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Der Hautarzt; Zeitschrift Fur... Oct 2019Using current diagnostic tools for hand eczema, namely clinical picture and histology, differential diagnoses such as psoriasis palmaris usually cannot be ruled out. (Review)
Review
BACKGROUND
Using current diagnostic tools for hand eczema, namely clinical picture and histology, differential diagnoses such as psoriasis palmaris usually cannot be ruled out.
OBJECTIVES
Discussion of current diagnostic possibilities for hand eczema; presentation and critical evaluation of proposed biomarkers for molecular diagnostics and outlook how diagnostics in dermatology will change in the near future.
MATERIALS AND METHODS
In this article, we discuss basic research and provide a review of the literature.
RESULTS
Molecular diagnostics has the potential to substantially improve diagnosis of hand eczema; prerequisites are prospective validation of proposed markers and availability of valid and cost-effective diagnostics.
CONCLUSIONS
In the near future, the diagnosis of hand eczema will be complemented by software algorithms and artificial intelligence on the one hand and simple, precise, and economic molecular diagnostic devices on the other.
Topics: Algorithms; Artificial Intelligence; Dermatology; Eczema; Hand Dermatoses; Humans; Pathology, Molecular; Precision Medicine; Software
PubMed: 31468073
DOI: 10.1007/s00105-019-4466-9 -
Virchows Archiv : An International... Feb 2024Classification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal... (Review)
Review
Classification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal tract, oropharynx, nasopharynx, and soft tissue. Availability of new molecular techniques allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, the expanding spectrum of immunohistochemical markers facilitates a rapid identification of diagnostic molecular abnormalities. As such, it is currently possible for head and neck pathologists to benefit from a molecularly defined classifications, while making diagnoses that are still based largely on histopathology and immunohistochemistry. This review highlights some principal molecular alterations in head and neck neoplasms presently available to assist pathologists in the practice of diagnosis, prognostication and prediction of response to treatment.
Topics: Humans; Pathology, Molecular; Head and Neck Neoplasms; Salivary Glands; Immunohistochemistry; Pathologists
PubMed: 38217715
DOI: 10.1007/s00428-023-03731-2 -
Surgical Pathology Clinics Sep 2021Despite the apparent complexity of the molecular genetic underpinnings of myeloid neoplasms, most myeloid mutational profiles can be understood within a simple... (Review)
Review
Despite the apparent complexity of the molecular genetic underpinnings of myeloid neoplasms, most myeloid mutational profiles can be understood within a simple framework. Somatic mutations accumulate in hematopoietic stem cells with aging and toxic insults, termed clonal hematopoiesis. These "old stem cells" mutations, predominantly in the epigenetic and RNA spliceosome pathways, act as "founding" driver mutations leading to a clonal myeloid neoplasm when sufficient in number and clone size. Subsequent mutations can create the genetic flavor of the myeloid neoplasm ("backseat" drivers) due to their enrichment in certain entities or act as progression events ("aggressive" drivers) during clonal evolution.
Topics: Clonal Evolution; Hematopoiesis; Humans; Mutation; Myeloproliferative Disorders; Neoplasms; Pathology, Molecular
PubMed: 34373100
DOI: 10.1016/j.path.2021.05.013 -
Archives of Pathology & Laboratory... Nov 2021
Topics: Biopsy; Cytodiagnosis; Diagnosis, Differential; Humans; Immunohistochemistry; Molecular Diagnostic Techniques; Pathology, Molecular; Pathology, Surgical; Predictive Value of Tests; Reproducibility of Results
PubMed: 34673909
DOI: 10.5858/arpa.2021-0375-ED -
Journal of Clinical Pathology Nov 2019Neurodegenerative diseases are characterised by selective dysfunction and progressive loss of synapses and neurons associated with pathologically altered proteins that... (Review)
Review
Neurodegenerative diseases are characterised by selective dysfunction and progressive loss of synapses and neurons associated with pathologically altered proteins that deposit primarily in the human brain and spinal cord. Recent discoveries have identified a spectrum of distinct immunohistochemically and biochemically detectable proteins, which serve as a basis for protein-based disease classification. Diagnostic criteria have been updated and disease staging procedures have been proposed. These are based on novel concepts which recognise that (1) most of these proteins follow a sequential distribution pattern in the brain suggesting a seeding mechanism and cell-to-cell propagation; (2) some of the neurodegeneration-associated proteins can be detected in peripheral organs; and (3) concomitant presence of neurodegeneration-associated proteins is more the rule than the exception. These concepts, together with the fact that the clinical symptoms do not unequivocally reflect the molecular pathological background, place the neuropathological examination at the centre of requirements for an accurate diagnosis. The need for quality control in biomarker development, clinical and neuroimaging studies, and evaluation of therapy trials, as well as an increasing demand for the general public to better understand human brain disorders, underlines the importance for a renaissance of postmortem neuropathological studies at this time. This review summarises recent advances in neuropathological diagnosis and reports novel aspects of relevance for general pathological practice.
