tbuckley/cabot-search huggingface dataset:
198P The Efficacy and safety of adjuvant nivolumab therapy after neoadjuvant docetaxel plus cisplatin, 5-FU therapy for resectable locally advanced esophageal squamous cell carcinoma
Authors: N. Ogura, S. Yamamoto, T. Hirose, K. Shiraishi, H. Imazeki, M. Itoyama, K. Yokoyama, Y. Honma, D. Kurita, K. Ishiyama, J. Oguma, H. Daiko, Y. Seto, K. Kato
Journal: Annals of Oncology (2024)
Loncastuximab tesirine with rituximab in patients with relapsed or refractory follicular lymphoma: a single-centre, single-arm, phase 2 trial
Authors: Juan Pablo Alderuccio, Alvaro J Alencar, Jonathan H Schatz, Russ A Kuker, Georgios Pongas, Isildinha M Reis, Lazaros J Lekakis, Jay Y Spiegel, Jose Sandoval-Sus, Amer Beitinjaneh, Michele D Stanchina, Asaad Trabolsi, Izidore S Lossos, Joseph D Rosenblatt, David S Lessen, Craig H Moskowitz
Journal: The Lancet Haematology (2024)
218P Clinical significance of tumor-associated high endothelial venules in hepatocellular carcinoma
Authors: S. Aoyama, T. Noda, S. Kobayashi, K. Sasaki, S. Hasegawa, Y. Iwagami, D. Yamada, Y. Tomimaru, H. Akita, H. Takahashi, H. Wada, Y. Doki, H. Eguchi
Journal: Annals of Oncology (2024)
107P Anlotinib plus chemotherapy as first-line (1L) treatment in gastrointestinal cancer patients with unresectable liver metastases
Authors: J. Wu, L. Zhu, C. Zhou, M. Shi, J. Chen, L. Zhao, Z. Han, C. Wang, Y. Mao, L. Zhu, X. Wei, J. Jiang, J. Yan, C. Wang, Z. Qin, D. Cui, X. Yang, X. Tang, J. Zhang
Journal: Annals of Oncology (2024)
132MO Anti-claudin18.2 (CLDN18.2) antibody-drug conjugate (ADC) IBI343 in patients (pts) with advanced pancreatic ductal adenocarcinoma (PDAC): Updated results from a phase I study
Authors: X. Yu, J. Zhang, J.J. Liu, J. Yang, J. Yue, Y. Sun, Y. Pan, M.L. Sun, Y. Qin, L. Shen, R. Song, J. Ruan, A. Zhou, Y. Mou, M. Aghmesheh, M. Morris, X. Yu, X. Zhao, M. Chen, A. Tazbirkova
Journal: Annals of Oncology (2024)
Reactive oxygen species: Janus-faced molecules in the era of modern cancer therapy
Authors: Aine O’Reilly, Wenchao Zhao, Stina Wickström, Elias S J Arnér, Rolf Kiessling
Journal: Journal for ImmunoTherapy of Cancer (2024)

Oxidative stress, that is, an unbalanced increase in reactive oxygen species (ROS), contributes to tumor-induced immune suppression and limits the efficacy of immunotherapy. Cancer cells have inherently increased ROS production, intracellularly through metabolic perturbations and extracellularly through activation of NADPH oxidases, which promotes cancer progression. Further increased ROS production or impaired antioxidant systems, induced, for example, by chemotherapy or radiotherapy, can preferentially kill cancer cells over healthy cells. Inflammatory cell-derived ROS mediate immunosuppressive effects of myeloid-derived suppressor cells and activated granulocytes, hampering antitumor effector cells such as T cells and natural killer (NK) cells. Cancer therapies modulating ROS levels in tumors may thus have entirely different consequences when targeting cancer cells versus immune cells. Here we discuss the possibility of developing more efficient cancer therapies based on reduction-oxidation modulation, as either monotherapies or in combination with immunotherapy. Short-term, systemic administration of antioxidants or drugs blocking ROS production can boost the immune system and act in synergy with immunotherapy. However, prolonged use of antioxidants can instead enhance tumor progression. Alternatives to systemic antioxidant administration are under development where gene-modified or activated T cells and NK cells are shielded ex vivo against the harmful effects of ROS before the infusion to patients with cancer.
