Toward Explainable Artificial Intelligence for Precision Pathology
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-113147. Online ahead of print.ABSTRACTThe rapid development of precision medicine in recent years has started to challenge diagnostic pathology with respect to its ability to analyze histological images and increasingly large molecular profiling data in a quantitative, integrative, and standardized way. Artificial intelligence (AI) and, more precisely, deep learning technologies have recently demonstrated the potential to facilitate complex data analysis tasks, including clinical, histological, and molecular data for disease classification; tissue biomar...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Frederick Klauschen Jonas Dippel Philipp Keyl Philipp Jurmeister Michael Bockmayr Andreas Mock Oliver Buchstab Maximilian Alber Lukas Ruff Gr égoire Montavon Klaus-Robert M üller Source Type: research

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-121126. Online ahead of print.ABSTRACTThe enzyme ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes extracellular ATP to generate pyrophosphate (PPi) and adenosine monophosphate, thereby contributing to downstream purinergic signaling pathways. The clinical phenotypes induced by ENPP1 deficiency are seemingly contradictory and include early-onset osteoporosis in middle-aged adults and life-threatening vascular calcifications in the large arteries of infants with generalized arterial ca...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Carlos R Ferreira Thomas O Carpenter Demetrios T Braddock Source Type: research

Toward Explainable Artificial Intelligence for Precision Pathology
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-113147. Online ahead of print.ABSTRACTThe rapid development of precision medicine in recent years has started to challenge diagnostic pathology with respect to its ability to analyze histological images and increasingly large molecular profiling data in a quantitative, integrative, and standardized way. Artificial intelligence (AI) and, more precisely, deep learning technologies have recently demonstrated the potential to facilitate complex data analysis tasks, including clinical, histological, and molecular data for disease classification; tissue biomar...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Frederick Klauschen Jonas Dippel Philipp Keyl Philipp Jurmeister Michael Bockmayr Andreas Mock Oliver Buchstab Maximilian Alber Lukas Ruff Gr égoire Montavon Klaus-Robert M üller Source Type: research

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-121126. Online ahead of print.ABSTRACTThe enzyme ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes extracellular ATP to generate pyrophosphate (PPi) and adenosine monophosphate, thereby contributing to downstream purinergic signaling pathways. The clinical phenotypes induced by ENPP1 deficiency are seemingly contradictory and include early-onset osteoporosis in middle-aged adults and life-threatening vascular calcifications in the large arteries of infants with generalized arterial ca...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Carlos R Ferreira Thomas O Carpenter Demetrios T Braddock Source Type: research

Toward Explainable Artificial Intelligence for Precision Pathology
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-113147. Online ahead of print.ABSTRACTThe rapid development of precision medicine in recent years has started to challenge diagnostic pathology with respect to its ability to analyze histological images and increasingly large molecular profiling data in a quantitative, integrative, and standardized way. Artificial intelligence (AI) and, more precisely, deep learning technologies have recently demonstrated the potential to facilitate complex data analysis tasks, including clinical, histological, and molecular data for disease classification; tissue biomar...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Frederick Klauschen Jonas Dippel Philipp Keyl Philipp Jurmeister Michael Bockmayr Andreas Mock Oliver Buchstab Maximilian Alber Lukas Ruff Gr égoire Montavon Klaus-Robert M üller Source Type: research

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-121126. Online ahead of print.ABSTRACTThe enzyme ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes extracellular ATP to generate pyrophosphate (PPi) and adenosine monophosphate, thereby contributing to downstream purinergic signaling pathways. The clinical phenotypes induced by ENPP1 deficiency are seemingly contradictory and include early-onset osteoporosis in middle-aged adults and life-threatening vascular calcifications in the large arteries of infants with generalized arterial ca...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Carlos R Ferreira Thomas O Carpenter Demetrios T Braddock Source Type: research

Toward Explainable Artificial Intelligence for Precision Pathology
Annu Rev Pathol. 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-113147. Online ahead of print.ABSTRACTThe rapid development of precision medicine in recent years has started to challenge diagnostic pathology with respect to its ability to analyze histological images and increasingly large molecular profiling data in a quantitative, integrative, and standardized way. Artificial intelligence (AI) and, more precisely, deep learning technologies have recently demonstrated the potential to facilitate complex data analysis tasks, including clinical, histological, and molecular data for disease classification; tissue biomar...
Source: Annual Review of Pathology - October 23, 2023 Category: Pathology Authors: Frederick Klauschen Jonas Dippel Philipp Keyl Philipp Jurmeister Michael Bockmayr Andreas Mock Oliver Buchstab Maximilian Alber Lukas Ruff Gr égoire Montavon Klaus-Robert M üller Source Type: research

