The current and future applications of in situ hybridization technologies in anatomical pathology

• Published in: Expert review of molecular diagnostics Vol. 22; no. 1; p. 5
• Main Authors: Leung, Hoi Yi, Yeung, Martin Ho Yin, Leung, Wai Tung, Wong, King Hin, Tang, Wai Yan, Cho, William Chi Shing, Wong, Heong Ting, Tsang, Hin Fung, Wong, Yin Kwan Evelyn, Pei, Xiao Meng, Cheng, Hennie Yuk Lin, Chan, Amanda Kit Ching, Wong, Sze Chuen Cesar
• Format: Journal Article
• Language: English
• Published: England 02.01.2022
• Subjects: DNA; Humans; In Situ Hybridization; Polymerase Chain Reaction; RNA; in situ PCR; Cancer diagnosis; in situ hybridization; molecular diagnosis
• ISSN: 1744-8352
• DOI: 10.1080/14737159.2022.2007076

hybridization (ISH) plays an important role in the field of molecular diagnostics, especially in an anatomical pathology laboratory. ISH is a technique that can detect the targeted DNA or RNA sequences in tissue sections from frozen or fixed materials with labeled DNA or RNA probes. Radioactive and non-radioactive probes are the two major probes that can be used to label the targeted nucleic acids. Two decades after the Human Genome Project, ISH has not only simply been applied to identify the chromosomal location of a human gene but has also been extensively applied to gene expressions studies and utilized for clinical diagnosis, especially for the determination of biomarkers for breast and ovarian cancers - human epidermal growth factor receptor 2. Duchenne muscular dystrophy, Cri-du-chat syndrome, Angelman syndrome, PraderWilli syndrome, cystic fibrosis, and trisomy are diseases that can also be detected by ISH. In this review, the basic principles, historical development, advantages and disadvantages, enhancement in reporting molecules and probes, advancement in detection methods, PCR, clinical applications and novel applications of ISH will be discussed. With the advancement in ISH technologies and appropriate training, diagnosis can be improved in Anatomical Pathology.