Article
Dermatology
Yumei Gao, Fengjie Liu, Jingru Sun, Yujie Wen, Ping Tu, Marshall E. Kadin, Yang Wang
Summary: SATB1 expression is associated with clinicopathological characteristics in MF, with high expression correlating with favorable prognosis and low expression potentially linked to poor outcomes. SATB1 may influence pathology and outcomes in MF patients by regulating gene expression and immune activation.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Hematology
Alberto Herrera, Anthony Cheng, Eleni P. Mimitou, Angelina Seffens, Dean George, Michal Bar-Natan, Adriana Heguy, Kelly V. Ruggles, Jose U. Scher, Kenneth Hymes, Jo-Ann Latkowski, Niels Odum, Marshall E. Kadin, Zhengqing Ouyang, Larisa J. Geskin, Peter Smibert, Terkild B. Buus, Sergei B. Koralov
Summary: CTCL is a group of mature T-cell tumors that accumulate in the skin, with potential spread to the blood and lymph nodes. Analysis reveals transcriptional and genetic evolution in malignant T-cell populations, with environmental signals and genetic aberrations influencing their profiles. The skin microenvironment promotes a transcriptional response supporting rapid malignant expansion, shedding light on the need for personalized therapy to target all subclones.
Article
Biochemistry & Molecular Biology
Katharina Rindler, Constanze Jonak, Natalia Alkon, Felix M. Thaler, Harald Kurz, Lisa E. Shaw, Georg Stingl, Wolfgang Weninger, Florian Halbritter, Wolfgang M. Bauer, Matthias Farlik, Patrick M. Brunner
Summary: The study identified a specific panel of biomarkers associated with disease progression in mycosis fungoides (MF) patients, which may be used for monitoring MF disease progression. Altered expression of these genes may underlie the switch in clinical phenotype observed in advanced-stage MF.
Article
Multidisciplinary Sciences
Xuehai Wang, Michael Nissen, Deanne Gracias, Manabu Kusakabe, Guillermo Simkin, Aixiang Jiang, Gerben Duns, Clementine Sarkozy, Laura Hilton, Elizabeth A. Chavez, Gabriela C. Segat, Rachel Wong, Jubin Kim, Tomohiro Aoki, Rashedul Islam, Christina May, Stacy Hung, Kate Tyshchenko, Ryan R. Brinkman, Martin Hirst, Aly Karsan, Ciara Freeman, Laurie H. Sehn, Ryan D. Morin, Andrew J. Roth, Kerry J. Savage, Jeffrey W. Craig, Sohrab P. Shah, Christian Steidl, David W. Scott, Andrew P. Weng
Summary: In this study, the authors conducted comprehensive phenotypic profiling of 155 diagnostic follicular lymphoma (FL) biopsies using mass cytometry. They identified two recurrent patterns associated with transformation risk and found that increased follicular helper T cells and intratumoral phenotypic diversity were independently associated with increased risk of transformation. They also developed a reduced 26-marker panel which could be used for phenotypic profiling of future FL cohorts using conventional flow cytometry.
NATURE COMMUNICATIONS
(2022)
Article
Oncology
Xiaofei Song, Shiun Chang, Lucia Seminario-Vidal, Alvaro de Mingo Pulido, Leticia Tordesillas, Xingzhi Song, Rhianna A. Reed, Andrea Harkins, Shannen Whiddon, Jonathan Nguyen, Carlos Moran Segura, Chaomei Zhang, Sean Yoder, Zena Sayegh, Yun Zhao, Jane L. Messina, Carly M. Harro, Xiaohui Zhang, Jose R. Conejo-Garcia, Anders Berglund, Lubomir Sokol, Jianhua Zhang, Paulo C. Rodriguez, James J. Mule, Andrew P. Futreal, Kenneth Y. Tsai, Pei-Ling Chen
Summary: This study comprehensively investigated the tumor ecosystem of transformed CTCL using multiomics approaches. The findings revealed high tumor mutation burden, recurrently mutated pathways, and immune escape related changes in tCTCL. In addition, pharmacologic perturbation targeting OXPHOS and MYC showed promising antitumor activities, and intercellular communications between malignant T cells and macrophages/B cells were identified.
