Visual Taxonomy and Diagnostic Applications of Fluorescence In Situ Hybridization (FISH) Probes in Hematologic, Solid, and Genetic Disorders: A Content-Centric Review

Fluorescence In Situ Hybridization (FISH) is a widely used cytogenetic imaging technique that enables precise visualization of chromosomal abnormalities across a range of clinical contexts. This paper presents a comprehensive visual taxonomy of FISH probe types—deletion/duplication probes (Del/Dup), break-apart probes (BAP), dual-color fusion probes (DC/DF), and centromeric enumeration probes (CEP)—and contextualizes their diagnostic applications across hematologic malignancies, solid tumors, and genetic disorders. By systematically organizing representative FISH imaging patterns and linking them to disease-specific interpretations, this work offers a content-centric reference framework for clinicians, educators, and researchers. The structured atlas not only enhances understanding of probe logic and signal interpretation but also supports the development of digital content systems and clinical decision support tools that integrate cytogenetic imaging with diagnostic workflows.

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Publication Details

Journal
International Journal of Contents
Published
2026-03-31
DOI
https://doi.org/10.5392/ijoc.2026.22.1.126
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

Visual Taxonomy and Diagnostic Applications of Fluorescence In Situ Hybridization (FISH) Probes in Hematologic, Solid, and Genetic Disorders: A Content-Centric Review

李保, Simon James Fong, Jiahui Yu, Seon-Phil Jeong et al.
International Journal of Contents
Genomic variations and chromosomal abnormalities
article

Visual Taxonomy and Diagnostic Applications of Fluorescence In Situ Hybridization (FISH) Probes in Hematologic, Solid, and Genetic Disorders: A Content-Centric Review

李保, Simon James Fong, Jiahui Yu, Seon-Phil Jeong, Jinfeng Guo
article en

Abstract

Fluorescence In Situ Hybridization (FISH) is a widely used cytogenetic imaging technique that enables precise visualization of chromosomal abnormalities across a range of clinical contexts. This paper presents a comprehensive visual taxonomy of FISH probe types—deletion/duplication probes (Del/Dup), break-apart probes (BAP), dual-color fusion probes (DC/DF), and centromeric enumeration probes (CEP)—and contextualizes their diagnostic applications across hematologic malignancies, solid tumors, and genetic disorders. By systematically organizing representative FISH imaging patterns and linking them to disease-specific interpretations, this work offers a content-centric reference framework for clinicians, educators, and researchers. The structured atlas not only enhances understanding of probe logic and signal interpretation but also supports the development of digital content systems and clinical decision support tools that integrate cytogenetic imaging with diagnostic workflows.

International Journal of ContentsVol. 22(1)
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Genomic variations and chromosomal abnormalities
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