63P A randomised, double-blind, phase I study to compare the pharmacokinetics, safety, tolerability, and immunogenicity of HLX15 and daratumumab in healthy male participants
Authors: Y-W. Su, X. Wang, Y-H. Wang, Y. Xu, Q. Zhang, X. Gao, Y. Liu, W. Bai, C. Sun, L. Zhou, H. Yu, Q. Wang
Journal: Annals of Oncology (2024)
68P Patient-reported outcomes (PROs) in Chinese patients with mantle cell lymphoma (MCL) after covalent Bruton’s tyrosine kinase inhibitor (cBTKi) treatment: Post-hoc analysis from a phase II study
Authors: Y. Song, Y. Liu, N. Lin, S. Yi, H. Huang, Y. Guo, Q.Y. Zhang, H. Yang, H. Zhang, L. Zhang, R. Feng, Y. Qian, J. Zhu, Y. Ding, J. Zhu
Journal: Annals of Oncology (2024)
70P Hypofractionated radiotherapy in combination with PD-1 inhibitors, GM-CSF and thymosin α1 in advanced relapsed metastatic solid tumors: An interim analysis of a single-arm phase II multicenter prospective clinical study
Authors: J. Yu, L. Yin, Q. Wang, J. Liu, L. Zhang, H. Ye, J. Xia, Y. Xia, J. Wu, W. Wang, Y. Yang, D. Zong, J. Hong, L. Wang, X. He
Journal: Annals of Oncology (2024)
47P The role of radiation therapy for patients with ophthalmic metastases from breast cancer: A systematic review
Authors: C.L. Budiputri, E.F. Trimillenia, F. Wijovi, A. Tancherla, F. Dharmaraja, V. Angelica, K. Wibowo, A. Kurniawan, A. Giselvania
Journal: Annals of Oncology (2024)
23P Clinicopathological features of HR+/HER2 low breast cancer in a real-world setting in China
Authors: Z. Min, F. Zhou, H. Qu, Y. Ren, W. Liang, M. Liu, J. Wang, J. Luo, X. Tan, G. Dai, G. Hu, Q. Meng, W. He, H. Wang, W. Liu, H. Tang, Q. Wu, H. Liu, Y. Tian, Z. Qin
Journal: Annals of Oncology (2024)
25TiP Short-term pre-operative durvalumab in early small triple negative breast cancer patients (POP-Durva)
Authors: J.R. Dixon Douglas, J.T.M.L. Ribeiro, I. Pic, Q. Blampey, E. Rassy, N. Ibrahimi, L. Salabert, O. Tredan, M. Arnedos, S. Dogan, K. Serhal, A.A. Viansone, B. Pistilli, M. Lacroix-Triki, J-Y. Scoazec, L. Derosa, L. Zitvogel, N. Bercovici, F. André, S. Michiels
Journal: Annals of Oncology (2024)
62P Patient satisfaction and preference for atezolizumab subcutaneous (atezo SC) by body mass index (BMI) or race (Asian vs non-Asian) from IMscin001 and IMscin002
Authors: B. Chewaskulyong, Z. Zvirbule, K.H. Lee, A.Y. Castro Sanchez, A. Bustillos, L.A. Herraez Baranda, L.X. Liu, S-W. Kim
Journal: Annals of Oncology (2024)
24TiP A phase III, randomized study of adjuvant sacituzumab tirumotecan (sac-TMT) plus pembrolizumab vs treatment of physician’s choice (TPC) in patients with TNBC who received neoadjuvant therapy and did not achieve a pathological complete response (pCR) at surgery
Authors: R.A. Dent, R. Hui, Y.H. Park, P. Schmid, J. Wei, J.A. Mejia, W. Pan, J. Cortés, H.L. McArthur
Journal: Annals of Oncology (2024)
57O A phase I/II multicenter, first-in-human study of DB-1311/BNT324 (a novel B7H3 ADC) in patients with advanced solid tumors
Authors: Y. Cheng, L. Wu, A. Parsonson, H. Amin, J. Shi, C. Lemech, Y. Sun, A. Schmidt, D. Lv, M. Li, T. Zheng, A. Chaudhry, C. Gandhi, Q. Wang, D.A. Montoya Motino, A. Abed, R. Tibes, X. Lu, V. Gu, A.E. Lisberg
