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Critical Reviews in Oncogenesis 2017Immunohistochemistry (IHC) is an indispensable tool for molecular pathological diagnosis. It has been applied in the differential diagnosis of benign and malignant... (Review)
Review
Immunohistochemistry (IHC) is an indispensable tool for molecular pathological diagnosis. It has been applied in the differential diagnosis of benign and malignant tumors, the determination of tumor origin, cell differentiation, and the detection of microorganisms. By enabling the detection of proteins, IHC offers a platform for the assessment of genetic information from tumor genes and molecular pathological changes. Compared with other molecular pathology detection tools, IHC is cheaper, less time-consuming, and less labor-intensive and can be applied in routine pathological diagnosis efficiently. This review summarizes the IHC biomarkers that can be used to reflect molecular pathology or even to replace molecular pathology, and it highlights the shortcomings and precautions to be observed during their applications.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Humans; Immunohistochemistry; Neoplasms; Pathology, Molecular
PubMed: 29604924
DOI: 10.1615/CritRevOncog.2017020548 -
Histopathology Dec 2014Five year survival rates for lung cancer patients are poor; however the development of new therapeutic options, which benefit subsets of the population, offer hope of... (Review)
Review
Five year survival rates for lung cancer patients are poor; however the development of new therapeutic options, which benefit subsets of the population, offer hope of improvement. These novel therapies frequently rely upon the analysis of biomarkers in pathology samples; in lung cancer patients, testing is now routinely carried out to identify small mutations and chromosomal rearrangements in order to predict response to treatment. The recent increase in biomarker analyses in pathology samples has lead to the development of a new specialty, molecular pathology. The use of molecular pathology assays in clinical samples is largely under the control of the histopathologist; who is likely to be asked, as a minimum, to select tissue sections for molecular analysis and mark areas of H&E stained slides for macro or microdissection. Many histopathologists will also be involved in the sourcing and implementation of new assays. This review aims to provide a guide to some of the most commonly used molecular pathology methods - their advantages and their limitations.
Topics: Humans; Lung Neoplasms; Pathology, Molecular
PubMed: 25130601
DOI: 10.1111/his.12505 -
Diagnostic Cytopathology Jan 2023In the era of personalized medicine, molecular testing plays a critical role in patient care. The rapid advance of molecular techniques, especially next-generation...
In the era of personalized medicine, molecular testing plays a critical role in patient care. The rapid advance of molecular techniques, especially next-generation sequencing, makes molecular diagnosis feasible in daily practice. Molecular testing can be used as a valuable ancillary test to increase diagnostic sensitivity and specificity, especially in small biopsy or cytology samples. In addition, molecular testing plays an important role in selecting patients for appropriate treatment by detecting therapeutic and predictive biomarkers in tissue or cytology samples. Molecular studies can be applied in all cytology samples, sometimes with better results than histology. As molecular testing has become essential for patient care and is often requested to be performed in cytology samples, it is critical for cytopathologists to understand the basics of molecular diagnostic methods, indications for molecular testing, and how to best utilize different cytologic samples for this purpose. In this special issue, experts in various areas of cytopathology and molecular pathology review the literature and discuss the basics of molecular techniques and the application of molecular testing in various types of cytology samples. It is our hope that after reading the articles in this special issue, the readers can know better about the possibilities of molecular cytology, a very exciting field of pathology.
