What question did this study set out to answer?

The aim is to provide a structured visual taxonomy of FISH probes and their diagnostic relevance across various disorders.

April 17, 2026Open Access

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

Key Points

The aim is to provide a structured visual taxonomy of FISH probes and their diagnostic relevance across various disorders.
Developed a comprehensive visual taxonomy of different FISH probe types.
Systematically organized FISH imaging patterns linked to specific diseases.
Created a reference framework for clinicians, educators, and researchers.
Enhanced understanding of probe logic and signal interpretation.
Provided a structured atlas to facilitate clinical decision-making.
Supported the integration of cytogenetic imaging into diagnostic workflows.

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.

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