Journal: Annals of Oncology (2024)
26TiP Tislelizumab combined with nab-paclitaxel, adriamycin and cyclophosphamide chemotherapy in neoadjuvant treatment in triple-negative breast cancer: A prospective, single-arm, open-label phase II study
Authors: G. Zhang, Y. He, D. Luo, X. Zhang, B. Gao, Y. Jiang, J. Zhao, L. Guo, Y. Xu
Journal: Annals of Oncology (2024)
41P Impact of HER2-low and HER2-zero status on metastatic hormonal receptor-positive breast cancer patients treated with first-line aromatase inhibitors, with or without CDK4/6 inhibitors: A multicenter retrospective analysis
Authors: T. Susiriwatananont, C. Wongkraisri, T. Dajsakdipon, A. Supavavej, A. Dechaphunkul, P. Sunpaweravong, S. Neesanun, S. Ithimakin, T. Dejthevaporn, N. Parinyanitikul
Journal: Annals of Oncology (2024)
1O A prognostic value of BCT gene score in ER+HER2- breast cancer patients with 21-gene recurrence score
Authors: S.G. Ahn, J. Yu, S. Baek, S.J. Bae, Y. Kook, L. Minji, J. Jeong, S.U. Woo, S. Lee
Journal: Annals of Oncology (2024)
40P Real-world safety and effectiveness of ribociclib in Korean patients with HR+/HER2- locally advanced or metastatic breast cancer
Authors: J.H. Kim, M-C. Chang, T-H. Kim, J.H. Seo, J-J. Kim, H.S. Won, M-K. Seong, Y. Kang, Y. Lee, K-H. Lee
Journal: Annals of Oncology (2024)
44P Genomic mutational profile of breast cancer patients from India through comprehensive next-generation sequencing analysis of circulating tumor DNA
Authors: N. Rohatgi, A. Rauthan, S. Limaye, S. Patil, B. Sirohi, P.K. Julka, B. Chugh, A. Dhar, R. Bharat, S.S. Jain, N. Joshi, A. Bahl
Journal: Annals of Oncology (2024)
53P Real-world treatment patterns for HER2+ and HR+/HER2- advanced breast cancer in county areas of China
Authors: Y. Ji, H. Qu, F. Zhou, Y. Ren, W. Liang, J. Wang, G. Dai, M. Liu, J. Luo, Q. Wu, X. Tan, Q. Meng, W. He, W. Liu, G. Hu, J. Wang, H. Tang, J. Gao, H. Liu, Y. Zhang
Journal: Annals of Oncology (2024)
60O A phase Ia study of DNP002, a monoclonal antibody that binds to tumor-associated CEACAM family proteins, in patients with advanced solid tumors: Interim results from dose escalation study
Authors: W. Choi, J. Baek, Y. Cha, T. Yun, B-C. Ahn, Y.S. Hong, J.E. Kim, S.Y. Kim, G. Ji, K.P. Hong, Y. Kim, T.W. Kim, M.K. Choi
Journal: Annals of Oncology (2024)
43P Efficacy and safety of paclitaxel liposomes in combination with anti-HER-2 targeted drugs as first-line rescue therapy for HER-2-positive locally advanced or metastatic breast cancer: A retrospective, real-world study based on the Cancer Database of China National Cancer Center (NCC)
Authors: J. Yue, Z. Hui, F. Ma, J. Zhang, S. Wang, L. Zhang, X. Zeng, H. Li
Journal: Annals of Oncology (2024)
59O A first-in-human, phase I study of BPI-371153, a novel small-molecule PD-L1 inhibitor, in advanced solid tumors or recurrent/refractory (r/r) lymphoma
Authors: J. Yang, Y. Yu, X. Ren, D. Zhong, M. Sun, Q. Wen, X. Du, X. Liu, Z. Shen, P. Li, L. Ding, Y-K. Shi
Journal: Annals of Oncology (2024)
17P To use or not to use adjuvant trastuzumab emtansine in early breast cancer in resource constrained settings: Can residual cancer burden (RCB) help us to stratify risk of residual disease?
