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Most Cited

  • Review
  • Open Access
32 Citations
22,220 Views
10 Pages

16 May 2023

Osteosarcoma (OS) is a primary malignant bone tumour that usually occurs in children and adolescents. OS is a highly aggressive tumour type with a propensity for local invasion and systemic early metastasis to the lungs or other bones. According to t...

  • Review
  • Open Access
25 Citations
3,955 Views
17 Pages

Oncomatrix: Molecular Composition and Biomechanical Properties of the Extracellular Matrix in Human Tumors

  • Ilya Klabukov,
  • Anna Smirnova,
  • Anna Yakimova,
  • Alexander E. Kabakov,
  • Dmitri Atiakshin,
  • Daria Petrenko,
  • Victoria A. Shestakova,
  • Yana Sulina,
  • Elena Yatsenko and
  • Andrey D. Kaprin
  • + 8 authors

5 October 2024

The extracellular matrix is an organized three-dimensional network of protein-based molecules and other macromolecules that provide structural and biochemical support to tissues. Depending on its biochemical and structural properties, the extracellul...

  • Article
  • Open Access
12 Citations
10,600 Views
19 Pages

Analytical Validation and Clinical Utilization of the Oncomine Comprehensive Assay Plus Panel for Comprehensive Genomic Profiling in Solid Tumors

  • Catherine I. Dumur,
  • Ramakrishnan Krishnan,
  • Jorge A. Almenara,
  • Kathleen E. Brown,
  • Kailyn R. Dugan,
  • Christiana Farni,
  • Fatima Z. Ibrahim,
  • Naomi A. Sanchez,
  • Sumra Rathore and
  • Jonathan H. Hughes
  • + 1 author

7 June 2023

The detection of driver oncogenic variants and the recent identification of tumor-agnostic genomic biomarkers has driven the use of comprehensive genomic profiling (CGP) for disease diagnosis, prognosis, and treatment selection. The Oncomine™ C...

  • Article
  • Open Access
10 Citations
4,224 Views
12 Pages

28 July 2023

Background: Understanding the distribution of HPV types in cervical cancer cases is crucial for evaluating the effectiveness of HPV screening and vaccination in reducing cervical cancer burden. This study aimed to assess genotype prevalence in the pr...

  • Article
  • Open Access
9 Citations
5,793 Views
12 Pages

25 March 2023

Background: A plethora of data supports HPV-based screening to be the preferred strategy for cervical cancer prevention. The shift to a more sensitive first-line test brings the need of effective triage up for discussion. Currently, most algorithms a...

  • Review
  • Open Access
8 Citations
8,131 Views
12 Pages

Rheumatoid Arthritis: What Inflammation Do We Face?

  • Anastasia V. Poznyak,
  • Tatyana Vladimirovna Kirichenko,
  • Dmitry Felixovich Beloyartsev,
  • Alexey V. Churov,
  • Tatiana Ivanovna Kovyanova,
  • Irina Alexandrovna Starodubtseva,
  • Vasily N. Sukhorukov,
  • Stanislav A. Antonov and
  • Alexander N. Orekhov

8 October 2024

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by symmetrical joint inflammation, cartilage degradation, and bone erosion. This review explores the multifaceted aspects of RA pathogenesis, focusing on the dynamic interplay be...

  • Review
  • Open Access
8 Citations
17,351 Views
18 Pages

Basal Cell Carcinoma: Diagnosis, Management and Prevention

  • Peerzada Umar Farooq Baba,
  • Ashfaq ul Hassan,
  • Junaid Khurshid and
  • Adil Hafeez Wani

10 April 2024

Basal cell carcinoma (BCC) is a slow-growing, locally aggressive, rarely metastasizing, low-grade cutaneous neoplasm that arises from the epidermal basal layer and invades the adjoining tissues. It is the most common skin cancer. It is fairly common...

  • Review
  • Open Access
6 Citations
5,278 Views
30 Pages

A balanced excitatory/inhibitory (E/I) tone is crucial for proper brain function, and disruptions can lead to neurological disorders. This review explores the role of astrocytes in maintaining a balanced E/I tone in the brain, which is crucial for pr...

