Pathology

Review Pathology

Insights on the potential oncogenic impact of long non-coding RNA nicotinamide nucleotide transhydrogenase antisense RNA 1 in different cancer types; integrating pathway(s) and clinical outcome(s) association

Nada M. El-Sheikh, Ahmed I. Abulsoud, Eman F. Wasfey, Nadia M. Hamdy

Summary: Long non-coding RNAs (lncRNAs) play important roles in cancer, and lncRNA NNT-AS1 is aberrantly expressed in multiple cancers, affecting the development of malignancies.

PATHOLOGY RESEARCH AND PRACTICE (2022)

Review Pathology

Molecular Pathology of Laminopathies

Ji-Yeon Shin, Howard J. Worman

Summary: Nuclear envelope is composed of various components and mutations in genes encoding these components can lead to laminopathies, a group of diseases that selectively affect different tissues or organs. The mechanisms underlying these diseases are still unclear and current hypotheses focus on the impact of nuclear envelope alterations on gene expression and cellular mechanics.

ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE (2022)

Article Clinical Neurology

Chronic sleep deprivation altered the expression of circadian clock genes and aggravated Alzheimer's disease neuropathology

Long Niu, Feng Zhang, Xiaojiao Xu, Yuting Yang, Song Li, Hui Liu, Weidong Le

Summary: Chronic sleep deprivation impaired learning and memory, exacerbating disease progression in Alzheimer's disease (AD) mice. Abnormal expression of clock genes in the circadian rhythm-related nuclei, especially in AD mice, was found after chronic sleep deprivation. Moreover, abnormal tau phosphorylation was accompanied by alterations in BMAL1 protein levels in the retrosplenial cortex.

BRAIN PATHOLOGY (2022)

Review Clinical Neurology

Dysfunction of the blood-brain barrier in Alzheimer's disease: Evidence from human studies

Carolin Kurz, Lauren Walker, Boris-Stephan Rauchmann, Robert Perneczky

Summary: The pathological processes leading to synapse loss, neuronal loss, brain atrophy and gliosis in Alzheimer's disease (AD) are not fully understood. This review focuses on the clinical correlations and pathophysiological concepts of blood-brain barrier (BBB) damage in AD. Specific changes in intercellular structures, reduced expression of transendothelial carriers, and activation of astroglia and monocytes/macrophages characterize BBB damage in AD. Magnetic resonance imaging shows early BBB dysfunction in AD-specific brain regions. Novel therapeutic approaches aim to open the BBB and improve drainage of amyloid-beta (A beta) from the brain.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2022)

Review Immunology

Could SARS-CoV-2 infection affect male fertility and sexuality?

Nicola Delli Muti, Federica Finocchi, Giovanni Tossetta, Gianmaria Salvio, Melissa Cutini, Daniela Marzioni, Giancarlo Balercia

Summary: This review examines the impact of SARS-CoV-2 infection on the male reproductive system, finding that it not only damages the respiratory system but also has serious effects on male reproduction, including deteriorating semen quality and increasing oxidative stress levels. However, due to a limited number of studies, it remains unclear whether these effects are temporary or long-lasting.

APMIS (2022)

Article Pathology

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Nasal Cavity, Paranasal Sinuses and Skull Base

Lester D. R. Thompson, Justin A. Bishop

Summary: The World Health Organization recently published the 5th edition of the Classification of Head and Neck Tumours, which includes updates and classification of tumors in the nasal cavity, paranasal sinuses, and skull base. The new edition reduces the number of diagnostic entries and highlights new and emerging entities.

HEAD & NECK PATHOLOGY (2022)

Article Pathology

HER2-low breast cancers: incidence, HER2 staining patterns, clinicopathologic features, MammaPrint and BluePrint genomic profiles

Huina Zhang, Hani Katerji, Bradley M. Turner, William Audeh, David G. Hicks

Summary: Recent clinical trials have shown promising efficacy for novel HER2-targeted therapies in HER2-low breast cancers, leading to the possibility of including a HER2-low category in the evaluation of breast cancers. This study investigated the incidence, staining patterns, clinicopathologic features, and genomic profile of HER2-low breast cancers, and found that they were more common in ER-positive breast cancers and had similar characteristics to HER2-negative breast cancers in other aspects.

MODERN PATHOLOGY (2022)

Review Pathology

Integrating digital pathology into clinical practice running title: clinical implementation of digital pathology

Matthew G. Hanna, Orly Ardon, Victor E. Reuter, Christine England, David S. Klimstra, Meera R. Hameed

Summary: Anatomic pathology has seen significant advancements in technology in the past few decades, with digital pathology systems integrating into clinical practice to provide new opportunities in the medical field.

