Detection of chromosome instability by interphase FISH in mouse and human tissues

Abstract

Summary Chromosomal instability (CIN), a type of genomic instability, favors changes in chromosome number and structure and it is associated with the progression and initiation of multiple diseases, including cancer. Therefore, CIN identification and analysis represents a useful tool for cancer diagnosis and treatment. Here, we report an optimized molecular cytogenetic protocol to detect CIN in formalin-fixed, paraffin-embedded mouse and human tissues, using fluorescent in situ hybridization to visualize and quantify chromosomal alterations such as amplifications, deletions, and translocations. For complete information on the generation and use of this protocol, please refer to Brandt et al. (2018) .

The 3D Genome: From Structure to Function

“…We need to be sure that nuclear compartments are reserved during FISH. FISH probes are either synthesized oligos or generated through nick translation from a large DNA, resulting in overlapping fragments of 100–500 bp [ 100 , 101 , 102 ]. The probe may also cover the genomic sequence, from 30 kb to the entire chromosome [ 103 ].…”

Simultaneous diagnosis of tuberculous pleurisy and malignant pleural effusion using metagenomic next-generation sequencing (mNGS)

“…The identification of malignant PE (MPE) now mainly relies on pathological and cytologic examinations but with limited diagnostic sensitivity [ 9 ]. Genome instability considered an important genetic marker of malignant neoplasms has been studied widely based on various approaches, such as whole-genome sequencing and fluorescent in situ hybridization [ 10 – 12 ]. As a large number of human reads sequenced by mNGS are usually deleted without further interpretation, several studies explored the possibility of repurposing mNGS-derived human reads for copy number variant (CNV) analysis and cancer identification [ 13 – 15 ].…”