Authors: V. Simha, S. Anantharamu, V. Munirathnam, S.S. K, T. Maneesha, S.A. Mathranda
Journal: Annals of Oncology (2024)
58O Clinical efficacy, safety, and PK/PD from the first in human study of BM201, a TLR7/8 agonist
Authors: R. Li, X. Wang, Q. Liu, J. Shen, F. Yin, J. Yang, X. Zhou, J. Liu, Y. Yang, S. Du, S. Tan, S. Qin, Z. Liu, B. Liu
Journal: Annals of Oncology (2024)
42P Safety, tolerability, pharmacokinetics, and antitumor activity of FDA022-BB05 in patients with advanced/metastatic solid tumors: A multicenter, open-label, first-in-human, phase I/Ib study
Authors: X. Wang, Y. Li, J. Sun, Y. Sun, H. Li, H. Li, J. Wang, X. Ling, J. Yang, Y. Yan, X. Wang, W. Sun, K. Liu
Journal: Annals of Oncology (2024)
38MO Datopotamab deruxtecan (Dato-DXd) vs chemotherapy (CT) in patients (pts) with pre-treated inoperable/metastatic hormone receptor-positive, HER2-negative (HR+/HER2–) breast cancer (BC): Results from TROPION-Breast01 China cohort
Authors: S. Wang, Q. Zhang, Z. Jiang, Z. Tong, W. Li, J. Wang, Q. Ouyang, T. Yao, Y. Wang, M.L. Sun, X. Wang, S. Wang, A. Zang, Z. Zhang, W. Chen, X. Wang, H. Li, Y. Sheng, A. Bardia, B. Xu
Journal: Annals of Oncology (2024)
34P MicroRNAs as therapeutic and prognostic markers for resistance to therapy in HER2/neu positive breast cancers
Authors: P.K. D V M, S.A. Mathranda, R.B. Diwakar, S. Srihari, V. Munirathnam, V. Simha, S. Anantharamu, A. Namani, H.P. S, D. Devi, S. B S, A. Korlimarla
Journal: Annals of Oncology (2024)
61O Updated results of a phase II trial evaluating an anti-EpCAM x anti-CD3 bispecific antibody, M701, for the treatment of malignant ascites
Authors: R. Liu, J. Xu, R. Lin, N. Li, G. Li, T. Zhang, J. Zhao, J. Li, M. Sun, K. Wang, H. An, W. Zhang, H. Xu, S. Zeng, M. Zhang, P. Zhou, S. Huang, X. Wang
Journal: Annals of Oncology (2024)
2O Analysis of Asian and non-Asian patients (pts) from the NATALEE trial of ribociclib (RIB) + a nonsteroidal aromatase inhibitor (NSAI) in pts with HR+/HER2− early breast cancer (EBC)
Authors: B. Xu, D. Stroyakovskiy, J. Sohn, Y.H. Park, C-S. Huang, Y-S. Lu, K.H. Jung, A. Chan, J. Zhang, J. Lee, J.H. Kim, C-F. Chung, D. Slamon, V. Sakalosh, M. Gao, K. Amin, S. Islam, S-A. Im
Journal: Annals of Oncology (2024)
46P Real-world treatment patterns and survival outcomes in patients (pts) with HER2+ unresectable (u) or metastatic breast cancer (mBC): HER2 REAL Asia cohort
Authors: S.C. Lee, W-P. Chung, R.K.c. Ngan, S-A. Im, R. Hui, S-B. Kim, C-S. Huang, T. Tung
Journal: Annals of Oncology (2024)
37MO HER2-low heterogeneity and its impact on benefit from trastuzumab deruxtecan in metastatic breast cancer
Authors: Y. Zou, X. Deng, J. Xie, Y. Zeng, B. Jing, J. Fu, Y. Jiang, H. Tang, P. Liu, X. Xie
Journal: Annals of Oncology (2024)
30P Pan-immune inflammation value (PIV): A predictive marker of response to neo-adjuvant chemotherapy (NACT) in locally advanced breast cancer (LABC)
Authors: G.C. Shenoy, K.N. Lokesh, M.S. Hiremani, S. Babu Mc, A.H. Rudresha, R.K. Lakkavalli Krishnappa, S.C. Saldanha, L.A. Jacob
Journal: Annals of Oncology (2024)
51P Taxane-based chemotherapy versus endocrine therapy plus CDK4/6 inhibitor as first-line treatment in hormone receptor-positive HER2-negative metastatic breast cancer that progressed on adjuvant endocrine therapy
Authors: Y. Yuan, S. Wu, Y. Wang, L. Bian, S. Zhang, T. Wang, J.B. Li, Z. Jiang
Journal: Annals of Oncology (2024)
19P Molecular subtyping and prediction of risk of recurrence for early stage receptor positive breast cancer for using Nanostring nCounter: First study from India
Authors: V. Ramshankar, A. Lochan G, V. Radhakrishnan, A. Krishnamurthy, T.A. Mukherhee, D. Arya, C. Gowda, A. Bahl, A. Gore, S. Bipte, C.D. Deshmukh, S. Hingmire, N. Raizada, N. Tandon, V. Muddu, S. Zaveri, V. Agarwala, N. Choudhary, S. Kd, A. Rautan
Journal: Annals of Oncology (2024)
55P A retrospective study to investigate the prevalence and describe the treatment outcomes of HER2-low unresectable and/or metastatic breast cancer in Taiwan: The RetroBC-HER2L-TW study
Authors: L-M. Tseng, P-H. Huang, K-T. Lee, C-Y. Hsu, Y-H. Lee, H-W. Chen, Y-S. Lu, C-C. Huang, Y-F. Tsai, T-C. Chao, J-I. Lai, C-Y. Liu, W.C. Yang, Y-T. Huang, C-Y. Huang, Y-C. Lin
Journal: Annals of Oncology (2024)
48P Clinical characteristics of patients (pts) with HER2+ unresectable (u) or metastatic (m) breast cancer (BC): HER2 REAL Asia cohort