  • Review
  • Open Access
6 Citations
3,493 Views
15 Pages

13 November 2024

Periodontal disease remains a significant global health concern, characterized by complex host–pathogen interactions leading to tissue destruction. This review explored the role of pattern recognition receptors (PRRs) in the pathogenesis of per...

  • Article
  • Open Access
6 Citations
2,376 Views
25 Pages

10 September 2024

Background: Alcohol-related brain degeneration (ARBD) is associated with cognitive–motor impairments that can progress to disability and dementia. White matter (WM) is prominently targeted in ARBD due to chronic neurotoxic and degenerative effe...

  • Review
  • Open Access
6 Citations
4,715 Views
17 Pages

25 September 2023

Glioblastoma (GBM) is considered the most aggressive primary brain tumor. Recurrence after treatment is a significant problem with a failed response to optimal therapies. The recurrence of GBM is linked to different cellular and molecular pathways. N...

  • Article
  • Open Access
6 Citations
4,134 Views
10 Pages

Novel Approach to Proficiency Testing Highlights Key Practice Variations in Cancer Biomarker Delivery

  • Kassandra R. Bisson,
  • Jennifer R. Won,
  • Andrea Beharry,
  • Michael D. Carter,
  • Shaan Dudani,
  • John G. Garratt,
  • Jonathan M. Loree,
  • Stephanie Snow,
  • Stephen Yip and
  • Brandon S. Sheffield

5 January 2024

Biomarkers are fundamental to modern oncology practice, forming a close link to pathology practice. Pathology results must be accurate, timely, comprehensive, and comprehendible. External proficiency testing is a key tool in maintaining biomarker qua...

  • Article
  • Open Access
6 Citations
9,033 Views
17 Pages

AI-Enhanced Blood Cell Recognition and Analysis: Advancing Traditional Microscopy with the Web-Based Platform IKOSA

  • Manuel Campos-Medina,
  • Aiden Blumer,
  • Patrick Kraus-Füreder,
  • Michael Mayrhofer-Reinhartshuber,
  • Philipp Kainz and
  • Johannes A. Schmid

25 January 2024

Microscopy of stained blood smears is still a ubiquitous technique in pathology. It is often used in addition to automated electronic counters or flow cytometers to evaluate leukocytes and their morphologies in a rather simple manner and has low requ...

  • Review
  • Open Access
6 Citations
4,608 Views
15 Pages

7 December 2023

A tight association between inflammation and cardiac damage has been extensively recognized. In this review, we will focus on macrophages as key players in the physiology and pathology of the heart and on their role in the functional crosstalk betwee...

  • Review
  • Open Access
6 Citations
7,876 Views
26 Pages

Cancer remains a leading global health challenge, with conventional diagnostic and treatment methods often lacking precision and adaptability. This review explores transformative advancements that are reshaping oncology by addressing these limitation...

  • Review
  • Open Access
5 Citations
6,449 Views
12 Pages

DICER1 Tumor Syndrome: A Retrospective Review and Future Perspectives

  • Gerardo Cazzato,
  • Nadia Casatta,
  • Carmelo Lupo,
  • Giuseppe Ingravallo and
  • Domenico Ribatti

1 July 2024

DICER1 syndrome, a rare autosomal dominant genetic disorder, stems from mutations in the DICER1 gene, disrupting RNA interference and leading to various tumors. These tumors, affecting organs like the lung, kidney, ovaries, and brain, pose diagnostic...

  • Article
  • Open Access
5 Citations
5,088 Views
17 Pages

Human Metastatic Melanoma Cell Lines Panel for In Vitro and In Vivo Investigations

  • Ekaterina N. Kosobokova,
  • Nadezhda A. Kalinina,
  • Ksenia M. Konoplina,
  • Anastasiia A. Malchenkova,
  • Alexandra E. Evdokimova,
  • Marina V. Piniugina,
  • Irina I. Khan,
  • Ilya A. Kislyak,
  • Anna A. Basharina and
  • Vyacheslav S. Kosorukov
  • + 6 authors

8 January 2024

The melanoma origin of cell lines obtained from the axillary lymph node (mel Kas, mel Pet, and mel Lap from patients with a verified diagnosis) was confirmed by the detection of the Melan A melanocyte marker expression. A hyperdiploid (2n+) for the m...