Within-Host Evolution of Bacterial Pathogens in Acute and Chronic Infection
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-051122-111408. Online ahead of print.ABSTRACTBacterial pathogens undergo remarkable adaptive change in response to the selective forces they encounter during host colonization and infection. Studies performed over the past few decades have demonstrated that many general evolutionary processes can be discerned during the course of host adaptation, including genetic diversification of lineages, clonal succession events, convergent evolution, and balanced fitness trade-offs. In some cases, elevated mutation rates resulting from mismatch repair or proofreading defi...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: John P Dekker Source Type: research

Neurodegenerative Disease Tauopathies
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-051222-120750. Online ahead of print.ABSTRACTTauopathies are a diverse group of progressive and fatal neurodegenerative diseases characterized by aberrant tau inclusions in the central nervous system. Tau protein forms pathologic fibrillar aggregates that are typically closely associated with neuronal cell death, leading to varied clinical phenotypes including dementia, movement disorders, and motor neuron disease. In this review, we describe the clinicopathologic features of tauopathies and highlight recent advances in understanding the mechanisms that lead to...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Benjamin C Creekmore Ryohei Watanabe Edward B Lee Source Type: research

Epigenomic Characterization of Lymphoid Neoplasms
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-051122-100856. Online ahead of print.ABSTRACTLymphoid neoplasms represent a heterogenous group of disease entities and subtypes with markedly different molecular and clinical features. Beyond genetic alterations, lymphoid tumors also show widespread epigenomic changes. These severely affect the levels and distribution of DNA methylation, histone modifications, chromatin accessibility, and three-dimensional genome interactions. DNA methylation stands out as tracer of cell identity and memory, as B cell neoplasms show epigenetic imprints of their cellular origin ...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Mart í Duran-Ferrer Jos é Ignacio Martín-Subero Source Type: research

Hypoxia-Induced Signaling in Gut and Liver Pathobiology
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-051122-094743. Online ahead of print.ABSTRACTOxygen (O2) is essential for cellular metabolism and biochemical reactions. When the demand for O2 exceeds the supply, hypoxia occurs. Hypoxia-inducible factors (HIFs) are essential to activate adaptive and survival responses following hypoxic stress. In the gut (intestines) and liver, oxygen gradients or physiologic hypoxia are necessary to maintain normal homeostasis. While physiologic hypoxia is beneficial and aids in normal functions, pathological hypoxia is harmful as it exacerbates inflammatory responses and ti...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Sumeet Solanki Yatrik M Shah Source Type: research

Role of the Microenvironment in Glioma Pathogenesis
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-051122-110348. Online ahead of print.ABSTRACTGliomas are a diverse group of primary central nervous system tumors that affect both children and adults. Recent studies have revealed a dynamic cross talk that occurs between glioma cells and components of their microenvironment, including neurons, astrocytes, immune cells, and the extracellular matrix. This cross talk regulates fundamental aspects of glioma development and growth. In this review, we discuss recent discoveries about the impact of these interactions on gliomas and highlight how tumor cells actively ...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Maya Anjali Jayaram Joanna J Phillips Source Type: research

Cancer as a Disease of Development Gone Awry
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-031621-025610. Online ahead of print.ABSTRACTIn the 160 years since Rudolf Virchow first postulated that neoplasia arises by the same law that regulated the embryonic development, scientists have come to recognize the striking overlap between the molecular and cellular programs used by cancers and embryos. Advances in cancer biology and molecular techniques have further highlighted the similarities between carcinogenesis and embryogenesis, where cellular growth, differentiation, motility, and intercellular cross talk are mediated by common drivers and regulator...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Ben Z Stanger Geoffrey M Wahl Source Type: research

Comparative Pathogenesis of Severe Acute Respiratory Syndrome Coronaviruses
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathol-052620-121224. Online ahead of print.ABSTRACTOver the last two decades the world has witnessed the global spread of two genetically related highly pathogenic coronaviruses, severe acute respiratory syndrome coronavirus (SARS-CoV) and SARS-CoV-2. However, the impact of these outbreaks differed significantly with respect to the hospitalizations and fatalities seen worldwide. While many studies have been performed recently on SARS-CoV-2, a comparative pathogenesis analysis with SARS-CoV may further provide critical insights into the mechanisms of disease that drive cor...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Jingshu Zhang Melanie Rissmann Thijs Kuiken Bart L Haagmans Source Type: research

Genome Instability and DNA Repair in Somatic and Reproductive Aging
Annu Rev Pathol. 2023 Oct 13. doi: 10.1146/annurev-pathmechdis-051122-093128. Online ahead of print.ABSTRACTGenetic material is constantly subjected to genotoxic insults and is critically dependent on DNA repair. Genome maintenance mechanisms differ in somatic and germ cells as the soma only requires maintenance during an individual's lifespan, while the germline indefinitely perpetuates its genetic information. DNA lesions are recognized and repaired by mechanistically highly diverse repair machineries. The DNA damage response impinges on a vast array of homeostatic processes and can ultimately result in cell fate changes...
Source: Annual Review of Pathology - October 13, 2023 Category: Pathology Authors: Stephanie Panier Siyao Wang Bj örn Schumacher Source Type: research