, Olaf Witt, Stefan M. Pfister, Andreas von Deimling, David T. W. Jones, Felix Sahm
Summary: A study identified a specific molecular class of pediatric-type malignant gliomas with EGFR amplifications or mutations, as well as H3.1 or H3.3 K27M mutations, all showing loss of H3K27me3 staining. While some tumors exhibited a bithalamic growth pattern, a significant proportion occurred in other locations.
Article
Oncology
Ilyas Yambayev, Travis B. Sullivan, Kimberly M. Rieger-Christ, Elliot L. Servais, Cameron T. Stock, Syed M. Quadri, Jacob M. Sands, Kei Suzuki, Eric J. Burks
Summary: This study analyzed the pathological features and survival outcomes of AJCC 8th edition stage I/0 lung adenocarcinomas. Vascular invasion was found to be the most significant factor associated with recurrence and disease-specific mortality. Angioinvasive adenocarcinomas showed a higher risk and were more common in smoking patients, males, and black race.
Article
Oncology
Gehong Dong, Xuxiang Liu, Lifu Wang, Wenjuan Yin, Alyssa Bouska, Qiang Gong, Kunal Shetty, Lu Chen, Sunandini Sharma, Jibin Zhang, Carmen Lome-Maldonado, Leticia Quintanilla-Martinez, Yuping Li, Joo Y. Song, Wenyan Zhang, Yunfei Shi, Jinhui Wang, Lingbo Kong, Xiwei Wu, Jingwen Wang, Hong-Gang Liu, Lingfei Kong, Wenyong Sun, Weiping Liu, Lili Wang, Timothy W. McKeithan, Javeed Iqbal, Wing C. Chan
Summary: This study provides a comprehensive genomic analysis and clinical study of extra-nodal NK/T-cell lymphoma, nasal type (ENKTCL). It identifies factors associated with overall survival, reveals frequent oncogenic activation of the JAK/STAT3 pathway, and identifies genetic clusters associated with different clinical outcomes. The study also highlights a novel functional cooperation between activating STAT3 mutations and loss of the TSG, PRDM1.
Article
Pathology
Justine A. Barletta, Steven D. Gilday, Michelle Afkhami, Diana Bell, Theresa Bocklage, Pierre Boisselier, Nicole G. Chau, Nicole A. Cipriani, Valerie Costes-Martineau, Ronald A. Ghossein, Hans J. Hertzler, Alan M. Kramer, Sewanti Limaye, Carlos A. Lopez, Tony L. Ng, Annikka Weissferdt, Bin Xu, Songlin Zhang, Christopher A. French
Summary: In this study of 14 cases of NUT carcinoma of the thyroid, we found that the morphological types of NUT tumors varied, with some cases resembling other thyroid tumors. Immunohistochemistry results showed a high positivity rate for NUT, with differences in positivity for other markers in comparison to tumors with a non-NUT morphology. We also found a high rate of NSD3-NUTM1 fusion and a relatively protracted clinical course compared to other thyroid NUT carcinomas.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Oncology
Laura M. Warmke, Wei-Lien Wang, Daniel Baumhoer, Vanghelita Andrei, Baptiste Ameline, Michael L. Baker, Darcy A. Kerr
Summary: Extraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma that predominantly arises in deep soft tissue. It is characterized by a well-circumscribed, multilobular tumor composed of spindle-to-ovoid primitive mesenchymal cells with eosinophilic cytoplasm in a myxoid matrix. EMC with TAF15::NR4A3 fusion can have a morphologically distinct biphasic appearance and mimic myoepithelial tumors. Molecular testing, including DNA methylation profiling, is helpful in confirming the diagnosis and expanding the morphologic spectrum of EMC.
GENES CHROMOSOMES & CANCER
(2023)
Article
Oncology
Marco Magistri, Lanie E. Happ, Jeremy Ramdial, XiaoQing Lu, Vasileios Stathias, Kranthi Kunkalla, Nitin Agarwal, Xiaoyu Jiang, Stephan C. Schuerer, Sander R. Dubovy, Jennifer R. Chapman, Francisco Vega, Sandeep Dave, Izidore S. Lossos
Summary: Using whole-exome sequencing, the study identified common mutations in CABIN1, RHOA, TBL1XR1, CREBBP, and TNFAIP3 in ocular adnexa marginal zone lymphoma. Candidate cancer driver genes are clustered in B-cell receptor, NF-& kappa;B, NOTCH, and NFAT signaling pathways. CABIN1, a commonly altered gene, may play a role in the molecular pathogenesis of OAMZL.