MODERN PATHOLOGY (2022)

Article Oncology

Neutrophil extracellular traps drive epithelial-mesenchymal transition of human colon cancer

Antonia M. Stehr, Guangxia Wang, Richard Demmler, Marc P. Stemmler, Julia Krug, Philipp Tripal, Benjamin Schmid, Carol Geppert, Arndt Hartmann, Luis E. Munoz, Janina Schoen, Simon Voelkl, Susanne Merkel, Christoph Becker, Georg Schett, Robert Gruetzmann, Elisabeth Naschberger, Martin Herrmann, Michael Stuerzl

Summary: Neutrophil extracellular traps (NETs), released by neutrophils, have been found in colorectal cancer (CRC) tissues and are associated with disease progression. This study used high-resolution microscopy to detect citrullinated NETs in colon cancer tissues and found that citrullinated NETs were significantly associated with high tumour grades and lymph node metastasis. In vitro experiments also showed that purified NETs induced filopodia formation and cell motility in CRC cell lines, indicating their potential contribution to CRC metastasis.

JOURNAL OF PATHOLOGY (2022)

Review Pathology

Significance of miRNAs on the thyroid cancer progression and resistance to treatment with special attention to the role of cross-talk between signaling pathways

Ahmed S. Doghish, Hesham A. El-Mahdy, Ahmed Ismail, Maghawry Hegazy, Mahmoud Mohamed Mokhtar, Samy Y. Elkhawaga, Mohamed A. Elkady, Amr Mohamed Yehia, Elsayed G. E. Elsakka

Summary: Thyroid cancer is the most common endocrine malignant tumor, with various types such as papillary thyroid cancer and follicular thyroid carcinoma. Risk factors for thyroid cancer include radiation exposure, autoimmunity, and genetics. MicroRNA plays a crucial role in thyroid cancer by inhibiting the expression of multiple target genes and influencing tumor proliferation, angiogenesis, apoptosis, development, and resistance to therapy.

PATHOLOGY RESEARCH AND PRACTICE (2023)

Article Pathology

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin

Visar Vela, Darius Juskevicius, Stefan Dirnhofer, Thomas Menter, Alexandar Tzankov

Summary: This meta-analysis provides a concise summary of the genetic landscape of different types of MZL in various organs, showing the origin-specific distribution of distinct gene mutations, which may facilitate the identification of MZL origin and potential tailored treatment strategies.

VIRCHOWS ARCHIV (2022)

Review Immunology

Bile acids and their receptors: modulators and therapeutic targets in liver inflammation

Anna Bertolini, Romina Fiorotto, Mario Strazzabosco

Summary: Bile acids not only play a role in digestion and absorption, but also have potential therapeutic value in regulating metabolism and immune function for the treatment of liver diseases.

SEMINARS IN IMMUNOPATHOLOGY (2022)

Review Medical Laboratory Technology

Hemophagocytic Lymphohistiocytosis

Tanya Sajan Ponnatt, Cullen M. Lilley, Kamran M. Mirza

Summary: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disorder of immune regulation that requires rapid diagnosis and aggressive management. Understanding the pathogenesis and early diagnosis of HLH plays a crucial role in determining patient outcome. HLH can be caused by genetic mutations or acquired factors, and proper management is essential for improving prognosis.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2022)

Article Cell Biology

Primary high-grade non-anaplastic thyroid carcinoma: a retrospective study of 364 cases

Bin Xu, Julia David, Snjezana Dogan, Inigo Landa, Nora Katabi, Maelle Saliba, Anjanie Khimraj, Eric J. Sherman, Robert Michael Tuttle, Giovanni Tallini, Ian Ganly, James A. Fagin, Ronald A. Ghossein

Summary: This study found that high-grade non-anaplastic thyroid carcinomas (HGTC) can be classified into two distinct subtypes, HGTC-PDTC and HGTC-nonPDTC, based on clinicopathological and molecular features. Factors such as age, gender, tumor characteristics, and molecular alterations have significant impact on prognosis, with the coexistence of BRAF V600E and TERT increasing the risk of metastasis.