  • Article
  • Open Access
5 Citations
3,492 Views
15 Pages

6 February 2024

The RYK gene encodes a receptor-like tyrosine kinase crucial for several biological processes, including development, tissue homeostasis, and cancer. This study utilized data from the Cancer Genome Atlas Project (TCGA) to evaluate RYK expression at b...

  • Article
  • Open Access
4 Citations
3,367 Views
25 Pages

Mobilising Collaboration among Stakeholders to Optimise the Growing Potential of Data for Tackling Cancer

  • Denis Horgan,
  • Marc Van den Bulcke,
  • Umberto Malapelle,
  • Nicola Normanno,
  • Ettore D. Capoluongo,
  • Arsela Prelaj,
  • Carmelo Rizzari,
  • Aliki Stathopoulou,
  • Jaya Singh and
  • Eric Solary
  • + 14 authors

27 October 2023

Effective cancer diagnosis, treatment and control depend on interactions among numerous distinct factors, from technology to data to skills to sociology. But a crucial influence is the extent to which the health system takes account of the distinct p...

  • Review
  • Open Access
4 Citations
6,364 Views
28 Pages

Liquid Biopsy in Advanced Colorectal Cancer: Clinical Applications of Different Analytes

  • Marco Donatello Delcuratolo,
  • Andrea Modrego-Sánchez,
  • Maristella Bungaro,
  • Beatriz Antón-Pascual,
  • Santiago Teran,
  • Valentina Dipace,
  • Silvia Novello,
  • Rocio Garcia-Carbonero,
  • Francesco Passiglia and
  • Cristina Graválos-Castro

5 July 2023

Colorectal cancer is one of the most prevalent cancers nowadays. In the metastatic setting, diagnosis and treatment have relied on tumor tissue analysis. However, the different limitations of this approach have recently opened the door to the introdu...

  • Review
  • Open Access
3 Citations
2,247 Views
16 Pages

Role of Cathelicidins in Atherosclerosis and Associated Cardiovascular Diseases

  • Siarhei A. Dabravolski,
  • Nikolay A. Orekhov,
  • Alexey V. Churov,
  • Irina A. Starodubtseva,
  • Dmitry F. Beloyartsev,
  • Tatiana I. Kovyanova,
  • Vasily N. Sukhorukov and
  • Alexander N. Orekhov

20 August 2024

Cathelicidins (human LL-37 and rat CRAMP) are multifunctional peptides involved in various cardiovascular conditions. This review integrates the recent findings about the functional involvement of LL-37/CRAMP across atherosclerosis, acute coronary sy...

  • Review
  • Open Access
3 Citations
5,585 Views
19 Pages

Molecular Pathogenesis of Renal Neoplasms in Patients with Birt–Hogg–Dubé Syndrome

  • Behtash G. Nezami,
  • Bin Tean Teh,
  • Xiaoqi Lin and
  • Ximing J. Yang

30 October 2024

Birt–Hogg–Dubé syndrome (BHDS) is an autosomal dominant disease characterized by skin, lung, and renal manifestations. This syndrome is caused by a germline mutation in the FLCN gene, which leads to disruption in multiple downstrea...

  • Article
  • Open Access
3 Citations
2,890 Views
13 Pages

Challenges in Amplicon-Based DNA NGS Identification of MET Exon 14 Skipping Events in Non-Small Cell Lung Cancers

  • Magdalena Jurkiewicz,
  • Raymond Yeh,
  • Catherine A. Shu,
  • Susan J. Hsiao,
  • Mahesh M. Mansukhani,
  • Anjali Saqi and
  • Helen Fernandes

26 February 2025

Introduction: MET Exon 14 skipping alterations are drivers of non-small cell lung carcinoma (NSCLC) with responses to tyrosine kinase inhibitors. Amplicon-based DNA NGS assays (DNA NGSs) for the detection of METex14 skipping can yield false-nega...

  • Review
  • Open Access
3 Citations
2,789 Views
14 Pages

14 December 2024

Calcium ions (Ca2+) are vital intracellular messengers that regulate a multitude of neuronal functions, including synaptic transmission, plasticity, exocytosis, and cell survival. Neuronal cell death can occur through a variety of mechanisms, includi...