CANCER RESEARCH COMMUNICATIONS
(2021)
Letter
Oncology
Loredana Pettine, Marta Bortolotti, Bruno Fattizzo, Matteo C. Da Via, Dario Consonni, Alessandra Pompa, Niccolo Bolli, Luca Baldini
HEMATOLOGICAL ONCOLOGY
(2023)
Article
Oncology
Wei Guo, Qilin Huai, Bolun Zhou, Lei Guo, Li Sun, Xuemin Xue, Fengwei Tan, Qi Xue, Shugeng Gao, Jie He
Summary: This study investigated the role of CXCR4 in predicting immunotherapy response and prognosis in non-small cell lung cancer (NSCLC). The results showed that high CXCR4 expression was associated with poor prognosis and a higher response rate to immunotherapy in NSCLC patients. The study also identified immune prognostic signatures based on CXCR4-related immunomodulators, which showed good performance in predicting patient prognosis in NSCLC.
CANCER IMMUNOLOGY IMMUNOTHERAPY
(2023)
Article
Oncology
Larissa Haertle, Santiago Barrio, Umair Munawar, Seungbin Han, Xiang Zhou, Michal Simicek, Cornelia Vogt, Marietta Truger, Rafael Alonso Fernandez, Maximilian Steinhardt, Julia Weingart, Renata Snaurova, Silvia Nerreter, Eva Teufel, Andoni Garitano-Trojaola, Matteo Da Via, Yanira Ruiz-Heredia, Andreas Rosenwald, Niccolo Bolli, Roman Hajek, Peter Raab, Marc S. Raab, Niels Weinhold, Claudia Haferlach, Thomas Haaf, Joaquin Martinez-Lopez, Hermann Einsele, Leo Rasche, K. Martin Kortuem
Summary: This study found that multiple myeloma cells acquire PSMD5 promoter hypermethylation under the selective pressure of proteasome inhibitor treatment, leading to the silencing of PSMD5 gene expression. This mechanism increases the cell's proteolytic capacity and contributes to proteasome inhibitor tolerance in multiple myeloma.
CLINICAL CANCER RESEARCH
(2023)
Article
Hematology
Elisa Taiana, Cecilia Bandini, Vanessa Katia Favasuli, Domenica Ronchetti, Ilaria Silvestris, Noemi Puccio, Katia Todoerti, Silvia Erratico, Domenica Giannandrea, Niccolo Bolli, Nicola Amodio, Alessia Ciarrocchi, Raffaella Chiaramonte, Yvan Torrente, Roberto Piva, Antonino Neri
Summary: Long non-coding RNA NEAT1 is deregulated in multiple myeloma patients and its silencing negatively affects MM cell proliferation and viability, indicating a role in DNA damage repair. NEAT1 overexpression provides oncogenic and prosurvival advantages, especially in stressful conditions like nutrient starvation or hypoxia. NEAT1 is involved in various DNA damage repair processes through the regulation of essential PS proteins and the molecular axis of ATM and DNA-PK kinase proteins.
Article
Surgery
Xuemin Xue, Qi Sun, Dongxian Jiang, Xinran Wang, Yong Liu, Changyuan Guo, Linxiu Liu, Na Cheng, Guiqi Wang, Yueping Liu, Yingyong Hou, Xiangshan Fan, Liyan Xue
Summary: Additional surgical resection is strongly recommended for high-risk group patients, while it does not generate significant benefit for clearance of lymph node metastasis and may harm overall survival in low-risk group patients.
SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES
(2023)
Article
Oncology
Yan Li, Linxiu Liu, Yi Pan, Fang Fang, Tongji Xie, Na Cheng, Changyuan Guo, Xuemin Xue, Hua Zeng, Liyan Xue
Summary: Esophageal basaloid squamous cell carcinoma (bSCC) is a subtype of squamous cell carcinoma (SCC) with distinct molecular characteristics and immune features compared to common SCC (cSCC). Our study confirmed the common genetically-clonal origin of bSCC and cSCC but found no specific genetic mutations. We identified a useful biomarker, SFRP1, for diagnosing bSCC. Treatment response analysis showed that immunotherapy may not be effective for most bSCCs.
JOURNAL OF PATHOLOGY
(2023)
Article
Oncology
Solange De Noon, Robert Piggott, Jamie Trotman, John A. Tadross, Matthew Fittall, Debbie Hughes, Hongtao Ye, Emani Munasinghe, Matthew Murray, Roberto Tirabosco, Fernanda Amary, Nicholas Coleman, James Watkins, Michael Hubank, Patrick Tarpey, Sam Behjati, Adrienne M. Flanagan
Summary: The FOS gene family is involved in tumourigenesis, especially in mesenchymal tumours. Overexpression of FOSL1 is characteristic of the rare fibrous tumour desmoplastic fibroblastoma. A novel FOSL1 rearrangement was discovered in desmoplastic fibroblastoma using whole-genome and targeted RNA sequencing. FOSL1 and FOS rearrangements were found to be recurrent events in desmoplastic fibroblastoma, providing a useful diagnostic tool and expanding the spectrum of tumours driven by FOS gene family alterations.
