Entitäten der Weichteilsarkome

Petersen, Iver

doi:10.1007/s10039-017-0339-6

Cited by 4 publications

(6 citation statements)

References 26 publications

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“…They can roughly be subdivided into two groups: entities with single, well-characterized driver mutations and sarcomas with a complex genotype (Petersen 2017).…”

Section: Discussionmentioning

confidence: 99%

“…Worth noting is that trauma, whether etiologically related to a tumor or proven to be indulged in tumor-emergence by causing specific genetic alterations, should be regarded as more than just a random co-incidence. The emergence of mutations, for example, may be favored in the proliferative state that occurs within fibroblasts in the setting of a trauma (Petersen 2017).…”

Section: Environmental Factorsmentioning

confidence: 99%

“…It is important to note that synovial sarcoma is characterized by a recurrent pattern of DNA methylation that can be used to separate and diagnose this entity against 50 other soft tissue tumor types using genome-wide methylation analysis and bioinformatical classification algorithms. The methylome analysis provides in addition a global gene copy profile which may help to establish prognostic subgroups of this entity (Petersen 2017;Köelsche et al 2015).…”

Section: Future Sarcoma Diagnosticsmentioning

confidence: 99%

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Stem cell transcription factor SOX2 in synovial sarcoma and other soft tissue tumors

Zayed

Petersen

2018

Pathology - Research and Practice

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The data confirms previous studies reporting SOX2 and H3K27me3 expression in synovial sarcoma and reveals that both biomarkers are related to each other. It strengthens the notion that the tumor type is driven by epigenetic processes similar to those that are operating in pluripotent stem cells. The relevance of these parameters in the pathway pathology of synovial sarcoma, i.e. the timing and dosing of SOX2 and H3K27me3 expression initiated by the SS18-SSX driver mutation together with the interplay of these events with other signaling pathways, cellular mechanisms and additional mutations in tumor progression, will require further studies.

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“…They can roughly be subdivided into two groups: entities with single, well-characterized driver mutations and sarcomas with a complex genotype (Petersen 2017).…”

Section: Discussionmentioning

confidence: 99%

Section: Environmental Factorsmentioning

confidence: 99%

Section: Future Sarcoma Diagnosticsmentioning

confidence: 99%

See 1 more Smart Citation

Stem cell transcription factor SOX2 in synovial sarcoma and other soft tissue tumors

Zayed

Petersen

2018

Pathology - Research and Practice

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“…Whole-genome methylation analysis combined with bioinformatical analysis has recently been shown to be able to classify more than 100 different brain tumor subtypes [12]. In a similar manner, this technique is able to correctly classify up to 100 rare soft tissue tumor entities [13,14]. In addition, this technique is helpful in identifying carcinomas of unknown primary sites [53].…”

Section: Analytical Tools In Pathway Pathology-whole-genome Analysismentioning

confidence: 98%

“…Recently, methylome profiling was used to identify more than 100 rare brain tumor subtypes which are difficult to classify by utilizing non-specialty pathologists [12]. The same methodology is also able to classify soft tissue tumors [13,14].…”

Section: Big Data In Disease Classification Predictive Pathology and Precision Medicinementioning

confidence: 99%

Classification and Treatment of Diseases in the Age of Genome Medicine Based on Pathway Pathology

Petersen

2021

IJMS

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The focus of pathology as a biomedical discipline is the identification of the pathomechanisms of diseases and the integration of this knowledge into routine diagnosis and classification. Standard tools are macroscopic and microscopic analysis complemented by immunohistochemistry and molecular pathology. So far, classification has been based on the paradigm of cellular pathology established by Rudolf Virchow and others more than 150 years ago, stating that diseases originate from diseased cells. This dogma is meanwhile challenged by the fact that cells can be fully reprogrammed. Many diseases are nowadays considered to originate from undifferentiated stem cells, induced into a diseased state by genetic or epigenetic alterations. In addition, the completion of the Human Genome Project, with the identification of more than 20.000 genes and a much higher number of gene variants and mutations, led to the concept that diseases are dominated by genetics/epigenetics rather than cells of origin. The axiom of cellular pathology, however, still holds true, as cells are the smallest animate units from which diseases originate. Medical doctors and researchers nowadays have to deal with a tremendous amount of data. The International Classification of Diseases will expand from 14.400 entities/codes in ICD-10 to more than 55.000 in ICD-11. In addition, large datasets generated by “genomics“, e.g., whole-genome sequencing, expression profiling or methylome analysis, are meanwhile not only applied in research but also introduced into clinical settings. It constitutes a major task to incorporate all the data into routine medical work. Pathway pathology may help solve this problem. It is based on the realization that diseases are characterized by three essential components: (i) cells of origin/cellular context and (ii) the alteration of cellular as well as (iii) molecular/signal transduction pathways. The concept is illustrated by elaborating on two key cellular pathways, i.e., the cellular senescence of normal cells and the immortality of cancer cells, and by contrasting single cell/single pathway diseases, such as mycoplasma and coughing pneumonia, with complex diseases such as cancer, with multiple cell types as well as multiple affected cellular and signaling pathways. Importantly, the concept of pathway pathology is not just intended to classify disease, but also to conceive new treatment modalities. This article is dedicated to Dr. Leonard Hayflick, who made basic discoveries in pathway pathology not only by identifying cells causing disease (Mycoplasma pneumoniae) and establishing cell strains for treating disease (WI-38 for viral vaccines), but also by first describing cellular senescence and immortality.

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Neues zur Thoraxpathologie

Petersen

2019

Pathologe

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Entitäten der Weichteilsarkome

Cited by 4 publications

References 26 publications

Stem cell transcription factor SOX2 in synovial sarcoma and other soft tissue tumors

Stem cell transcription factor SOX2 in synovial sarcoma and other soft tissue tumors

Classification and Treatment of Diseases in the Age of Genome Medicine Based on Pathway Pathology

Neues zur Thoraxpathologie

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