Article
Biochemistry & Molecular Biology
Yanhua Tian, Qingqing Li, Zhenlin Yang, Shu Zhang, Jiachen Xu, Zhijie Wang, Hua Bai, Jianchun Duan, Bo Zheng, Wen Li, Yueli Cui, Xin Wang, Rui Wan, Kailun Fei, Jia Zhong, Shugeng Gao, Jie He, Carl M. Gay, Jianjun Zhang, Jie Wang, Fuchou Tang
Summary: Single-cell sequencing technology allows for analysis of individual cells in SCLC, revealing the heterogeneity of tumor cells and their interactions with the tumor microenvironment. Non-neuroendocrine tumors show increased immune response and better responses to immune checkpoint inhibitors.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2022)
Article
Cell Biology
Xiaoqi Wang, Xiaobin Wu, Pei Zhang, Yuan Zhou, Jun Cai, Ling Jin
Summary: The adaptive immune response mediated by T cells plays a vital role in blood pressure elevation. This study identified four subsets of memory T cells in hypertensive patients and found that CD8 effector memory T cells have more biological functions. Subpopulation 1 of CD8 TEM cells was shown to contribute to blood pressure elevation, and marker genes CKS2, PLIN2, and CNBP were identified.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Kaile Wang, Tapsi Kumar, Junke Wang, Darlan Conterno Minussi, Emi Sei, Jianzhuo Li, Tuan M. Tran, Aatish Thennavan, Min Hu, Anna K. Casasent, Zhenna Xiao, Shanshan Bai, Lei Yang, Lorraine M. King, Vandna Shah, Petra Kristel, Carolien L. van der Borden, Jeffrey R. Marks, Yuehui Zhao, Amado J. Zurita, Ana Aparicio, Brian Chapin, Jie Ye, Jianjun Zhang, Ellinor Grand Challenge PRECISION Consortium, Ellinor Sawyer, Alastair M. Thompson, Andrew Futreal, E. Shelley Hwang, Jelle Wesseling, Esther H. Lips, Nicholas E. Navin
Summary: Ductal carcinoma in situ (DCIS) is a precursor of invasive breast cancer, and there is limited understanding of its genomic progression to recurrent disease, mainly due to challenges in genomic profiling of FFPE materials. In this study, a high-throughput single-cell DNA-sequencing method called Arc-well was developed and validated with FFPE samples. The results revealed that DCIS had undergone whole-genome doubling and clonal diversification, sharing genomic lineages with persistent subclones in recurrences.
Article
Multidisciplinary Sciences
Chao Liu, Min Zhang, Xinlong Yan, Yanli Ni, Yandong Gong, Cong Wang, Xiaoling Zhang, Lingfei Wan, Hui Yang, Chen Ge, Yunqiao Li, Wenxue Zou, Rui Huang, Xiaohui Li, Bing Sun, Bing Liu, Jinbo Yue, Jinming Yu
Summary: By performing single-cell RNA sequencing on human cervical tissues at different stages of malignancy, this study reveals the transcriptional tumorigenic trajectory of cervical epithelial cells in cervical squamous cell carcinoma (CESC) and identifies key factors involved in CESC initiation and progression. It also shows significant correlations between specific myeloid, lymphoid, and endothelial cell populations and CESC progression, as well as their association with patients' prognosis. Furthermore, the study demonstrates the tumor-promoting function of matrix cancer-associated fibroblasts via the NRG1-ERBB3 pathway in CESC. This research provides valuable insights for refining CESC diagnosis and designing optimal treatment strategies.
Article
Medicine, Research & Experimental
Qingyang Li, Zhenlai Zhu, Lei Wang, Yiting Lin, Hui Fang, Jie Lei, Tianyu Cao, Gang Wang, Erle Dang
Summary: This study utilized single-cell RNA sequencing to investigate the characteristics and heterogeneity of vascular endothelial cells in human dermis, revealing unique features in metabolism, cytokine signaling, chemotaxis, and cell adhesion. Different subtypes of dermal endothelial cells were identified, each showing specific molecular signatures and biological functions. The study demonstrates potential implications for future research on disease-specific alterations of dermal endothelial cells.