JOURNAL OF PATHOLOGY
(2023)
Article
Pathology
Come Sesboue, Jean Galtier, Marie Jeanneau, Annick Chauvel, Elodie Laharanne, Samuel Amintas, Jean-Philippe Merlio, Krimo Bouabdallah, Francois-Xavier Gros, Laurence de Leval, Audrey Gros, Marie Parrens
Summary: Distinguishing FL from NMZL can be difficult in cases with unusual morphologic and phenotypic features and without characteristic cytogenetic rearrangements. Ancillary techniques, such as FISH, RT-MLPA, and NGS, can provide diagnostic contributions for unclassified tumors. In this study, FISH detected 1p36 deletion in some FLs and unclassified tumors, while RT-MLPA signatures were associated with FL and NMZL subtypes. Combining RT-MLPA and NGS findings successfully discriminated most unclassified tumors towards FL or NMZL diagnosis.
Article
Pathology
Rita Sarkis, Olivier Burri, Claire Royer-Chardon, Frederica Schyrr, Sophie Blum, Mariangela Costanza, Stephane Cherix, Nathalie Piazzon, Carmen Barcena, Bettina Bisig, Valentina Nardi, Rossella Sarro, Giovanna Ambrosini, Martin Weigert, Olivier Spertini, Sabine Blum, Bart Deplancke, Arne Seitz, Laurence de Leval, Olaia Naveiras
Summary: Bone marrow cellularity assessment is crucial in evaluating bone marrow biopsies for hematologic and nonhematologic disorders. MarrowQuant 2.0 is an efficient digital hematopathology workflow that accurately quantifies the cellularity of human bone marrow biopsies by segmenting different compartments. This tool can be used for clinical research to explore biomarkers related to bone marrow stromal components.
Review
Pathology
Laurence de Leval, Andrew L. Feldman, Stefano Pileri, Shigeo Nakamura, Philippe Gaulard
Summary: Non-cutaneous extranodal NK/T cell lymphoproliferations are a rare group of tumors that primarily occur in the gastrointestinal tract, nasal area, spleen, and liver. Accurate diagnosis is crucial due to the diverse clinical presentations and similarities with other diseases.
Article
Pathology
Xuemin Xue, Libing Fu, Tian Qiu, Zheng Cao, Xiaojun Wang, Wei Rao, Yiyang Luo, Lejian He, Xiaoli Feng
Summary: This study reported a rare case of pediatric high-grade B-cell lymphoma with loss of B-cell markers and CD45. Through molecular analysis and genetic sequencing, it was confirmed that the tumor had the same B-cell lineage as the patient's previous Burkitt's lymphoma, and related mutations were found. The final diagnosis was pediatric HGBL.
Editorial Material
Medicine, General & Internal
George Vassiliou
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Multidisciplinary Sciences
Jose Guilherme de Almeida, Emma Gudgin, Martin Besser, William G. Dunn, Jonathan Cooper, Torsten Haferlach, George S. Vassiliou, Moritz Gerstung
Summary: Hematological diseases involve changes in the abundance and morphology of blood cells. Myelodysplastic syndromes (MDS) are blood cancers characterized by abnormal development of hematopoietic cells. The diagnosis of MDS requires cytomorphology analysis of bone marrow smears and complementary tests. Haemorasis, a computational method, can detect and characterize white blood cells and red blood cells in blood samples and has the potential for automated diagnosis.
NATURE COMMUNICATIONS
(2023)
Article
Pathology
James A. A. Watkins, Helen Hatcher, Shalini Malhotra, Furrat Amen, Jonathan Bruty, Jamie Trotman, Patrick Tarpey, John A. A. Tadross
Summary: We report a spindle cell tumour in the sinonasal area that cannot be classified using current histopathological criteria. This tumour consists of cytologically bland epithelioid spindle cells and a rich vasculature, and lacks expression of specific markers. Molecular analysis revealed an activating insertion/deletion in exon 12 of the PDGFRA gene, which has not been previously described in similar tumours at this site.
HEAD & NECK PATHOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Natalia Platonova, Elisa Lazzari, Michela Colombo, Monica Falleni, Delfina Tosi, Domenica Giannandrea, Valentina Citro, Lavinia Casati, Domenica Ronchetti, Niccolo Bolli, Antonino Neri, Federica Torricelli, Leslie A. Crews, Catriona H. M. Jamieson, Raffaella Chiaramonte
Summary: The NOTCH ligands JAG1 and JAG2 have been linked to multiple myeloma (MM) cell proliferation, drug resistance, self-renewal, and communication with the tumor microenvironment. Targeting JAG1/2 shows potential as a therapeutic approach for MM. Silencing JAG1 and JAG2 leads to reduced tumor burden in a MM xenograft model, and their protein expression is correlated with the presence of MM cells in patients' bone marrow. Furthermore, JAG2 gene expression level serves as a predictive biomarker for overall survival and progression-free survival in MM patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)