  • Review
  • Open Access
3 Citations
6,255 Views
13 Pages

24 April 2024

Endometrial cancer (EC) represents one of the most newly diagnosed cancers across gynecological malignancies. In particular, a plethora of risk factors (both biological and lifestyle-related) drastically impact the incidence rate of novel diagnosis a...

  • Article
  • Open Access
3 Citations
4,147 Views
16 Pages

Liquid Biopsy Profiling with Multiple Tests in Patients with Metastatic Breast Cancer

  • Nikki Higa,
  • Lisa Welter,
  • Liya Xu,
  • Anand Kolatkar,
  • Kelli S. Bramlett,
  • Ole V. Gjoerup,
  • Ryon Graf,
  • Richard S.P. Huang,
  • Rebecca J. Leary and
  • Peter Kuhn
  • + 8 authors

9 May 2024

The chief goal of the Blood Profiling Atlas in Cancer (BloodPAC) consortium is to promote collaborative efforts that support the development and implementation of liquid biopsy tests. Here, we report the results of a pilot study conducted by three Bl...

  • Review
  • Open Access
3 Citations
4,791 Views
19 Pages

Mitochondrial Dynamics in Ovarian Cancer: Pathophysiology and Therapeutic Implications

  • Hiroshi Kobayashi,
  • Chiharu Yoshimoto,
  • Sho Matsubara,
  • Hiroshi Shigetomi and
  • Shogo Imanaka

6 November 2023

Background: Ovarian cancer is often characterized by aggressive growth and chemoresistance, leading to a poor prognosis. The energy and nutrient acquisition through metabolic reprogramming has been reported to facilitate cancer cell proliferation, in...

  • Article
  • Open Access
2 Citations
2,506 Views
20 Pages

14 September 2024

Cardiovascular diseases (CVDs) significantly exacerbate the severity and mortality of COVID-19. We aimed to investigate whether GWAS-significant SNPs correlate with CVDs in severe COVID-19 patients. DNA samples from 199 patients with severe COVID-19...

  • Review
  • Open Access
2 Citations
2,480 Views
10 Pages

The Current Landscape of Molecular Pathology for the Diagnosis and Treatment of Pediatric Medulloblastoma

  • Alayna Koch,
  • Ashley Childress,
  • Emma Vallee,
  • Alyssa Steller and
  • Scott Raskin

Medulloblastoma (MB) is a malignant brain tumor that requires intense multimodal treatment. There is significant treatment-related morbidity associated with MB, and overall prognosis varies between the subgroups of the disease. These tumors were prev...

  • Article
  • Open Access
2 Citations
2,580 Views
11 Pages

Evaluation of Cell-Free DNA Long Fragments in the Triage of FIT+ Patients Enrolled in a Colorectal Cancer Screening Program: An Italian Prospective, Cross-Sectional Study

  • Mauro Scimia,
  • Francesco Pepe,
  • Gianluca Russo,
  • Umberto Malapelle,
  • Simone Scimia,
  • Annalaura Alfieri,
  • Valentina Olivieri,
  • Rachel Chuang,
  • Hiromi Tanaka and
  • Giancarlo Troncone
  • + 8 authors

13 December 2024

Introduction: Colorectal cancer screening programs are effective in reducing incidence and mortality. In Europe, every FIT+ patient is referred to colonoscopy. The available data show that ~75.0% of these patients are negative. It is desirable to sel...

  • Article
  • Open Access
2 Citations
5,332 Views
15 Pages

Comparing Classifications from Multiple Variant Annotation Software Solutions Using Real-World Next Generation Sequencing Data from Oncology Testing

  • Roy Khalife,
  • Tara M. Love,
  • Lara Sucheston-Campbell,
  • Michael J. Clark,
  • Helle Sorensen,
  • Shuba Krishna and
  • Anthony Magliocco

1 March 2024

Variant annotation is an important step in deciphering the functional impact of genomic variants and their association with diseases. In this study, we analyzed 80 pan-cancer cases that underwent comprehensive genomic testing and compared the auto-cl...