Article
Oncology
Wei Song, Haixi Zhang, Fan Yang, Kiichi Nakahira, Cheng Wang, Keqian Shi, Ruoyu Zhang
Summary: In this study, the researchers generated the first single cell landscape for hepatosplenic T-cell lymphoma (HSTCL) and characterized the molecular pathogenesis underlying the disease progression. They found unique gene expressing signatures in malingnant gamma delta T cells of HSTCL and discovered two transcriptionally distinct tumor subtypes during the disease progression.
Article
Cell Biology
Xiaotong Xue, Zhenzhen Wang, Zihao Mi, Tingting Liu, Chuan Wang, Peidian Shi, Lele Sun, Yongliang Yang, Wenchao Li, Zhe Wang, Hong Liu, Furen Zhang
Summary: Sezary syndrome, a rare and aggressive type of cutaneous T cell lymphoma, poses challenges in diagnosis and treatment due to its intra-tumoral heterogeneity and poor understanding of its pathogenesis. Single-cell transcriptomic and chromatin accessibility data analysis revealed developmental differences and specific marker genes in Sezary cells from different sources, providing insights into the diagnosis and prognosis of MF/SS. Functional experiments demonstrated that targeting inhibition of KLHL42 could be a promising therapeutic approach in CTCL.
CELL DEATH & DISEASE
(2022)
Article
Cell Biology
Jie Yang, Yongyun Li, Yanping Han, Yiyi Feng, Min Zhou, Chunyan Zong, Xiaoyu He, Renbing Jia, Xiaofang Xu, Jiayan Fan
Summary: This study utilized single-cell RNA sequencing to uncover the cellular heterogeneity and developmental mechanism of human retinoblastoma, identifying two major cell types and 5 different cell states. Cone precursors were found to be the initiating cells of retinoblastoma, while UBE2C was associated with an activation state in the malignant progression of the tumor.
CELL DEATH & DISEASE
(2021)
Article
Oncology
Yuxin Du, Yun Cai, Yan Lv, Lishen Zhang, Hao Yang, Quanzhong Liu, Ming Hong, Yue Teng, Weiyan Tang, Rong Ma, Jianqiu Wu, Jianzhong Wu, Qianghu Wang, Hongshan Chen, Kening Li, Jifeng Feng
Summary: The study revealed the landscape of an immunosuppressive tumor microenvironment mediated by interactions between malignant T cells and myeloid cells, and provided novel targets and potential treatment strategies for advanced CTCL patients.
Article
Oncology
Hiroshi Kagamu, Satoshi Yamasaki, Shigehisa Kitano, Ou Yamaguchi, Atsuto Mouri, Ayako Shiono, Fuyumi Nishihara, Yu Miura, Kosuke Hashimoto, Hisao Imai, Kyoichi Kaira, Kunihiko Kobayashi, Yae Kanai, Tatsuhiro Shibata, Katsuhisa Horimoto
Summary: CD4(+) T-cell immunity is essential in antitumor immune responses. A new CD4(+) T-cell metacluster associated with the efficacy of PD-1 blockade therapy has been identified, which can predict the progression-free survival and overall survival of lung cancer patients after PD-1 blockade therapy.
Article
Biochemistry & Molecular Biology
Andrew P. Voigt, Nathaniel K. Mullin, Kelly Mulfaul, Lola P. Lozano, Luke A. Wiley, Miles J. Flamme-Wiese, Erin A. Boese, Ian C. Han, Todd E. Scheetz, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Summary: In this study, single-cell RNA sequencing was performed on the human choroid to identify gene expression signatures and characterize immune cell populations in age-related macular degeneration (AMD) patients. The study also investigated transcriptomic changes in choroidal vasculature and differential gene expression between control and AMD samples. The findings provide important insights into the molecular features and immunological changes associated with AMD.