Authors: S.C. Lee, W-P. Chung, K.C.R. Ngan, S-A. Im, R. Hui, S-B. Kim, C-S. Huang, T. Tung
Journal: Annals of Oncology (2024)
14P Enhancing quality of life and reducing inflammation in postmenopausal breast cancer survivors receiving aromatase inhibitors through supplementation with fish oil and evening primrose oil: A pilot randomized placebo-controlled trial
Authors: V. Vucic, M. Paunovic, S. Petrovic, M. Kojadinovic, D. Ristic-Medic, B. Pokimica, A. Arsic
Journal: Annals of Oncology (2024)
An electrostatic encapsulation strategy to motivate 3D-printed polyelectrolyte scaffolds for repair of osteoporotic bone defects
Authors: Xiang Gao, Jirong Yang, Lingna Liu, Zilong Hu, Rui Lin, Lan Tang, Mei Yu, Zhiping Chen, Chongjian Gao, Min Zhang, Li Li, Changshun Ruan, Yanzhi Liu
Journal: Bioactive Materials (2024)
Advancing tumor microenvironment and lymphoid tissue research through 3D bioprinting and biofabrication
Authors: Corrado Mazzaglia, Yan Yan Shery Huang, Jacqueline D Shields
Journal: Advanced Drug Delivery Reviews (2024)

Cancer progression is significantly influenced by the complex interactions within the tumor microenvironment (TME). Immune cells, in particular, play a critical role by infiltrating tumors from the circulation and surrounding lymphoid tissues in an attempt to control their spread. However, they often fail in this task. Current in vivo and in vitro preclinical models struggle to fully capture these intricate interactions affecting our ability to understand immune evasion and predict drugs behaviour in the clinic. To address this challenge, biofabrication and particularly 3D bioprinting has emerged as a promising tool for modeling both tumors and the immune system. Its ability to incorporate multiple cell types into 3D matrices, enable tissue compartmentalization with high spatial accuracy, and integrate vasculature makes it a valuable approach. Nevertheless, limited research has focused on capturing the complex tumor-immune interplay in vitro. This review highlights the composition and significance of the TME, the architecture and function of lymphoid tissues, and innovative approaches to modeling their interactions in vitro, while proposing the concept of an extended TME.
Comparison of safety and immunogenicity in the elderly after receiving either Comirnaty or Spikevax monovalent XBB1.5 COVID-19 vaccine
Authors: Chris Ka Pun Mok, Yun Sang Tang, Chee Wah Tan, Ka Chun Chong, Chunke Chen, Yuanxin Sun, Karen Yiu, Kwun Cheung Ling, Ken KP Chan, David S Hui
Journal: Journal of Infection (2024)
Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia
Authors: Masoud Nasri, Benjamin Dannenmann, Larissa Doll, Betül Findik, Franka Bernhard, Sergey Kandabarau, Maksim Klimiankou, Meinrad Gawaz, Claudia Lengerke, Cornelia Zeidler, Karl Welte, Julia Skokowa
Journal: Molecular Therapy (2024)
Precision Neurology
Authors: Steven L Small
Journal: Ageing Research Reviews (2024)

Over the past several decades, high-resolution brain imaging, blood and cerebrospinal fluid analyses, and other advanced technologies have changed diagnosis from an exercise depending primarily on the history and physical examination to a computer- and online resource-aided process that relies on larger and larger quantities of data. In addition, randomized controlled trials (RCT) at a population level have led to many new drugs and devices to treat neurological disease, including disease-modifying therapies. We are now at a crossroads. Combinatorially profound increases in data about individuals has led to an alternative to population-based RCTs. Genotyping and comprehensive "deep" phenotyping can sort individuals into smaller groups, enabling precise medical decisions at a personal level. In neurology, precision medicine that includes prediction, prevention and personalization requires that genomic and phenomic information further incorporate imaging and behavioral data. In this article, we review the genomic, phenomic, and computational aspects of precision medicine for neurology. After defining biological markers, we discuss some applications of these "-omic" and neuroimaging measures, and then outline the role of computation and ultimately brain simulation. We conclude the article with a discussion of the relation between precision medicine and value-based care.