HISTOPATHOLOGY (2022)

Review Pathology

Autoimmune mucocutaneous blistering diseases after SARS-Cov-2 vaccination: A Case report of Pemphigus Vulgaris and a literature review

Elena Calabria, Federica Canfora, Massimo Mascolo, Silvia Varricchio, Michele Davide Mignogna, Daniela Adamo

Summary: This study reported a case of oropharyngeal pemphigus vulgaris triggered by the SARS-CoV-2 vaccination and analyzed the clinical and immunological characteristics of AIBDs cases reported after the vaccination. A total of 35 cases of AIBDs triggered by the vaccination were found, with bullous pemphigoid being the most common diagnosis. Despite the potential risk of AIBDs after vaccination, clinicians should encourage patients to get vaccinated to help combat the COVID-19 pandemic.

PATHOLOGY RESEARCH AND PRACTICE (2022)

Review Medicine, Research & Experimental

High-throughput proteomics: a methodological mini-review

Miao Cui, Chao Cheng, Lanjing Zhang

Summary: Proteomics plays a vital role in biomedical research by providing new insights into complex biomedical problems. This mini-review summarizes existing and emerging high-throughput proteomics methodologies and discusses the importance of computational methods and statistical algorithms in maximizing the value of proteomic data. The advances in high-throughput proteomics not only enhance our understanding of disease mechanisms, but also offer potential applications in various fields such as basic research, oncology, precision medicine, and drug discovery.

LABORATORY INVESTIGATION (2022)

Article Pathology

Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1

Aurelien Morini, Tom Drossart, Marc-Olivier Timsit, Mathilde Sibony, Viorel Vasiliu, Anne-Paule Gimenez-Roqueplo, Judith Favier, Cecile Badoual, Arnaud Mejean, Nelly Burnichon, Virginie Verkarre

Summary: The major role of the mTOR pathway in the tumorigenesis of LOT, presence of genetic variations in mTOR pathway related genes, absence of FOXI1 expression as a distinguishing factor, and the potential for targeted therapy in cases of metastasis were highlighted in the study.LOT was considered as a distinct entity with a favorable clinical outcome.

MODERN PATHOLOGY (2022)

Review Clinical Neurology

Classification of adult-type diffuse gliomas: Impact of the World Health Organization 2021 update

Benjamin T. Whitfield, Jason T. Huse

Summary: In the past decade, advancements in molecular profiling have significantly impacted the way cancer types, including primary brain tumors, are diagnosed, classified, and managed. Molecular alterations have allowed for a more refined classification of brain tumors, deviating from the traditional reliance on morphological characteristics. This shift towards molecular classification is evident in the 2021 WHO classification of central nervous system tumors. This review focuses on the recent updates regarding the classification of adult-type diffuse gliomas, which are highly infiltrative and mostly incurable malignancies of the central nervous system. The refinement of molecular criteria holds promise for improving the diagnosis, prognostication, and eventual treatment of these devastating tumors.

BRAIN PATHOLOGY (2022)

Article Clinical Neurology

Distinct characteristics of limbic-predominant age-related TDP-43 encephalopathy in Lewy body disease

Maiko T. Uemura, John L. Robinson, Katheryn A. Q. Cousins, Thomas F. Tropea, Daniel C. Kargilis, Jennifer D. McBride, EunRan Suh, Sharon X. Xie, Yan Xu, Silvia Porta, Norihito Uemura, Vivianna M. Van Deerlin, David A. Wolk, David J. Irwin, Kurt R. Brunden, Virginia M. -Y. Lee, Edward B. Lee, John Q. Trojanowski

Summary: Limbic-predominant age-related TDP-43 encephalopathy (LATE) is characterized by the accumulation of TAR-DNA-binding protein 43 (TDP-43) aggregates in older adults and coexists with Lewy body disease (LBD) and Alzheimer's disease (AD). Pathological and genetic characteristics of LATE in LBD (LATE-LBD) differ from LATE-AD, with associations to patient profiles and cognitive impairment. The distribution of LATE neuropathological changes and genetic risk factors also vary between LATE-LBD and LATE-AD.

ACTA NEUROPATHOLOGICA (2022)

Review Oncology

Cancer-associated fibroblasts in pancreatic cancer: new subtypes, new markers, new targets

Shinelle Menezes, Mohamed Hazem Okail, Siti Munira Abd Jalil, Hemant M. Kocher, Angus J. M. Cameron

Summary: This article discusses the conflicting roles of cancer-associated fibroblasts (CAFs) in tumor promotion and suppression, as well as therapeutic strategies. It highlights the heterogeneity of CAF subtypes and their association with patient prognosis and therapy response. Targeting CAF subtypes associated with immunotherapy response may provide new options for pancreatic cancer treatment.

JOURNAL OF PATHOLOGY (2022)