HUMAN MOLECULAR GENETICS
(2022)
Article
Oncology
Kelly Mulfaul, Nathaniel K. Mullin, Joseph C. Giacalone, Andrew P. Voigt, Melette DeVore, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Summary: Activation of the alternative complement pathway is a crucial event in the development of age-related macular degeneration (AMD). Uncontrolled complement activation leads to the formation of the membrane attack complex (MAC). This study demonstrates that reduced levels of complement factor H (FH) in the choroid can contribute to MAC deposition on choroidal endothelial cells (CECs), while overexpression of FH can protect against MAC deposition. These findings highlight the importance of local FH production in preventing MAC deposition in AMD.
JOURNAL OF PATHOLOGY
(2022)
Article
Hematology
Nicholas Borcherding, Kevin J. Severson, Nicholas Henderson, Luana S. Ortolan, Allison C. Rosenthal, Andrew M. Bellizzi, Vincent Liu, Brian K. Link, Aaron R. Mangold, Ali Jabbari
Summary: Cutaneous T-cell lymphomas (CTCLs) are a group of diseases caused by skin-tropic T-cell proliferation. The course of the disease varies, with some patients having indolent progression while others experience aggressive progression and poor survival. S e ' zary syndrome (SS), a leukemic variant of CTCL, lacks consistent markers for diagnosis and treatment selection. A study using single-cell sequencing identified distinct cell populations in SS and potential mechanisms of immune evasion.
Article
Dermatology
Zachary Skopec, Kristen G. Berrebi, Mary Stone, Vincent Liu
Summary: Syringocystadenoma papilliferum (SCAP), tubular apocrine adenoma (TAA), and eccrine nevus are rare benign sweat gland tumors with distinctive histomorphologic profiles. TAA and SCAP are commonly associated with other cutaneous hamartomas, while eccrine nevus is less common and rarely associated with other benign adnexal lesions.
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Article
Medicine, Research & Experimental
Qierra R. Brockman, Amanda Scherer, Gavin R. McGivney, Wade R. Gutierrez, Andrew P. Voigt, Alexandra L. Isaacson, Emily A. Laverty, Grace Roughton, Vickie Knepper-Adrian, Benjamin Darbro, Munir R. Tanas, Christopher S. Stipp, Rebecca D. Dodd
Summary: Loss of PRC2 has a critical role in driving metastasis in malignant peripheral nerve sheath tumors (MPNSTs), leading to increased collagen-dependent invasion, upregulation of matrix-remodeling enzymes, and elevated lung metastasis. Clinical sample analysis confirms that PRC2 loss is associated with metastatic disease, increased fibrosis, and decreased survival in MPNST patients.
Article
Oncology
Angie Mae Rodday, Susan K. K. Parsons, Jenica N. N. Upshaw, Jonathan W. W. Friedberg, Andrea Gallamini, Eliza Hawkes, David Hodgson, Peter Johnson, Brian K. K. Link, Eric Mou, Kerry J. J. Savage, Pier Luigi Zinzani, Matthew Maurer, Andrew M. M. Evens
Summary: A modern clinical prediction model was developed and validated to improve the prediction of prognosis in patients with advanced-stage classical Hodgkin lymphoma. The model was developed using data from eight international clinical trials and validated using data from real-world registries. Several important predictor variables were identified and an online calculator was created for individualized prediction.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Hematology
Narendranath Epperla, Jeffrey Switchenko, Veronika Bachanova, James N. Gerson, Stefan K. Barta, Max J. Gordon, Alexey Danilov, Natalie S. Grover, Stephanie Mathews, Madelyn Burkart, Reem Karmali, Yazeed Sawalha, Brian T. Hill, Nilanjan Ghosh, Steven I. Park, David A. Bond, Mehdi Hamadani, Timothy S. Fenske, Peter Martin, Mary-Kate Malecek, Brad S. Kahl, Christopher R. Flowers, Brian K. Link, Lawrence D. Kaplan, David J. Inwards, Andrew L. Feldman, Eric D. Hsi, Kami Maddocks, Kristie A. Blum, Nancy L. Bartlett, James R. Cerhan, John P. Leonard, Thomas M. Habermann, Matthew J. Maurer, Jonathon B. Cohen
Summary: The study aims to evaluate the impact of diagnosis to treatment interval (DTI) on prognosis in newly diagnosed mantle cell lymphoma (MCL) patients. It was found that patients with short DTI had worse prognosis and were associated with adverse clinical factors and poor outcomes. Therefore, DTI should be considered and selection bias should be avoided in the treatment of MCL patients.