Topics: Humans; Pathology, Molecular; Molecular Diagnostic Techniques
PubMed: 36367273
DOI: 10.1002/dc.25071 -
Advances in Anatomic Pathology May 2018Recent advances in molecular pathology have reshaped the practice of brain tumor diagnostics. The classification of gliomas has been restructured with the discovery of... (Review)
Review
Recent advances in molecular pathology have reshaped the practice of brain tumor diagnostics. The classification of gliomas has been restructured with the discovery of isocitrate dehydrogenase (IDH) 1/2 mutations in the vast majority of lower grade infiltrating gliomas and secondary glioblastomas (GBM), with IDH-mutant astrocytomas further characterized by TP53 and ATRX mutations. Whole-arm 1p/19q codeletion in conjunction with IDH mutations now define oligodendrogliomas, which are also enriched for CIC, FUBP1, PI3K, NOTCH1, and TERT-p mutations. IDH-wild-type (wt) infiltrating astrocytomas are mostly primary GBMs and are characterized by EGFR, PTEN, TP53, NF1, RB1, PDGFRA, and CDKN2A/B alterations, TERT-p mutations, and characteristic copy number alterations including gains of chromosome 7 and losses of 10. Other clinically and genetically distinct infiltrating astrocytomas include the aggressive H3K27M-mutant midline gliomas, and smaller subsets that occur in the setting of NF1 or have BRAF V600E mutations. Low-grade pediatric gliomas are both genetically and biologically distinct from their adult counterparts and often harbor a single driver event often involving BRAF, FGFR1, or MYB/MYBL1 genes. Large scale genomic and epigenomic analyses have identified distinct subgroups of ependymomas tightly linked to tumor location and clinical behavior. The diagnosis of embryonal neoplasms also integrates molecular testing: (I) 4 molecularly defined, biologically distinct subtypes of medulloblastomas are now recognized; (II) 3 histologic entities have now been reclassified under a diagnosis of "embryonal tumor with multilayered rosettes (ETMR), C19MC-altered"; and (III) atypical teratoid/rhabdoid tumors (AT/RT) now require SMARCB1 (INI1) or SMARCA4 (BRG1) alterations for their diagnosis. We discuss the practical use of contemporary biomarkers for an integrative diagnosis of central nervous system neoplasia.
Topics: Biomarkers, Tumor; Brain Neoplasms; Humans; Pathology, Molecular
PubMed: 29521646
DOI: 10.1097/PAP.0000000000000186 -
Virchows Archiv : An International... Feb 2021
Review
Topics: Humans; Neoplasms; Pathology, Molecular
PubMed: 32761392
DOI: 10.1007/s00428-020-02898-2 -
International Journal of Surgical... Jun 2010
Review
Topics: Humans; Pathology, Molecular; Prognosis; Thyroid Neoplasms
PubMed: 20484293
DOI: 10.1177/1066896910370886 -
Molecular Oncology Jun 2014Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer... (Review)
Review
Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer treatments that specifically target aberrant proteins present in tumor cells, treatment decisions are increasingly based on the molecular features of the tumor. Not only the number of patients eligible for targeted precision medicine, but also the number of molecular targets per patient and tumor type is rising. Diagnostic molecular pathology, the discipline that determines the molecular aberrations present in tumors for diagnostic, prognostic or predictive purposes, is faced with true challenges. The laboratories have to meet the need of comprehensive molecular testing using only limited amount of tumor tissue, mostly fixed in formalin and embedded in paraffin (FFPE), in short turnaround time. Choices must be made for analytical methods that provide accurate, reliable and cost-effective results. Validation of the test procedures and results is essential. In addition, participation and good performance in internal (IQA) and external quality assurance (EQA) schemes is mandatory. In this review, we critically evaluate the validation procedure for comprehensive molecular tests as well as the organization of quality assurance and assessment of competence of diagnostic molecular pathology laboratories within Europe.
Topics: Europe; High-Throughput Screening Assays; Humans; Laboratories; Molecular Diagnostic Techniques; Neoplasms; Pathology, Molecular; Quality Control; Reproducibility of Results
PubMed: 24704265
DOI: 10.1016/j.molonc.2014.03.004 -
Current Drug Targets Nov 2012
Topics: Animals; Antineoplastic Agents; Biomarkers, Tumor; Diffusion of Innovation; Forecasting; Genomics; Humans; Metabolomics; Molecular Targeted Therapy; Neoplasms; Pathology, Molecular; Precision Medicine; Predictive Value of Tests; Proteomics; Translational Research, Biomedical
PubMed: 22974390
DOI: 10.2174/138945012803530099 -
Der Chirurg; Zeitschrift Fur Alle... Nov 2021
Topics: COVID-19; Humans; Pathology, Molecular; Surgical Oncology
PubMed: 34686901
DOI: 10.1007/s00104-021-01515-5 -
Diagnostic Molecular Pathology : the... Dec 2013
Topics: Humans; Pathology, Molecular; Periodicals as Topic
PubMed: 24247232
DOI: 10.1097/PDM.0000000000000040