Topics: Biomarkers; Biopsy; Humans; Immunohistochemistry; Nerve Tissue Proteins; Nervous System; Neurodegenerative Diseases; Pathology, Molecular; Predictive Value of Tests; Prognosis; Reproducibility of Results
PubMed: 31395625
DOI: 10.1136/jclinpath-2019-205952 -
Expert Opinion on Therapeutic Targets Jan 2022
Topics: Humans; Pancreatic Neoplasms; Pathology, Molecular
PubMed: 34936525
DOI: 10.1080/14728222.2022.2021397 -
Analytical Methods : Advancing Methods... Sep 2021As the COVID-19 pandemic continues to escalate globally and acquires new mutations, accurate diagnostic technologies continue to play a vital role in controlling and... (Review)
Review
As the COVID-19 pandemic continues to escalate globally and acquires new mutations, accurate diagnostic technologies continue to play a vital role in controlling and understanding the epidemiology of this disease. A plethora of technologies have enabled the diagnosis of individuals, informed clinical management, aided population-wide screening to determine transmission rates and identified cases within the wider community and high-risk settings. This review explores the application of molecular diagnostics technologies in controlling the spread of COVID-19, and the key factors that affect the sensitivity and specificity of the tests used.
Topics: COVID-19; Humans; Pandemics; Pathology, Molecular; SARS-CoV-2; Sensitivity and Specificity
PubMed: 34473144
DOI: 10.1039/d1ay00947h -
Pathologie (Heidelberg, Germany) Dec 2023Germ cell tumors (GCTs) are now considered a curable cancer, with a > 95% cure rate in all patients and about 90% cure rate in patients with metastatic disease. The... (Review)
Review
Germ cell tumors (GCTs) are now considered a curable cancer, with a > 95% cure rate in all patients and about 90% cure rate in patients with metastatic disease. The success of physicians in curing the disease is underpinned by multidisciplinary advances. Of relevance in this regard are the nowadays-applied homogeneous terminology based on pathologically better characterized testicular neoplasms and the development of a widely used risk stratification model for metastatic disease introduced by the International Germ Cell Cancer Collaborative Group in 1997 and updated in 2021. Non-pulmonary visceral metastases, high levels of the serum tumor markers alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG), and primary mediastinal non-seminoma are currently identified as determinants of poor prognosis. In addition, the presence of distinct microRNA profiles between seminomas and non-seminoma GCTs has opened up important perspectives in terms of noninvasive biomarkers that can be used in diagnosis and treatment monitoring.
Topics: Male; Humans; Testicular Neoplasms; alpha-Fetoproteins; Pathology, Molecular; Neoplasm Staging; Neoplasms, Germ Cell and Embryonal; Seminoma
PubMed: 37975918
DOI: 10.1007/s00292-023-01264-8 -
Neurologic Clinics Feb 2021Neuro-oncology is a rapidly developing field. A continuous evolution in the understanding of the molecular underpinnings of central nervous system tumors has helped... (Review)
Review
Neuro-oncology is a rapidly developing field. A continuous evolution in the understanding of the molecular underpinnings of central nervous system tumors has helped reconfigure the classification of brain tumors. More importantly, it has laid the path forward for the development and investigation of new therapeutics. The authors discuss the classification of brain tumors and novel therapies in brain tumors as well as promising treatments underway.
Topics: Brain Neoplasms; Humans; Medical Oncology; Neurology; Pathology, Molecular
PubMed: 33223081
DOI: 10.1016/j.ncl.2020.09.009 -
Virchows Archiv : An International... Feb 2024Tumors of the endocrine glands are common. Knowledge of their molecular pathology has greatly advanced in the recent past. This review covers the main molecular... (Review)
Review
Tumors of the endocrine glands are common. Knowledge of their molecular pathology has greatly advanced in the recent past. This review covers the main molecular alterations of tumors of the anterior pituitary, thyroid and parathyroid glands, adrenal cortex, and adrenal medulla and paraganglia. All endocrine gland tumors enjoy a robust correlation between genotype and phenotype. High-throughput molecular analysis demonstrates that endocrine gland tumors can be grouped into molecular groups that are relevant from both pathologic and clinical point of views. In this review, genetic alterations have been discussed and tabulated with respect to their molecular pathogenetic role and clinicopathologic implications, addressing the use of molecular biomarkers for the purpose of diagnosis and prognosis and predicting response to molecular therapy. Hereditary conditions that play a key role in determining predisposition to many types of endocrine tumors are also discussed.
Topics: Humans; Pathology, Molecular; Endocrine Gland Neoplasms; Mutation; Thyroid Gland; Adrenal Gland Neoplasms
PubMed: 38108848
DOI: 10.1007/s00428-023-03713-4