  • Case Report
  • Open Access
2 Citations
2,153 Views
9 Pages

Intraoperative Flow Cytometry Upon and Beyond the Cell Cycle: A Case Study of the Characterization of a Bone Metastasis

  • Georgios S. Markopoulos,
  • Emilios E. Pakos,
  • Vasilios Gavrielatos,
  • Dimitrios Kosmas,
  • Ioannis Gkiatas,
  • George A. Alexiou,
  • Anna Batistatou,
  • Evangeli Lampri and
  • George Vartholomatos

25 October 2023

The accurate assessment of malignancy and the precise characterization of cancer type are pivotal in guiding clinical decisions and ensuring optimal patient outcomes. The challenging task of identifying the primary site of carcinoma, especially durin...

  • Article
  • Open Access
2 Citations
4,670 Views
15 Pages

mRNA Expression Level of ALK in Neuroblastoma Is Associated with Histological Subtype, ALK Mutations and ALK Immunohistochemical Protein Expression

  • Rixt S. Bruinsma,
  • Marta F. Fiocco,
  • Wendy W. J. de Leng,
  • Lennart A. Kester,
  • Karin P. S. Langenberg,
  • Godelieve A. M. Tytgat,
  • Max M. van Noesel,
  • Marc H. W. A. Wijnen,
  • Alida F. W. van der Steeg and
  • Ronald R. de Krijger

1 August 2024

ALK is related to poor survival in neuroblastoma patients. We investigated the prognostic relevance of ALK mRNA expression and the relationship with ALK immunohistochemical expression, histological subtype and ALK aberrations. Whole transcriptome seq...

  • Review
  • Open Access
2 Citations
7,407 Views
13 Pages

STING-Associated Vasculopathy with Onset in Infancy: A Review Focusing on Pathophysiology and Treatment Options

  • Konstantinos Drougkas,
  • Roubini Smerla,
  • Charalampos Skarlis and
  • Clio P. Mavragani

13 November 2023

STING-associated vasculopathy with onset in infancy (SAVI) is a rare type Ι interferonopathy caused by gain of function mutations in an encoding stimulator of interferon genes (STING) protein 1. SAVI is characterized by neonatal or infantile-ons...

  • Study Protocol
  • Open Access
2 Citations
5,195 Views
7 Pages

Relationship between Burnout, Cardiovascular Risk Factors, and Inflammatory Markers: A Protocol for Scoping Review

  • Oladimeji Adebayo,
  • Misheck J. Nkhata,
  • Kehinde K. Kanmodi,
  • Taiwo Alatishe,
  • Eyinade Egbedina,
  • Temitope Ojo,
  • Samson Ojedokun,
  • John Oladapo,
  • Abiodun Moshood Adeoye and
  • Lawrence A. Nnyanzi

4 August 2023

Background: Burnout is increasingly being recognized as a contributory factor to the erosion of a positive psychological state. Studies have examined the relationship between burnout and various inflammatory markers such as IL-1, IL-6, and TNF-alpha....

  • Brief Report
  • Open Access
2 Citations
3,432 Views
16 Pages

Technical Validation of a Fully Integrated NGS Platform in the Real-World Practice of Italian Referral Institutions

  • Caterina De Luca,
  • Francesco Pepe,
  • Gianluca Russo,
  • Mariantonia Nacchio,
  • Pasquale Pisapia,
  • Maria Russo,
  • Floriana Conticelli,
  • Lucia Palumbo,
  • Claudia Scimone and
  • Umberto Malapelle
  • + 4 authors

31 October 2023

Aims: To date, precision medicine has played a pivotal role in the clinical administration of solid-tumor patients. In this scenario, a rapidly increasing number of predictive biomarkers have been approved in diagnostic practice or are currently bein...

  • Article
  • Open Access
2 Citations
2,996 Views
10 Pages

Adenoid cystic carcinoma (AdCC) is known to behave differently based on its location, histologic features, and molecular profile. Despite this understanding, efforts to use these molecular findings to develop personalized treatments have not yet been...

  • Article
  • Open Access
2 Citations
2,330 Views
11 Pages

29 November 2023

Aims: This study aims to investigate the potential influence of melanin content on the performance of the Idylla™ BRAF Mutation Test. Specifically, we assess whether melanin levels in samples impact the test’s reliability, thereby validat...