Article
Pathology
Nathaniel K. Mullin, Andrew P. Voigt, Erin A. Boese, Xiuying Liu, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Summary: This study identified the regulatory differences in gene expression in human RPE in specific regions and subpopulations, providing insights into the molecular basis of macular diseases.
AMERICAN JOURNAL OF PATHOLOGY
(2023)
Article
Oncology
Melissa A. Hopper, Kerstin Wenzl, Keenan T. Hartert, Jordan E. Krull, Abigail R. Dropik, Joseph P. Novak, Michelle K. Manske, MaKayla R. Serres, Vivekananda Sarangi, Melissa C. Larson, Matthew J. Maurer, Zhi-Zhang Yang, Jonas Paludo, Ellen D. McPhail, Thomas M. Habermann, Brian K. Link, Lisa M. Rimsza, Stephen M. Ansell, James R. Cerhan, Dragan Jevremovic, Anne J. Novak
Summary: Non-follicular low-grade B-cell lymphomas (LGBCL) are biologically diverse entities that are difficult to categorize pathologically. By using RNA sequencing and machine learning approaches, this study identified five clusters of patients that were independent of subtype. One cluster had inferior outcome, upregulated cell cycle genes, and increased tumor immune cell content.
HEMATOLOGICAL ONCOLOGY
(2023)
Article
Medicine, Research & Experimental
Nathaniel K. Mullin, Andrew P. Voigt, Miles J. Flamme-Wiese, Xiuying Liu, Megan J. Riker, Katayoun Varzavand, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Summary: Variants in the high copy number mitochondrial genome can disrupt organelle function and lead to severe multisystem disease. Heteroplasmy, the uneven distribution of abnormal mtDNA molecules in different cells and tissues, contributes to the wide range of manifestations observed in patients with mitochondrial disease. This study reveals the nonrandom nature of mitochondrial variant distribution in human mitochondrial disease, highlighting its importance for understanding pathogenesis and developing treatments.
Article
Dermatology
Zachary Skopec, Mouaz Alsawas, Timothy Maxwell, Daniel Pelletier, Zoe Brown-Joel, Andrew Bellizzi, Vincent Liu
Summary: This study evaluates the specificity of proposed histopathologic and immunohistochemical criteria for IgG4-related skin disease by analyzing a wide range of IgG4-related skin disease mimics. The results demonstrate the common occurrence of lymphoplasmacytic infiltrates, while storiform fibrosis and obliterative phlebitis are rare.
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Article
Hematology
Rahul Lakhotia, Kieron Dunleavy, Jeremy S. Abramson, Brian K. Link, Bayard L. Powell, Christopher Melani, Andrea N. Lucas, Seth M. Steinberg, Jonathan W. Friedberg, Brad S. Kahl, Richard F. Little, Nancy L. Bartlett, Ariela Noy, Wyndham H. Wilson, Mark Roschewski
Article
Hematology
Gilles Salles, Stephen J. Schuster, Luca Fischer, John Kuruvilla, Piers Em Patten, Bastian von Tresckow, Sonali M. Smith, Ana Isabel Jiminez Ubieto, Keith L. Davis, Saurabh P. Nagar, Jie Zhang, Vamsi Bollu, Etienne Jousseaume, Roberto Ramos, Yucai Wang, Brian K. Link
Summary: This study aimed to construct a historical control cohort for relapsed/refractory follicular lymphoma (r/r FL) in order to enhance single-arm trials. The findings demonstrate the clinical characteristics and treatment outcomes of r/r FL patients, as well as the treatment limitations and unmet needs for certain patients. By comparing with previous studies, this research provides valuable control data for comparative studies.