Invited review—next-generation sequencing: a modern tool in cytopathology

Lung cancer and molecular testing in small biopsies versus cytology: The Logics of Worlds

“…10 Despite its small size, a cytopathology specimen can routinely afford a correct, full-fidelity diagnosis and provide ample material for necessary ancillary testing in accordance with the standard of care. [11][12][13][14][15][16][17] As a diagnostic modality, a cytopathological specimen demonstrates equivalency to a surgical specimen specifically because of the veridical richness of cytomorphology and its relation to molecular pathology.…”

“…As such, formalin-fixed, paraffin-embedded cell blocks are the most widely used cytological specimens for molecular testing because of validation similarity with traditional histological samples. 11,27 However, the updated molecular testing guidelines from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology in 2018 concur that any cytological sample, characterized by adequate and well-preserved material, can be used for molecular testing, including smear slides used to judge adequacy during ROSE. These guidelines explicitly include cytological specimens among surgical specimens for the testing of routinely treatable mutations when patients are diagnosed with lung adenocarcinoma and/or not otherwise specified.…”

Molecular predictive testing in precision oncology: The Italian experience

“…The primary differences occur among countries adopting private, reimbursement-based systems, in which insurance coverage can ensure the repayment of comprehensive molecular testing and those with the universal health care (UHC) network. [3][4][5] In the latter setting, the resources are finite, and the main efforts are spent to provide at least the molecular information needed to guide standard-of-care clinical management. 3 Moreover, even in countries that have a UHC system, the model for molecular testing may differ substantially; in fact, while some countries have a centralized system based on a limited number of high-volume testing molecular centers, in other nations a decentralized model Molecular Pathology in Italy/Vigliar et al has been adopted, with a larger number of local laboratories performing in-house molecular testing.…”

Analysis by Next-Generation Sequencing Panel Covered 60 Genes and 17 Microsatellite Foci in Endometrial Screening Liquid-Based Cytology Specimens A Comparative Study to Tissue Specimens

“…Cytology specimens including conventional smear, cytospin, liquid-based cytology (LBC), and cell block are valuable sources of routine molecular diagnostics [7]. In fact, extensive studies have been reported that variety of cytology materials, containing LBC specimens, are available for molecular testing by next-generation sequencing (NSG), especially in non-small cell lung cancer [7][8][9][10][11][12].…”

“…Moreover, genome-wide association studies have identified new susceptibility loci for endometrial cancer in the human genome, providing candidate genes for further studies that aim to unravel the mechanisms driving 4 carcinogenesis, which could offer new opportunities for early screening and detection or identification of therapeutic targets [3]. Unlike squamous cell carcinoma of the uterine cervix with pathogenesis closely related to that of human papilloma virus infection [4], endometrial carcinogenesis is linked to common cancer gene mutations and genome instability [5,6].Cytology specimens including conventional smear, cytospin, liquid-based cytology (LBC), and cell block are valuable sources of routine molecular diagnostics [7]. In fact, extensive studies have been reported that variety of cytology materials, containing LBC specimens, are available for molecular testing by next-generation sequencing (NSG), especially in non-small cell lung cancer [7][8][9][10][11][12].Meanwhile, the endometrial cytology is not only safe and easy clinical procedure but also comparable to suction endometrial biopsy for detecting atypical endometrial hyperplasia and cancers [13][14][15][16].Since 1987 in Japan, a cytologic examination for endometrial cancer screening is established by a national health insurance low.…”