  • Review
  • Open Access
2 Citations
2,568 Views
15 Pages

28 October 2025

Hypoxia-inducible factor prolyl hydroxylase (HIF-PHD) inhibitors, clinically established for treating renal anemia, are emerging as potent immunomodulators with therapeutic potential far beyond erythropoiesis. This review dissects the mechanistic bas...

  • Article
  • Open Access
1 Citations
6,014 Views
12 Pages

Fluorescence In Situ Hybridization (FISH) for the Characterization and Monitoring of Primary Cultures from Human Tumors

  • Ruth Román-Lladó,
  • Cristina Aguado,
  • Núria Jordana-Ariza,
  • Jaume Roca-Arias,
  • Sonia Rodríguez,
  • Erika Aldeguer,
  • Mónica Garzón-Ibañez,
  • Beatriz García-Peláez,
  • Marta Vives-Usano and
  • Miguel Angel Molina-Vila
  • + 8 authors

14 March 2023

Genetic and drug sensitivity assays on primary cultures are not only of basic but also of translational interest and could eventually aid oncologists in the selection of treatments. However, cancer cells need to be identified and differentiated from...

  • Systematic Review
  • Open Access
1 Citations
2,511 Views
25 Pages

In Silico Characterization of Inflammatory and Anti-Inflammatory Modulation in Diabetic Nephropathy: The Construction of a Genetic Panel

  • Caroline Christine Pincela da Costa,
  • Leandro do Prado Assunção,
  • Kamilla de Faria Santos,
  • Laura da Silva,
  • Rodrigo da Silva Santos and
  • Angela Adamski da Silva Reis

31 August 2024

Diabetic Nephropathy (DN) stands as a primary cause of end-stage renal disease and its etiology remains unclear. Thus, this study aims to construct a genetic panel with potential biomarkers linked to the inflammatory pathway of DN associated with the...

  • Article
  • Open Access
1 Citations
2,106 Views
14 Pages

Kolmogorov–Arnold Networks for Automated Diagnosis of Urinary Tract Infections

  • Anurag Dutta,
  • A. Ramamoorthy,
  • M. Gayathri Lakshmi and
  • Pijush Kanti Kumar

Medical diagnostics is an important step in the identification and detection of any disease. Generally, diagnosis requires expert supervision, but in recent times, the evolving emergence of machine intelligence and its widespread applications has nec...

  • Article
  • Open Access
1 Citations
3,088 Views
26 Pages

Background/Objectives: The highly polymorphic Major Histocompatibility Complex (MHC) genomic region, located on the short arm of chromosome 6, is implicated genetically in Parkinson’s disease (PD), a progressive neurodegenerative disorder with...

  • Article
  • Open Access
1 Citations
1,521 Views
12 Pages

Impact of hMLH1 −93G>A (rs1800734) and hMSH2 1032G>A (rs4987188) Polymorphisms on Colorectal Cancer Susceptibility

  • Bayram Bayramov,
  • Nigar Karimova,
  • Nigar Mehdiyeva,
  • Hagigat Valiyeva,
  • Rena Karimova,
  • Royal Shirinov,
  • Hazi Aslanov,
  • Zumrud Safarzade,
  • Orkhan Isayev and
  • Nuru Bayramov

Background: This study is the first to investigate the association between colorectal cancer (CRC) risk and the hMLH1 −93G>A and hMSH2 1032G>A polymorphisms of mismatch repair (MMR) genes in the Azerbaijani population. Methods: Peripheral...

  • Article
  • Open Access
1 Citations
10,416 Views
11 Pages

Background: Methylene blue (MB), a versatile redox agent, is emerging as a promising therapeutic in diseases associated with mitochondrial dysfunction. Its ability to optimize the electron transport chain increases ATP synthesis (30–40%) and re...

  • Article
  • Open Access
1 Citations
2,933 Views
20 Pages

7 March 2024

Respiratory viruses are the causative agents responsible for seasonal epidemics and occasional pandemic outbreaks and are a leading cause of death worldwide. Type I interferon (IFNα/β) signaling in the lung epithelial cells plays a major r...

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J. Mol. Pathol. - ISSN 2673-5261