Zanubrutinib Versus Bendamustine and Rituximab in Patients With Treatment-Naïve Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: Median 5-Year Follow-Up of SEQUOIA
Authors: Mazyar Shadman, Talha Munir, Tadeusz Robak, Jennifer R. Brown, Brad S. Kahl, Paolo Ghia, Krzysztof Giannopoulos, Martin Šimkovič, Anders Österborg, Luca Laurenti, Patricia A. Walker, Stephen S. Opat, Hanna Ciepluch, Richard Greil, Merit Hanna, Monica Tani, Marek Trněný, Danielle Brander, Ian W. Flinn, Sebastian Grosicki, Emma Verner, Alessandra Tedeschi, Sophie de Guibert, Gayane Tumyan, Kamel Laribi, José A. García-Marco, Jian-Yong Li, Tian Tian, Yu Liu, Roman Korolkiewicz, Andy Szeto, Constantine S. Tam, Wojciech Jurczak
Journal: Journal of Clinical Oncology (2024)

Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. Clinical Trial Updates provide an opportunity to disseminate additional results from studies, published in JCO or elsewhere, for which the primary end point has already been reported. SEQUOIA (ClinicalTrials.gov identifier: NCT03336333 ) is a phase III, randomized, open-label trial that compared the oral Bruton tyrosine kinase inhibitor zanubrutinib to bendamustine plus rituximab (BR) in treatment-naïve patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). The initial prespecified analysis (median follow-up, 26.2 months) and subsequent analysis (43.7 months) found superior progression-free survival (PFS; the primary end point) in patients who received zanubrutinib compared with BR. At a median follow-up of 61.2 months, median PFS was not reached in zanubrutinib-treated patients; median PFS was 44.1 months in BR-treated patients (hazard ratio [HR], 0.29; one-sided P = .0001). Prolonged PFS was seen with zanubrutinib versus BR in patients with mutated immunoglobulin heavy-chain variable region (IGHV) genes (HR, 0.40; one-sided P = .0003) and unmutated IGHV genes (HR, 0.21 [95% CI, 0.14 to 0.33]; one-sided P &lt; .0001). Median overall survival (OS) was not reached in either treatment arm; estimated 60-month OS rates were 85.8% and 85.0% in zanubrutinib- and BR-treated patients, respectively. No new safety signals were detected. Adverse events were as expected with zanubrutinib; rate of atrial fibrillation was 7.1%. At a median follow-up of 61.2 months, the results supported the initial SEQUOIA findings and suggested that zanubrutinib was a favorable treatment option for untreated patients with CLL/SLL.
Cerebral vascular malformations: pathogenesis and therapy
Authors: Qiheng He, Ran Huo, Yingfan Sun, Zhiyao Zheng, Hongyuan Xu, Shaozhi Zhao, Yang Ni, Qifeng Yu, Yuming Jiao, Wenqian Zhang, Jizong Zhao, Yong Cao
Journal: MedComm (2024)

Abstract Cerebral vascular malformations (CVMs), particularly cerebral cavernous malformations and cerebral arteriovenous malformations, pose significant neurological challenges due to their complex etiologies and clinical implications. Traditionally viewed as congenital conditions with structural abnormalities, CVMs have been treated primarily through resection, embolization, and stereotactic radiosurgery. While these approaches offer some efficacy, they often pose risks to neurological integrity due to their invasive nature. Advances in next‐generation sequencing, particularly high‐depth whole‐exome sequencing and bioinformatics, have facilitated the identification of gene variants from neurosurgically resected CVMs samples. These advancements have deepened our understanding of CVM pathogenesis. Somatic mutations in key mechanistic pathways have been identified as causative factors, leading to a paradigm shift in CVM treatment. Additionally, recent progress in noninvasive and minimally invasive techniques, including gene imaging genomics, liquid biopsy, or endovascular biopsies (endovascular sampling of blood vessel lumens), has enabled the identification of gene variants associated with CVMs. These methods, in conjunction with clinical data, offer potential for early detection, dynamic monitoring, and targeted therapies that could be used as monotherapy or adjuncts to surgery. This review highlights advancements in CVM pathogenesis and precision therapies, outlining the future potential of precision medicine in CVM management.