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ISCN and Chromoanagenesis.

Martine Doco-Fenzy1, Jean-Michel Dupont2, Caroline Schluth-Bolard3

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|August 30, 2025
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Summary

Reporting complex chromosome rearrangements like chromothripsis, chromoanasynthesis, and chromoplexy, collectively termed chromoanagenesis, is challenging. This chapter simplifies their description using the International System for Human Cytogenomic Nomenclature (ISCN).

Keywords:
ChromoanasynthesisChromoplexyChromosome pulverizationChromothripsisComplex chromosomal rearrangement (CCR)ISCN

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Area of Science:

  • Cytogenetics
  • Genomics
  • Molecular Biology

Background:

  • Chromoanagenesis, encompassing chromothripsis, chromoanasynthesis, and chromoplexy, represents recent advancements in understanding complex chromosomal rearrangements.
  • The cytogenetic nomenclature for these complex rearrangements is often intricate and challenging to apply consistently.
  • The abbreviation for chromothripsis, the initial type of chromoanagenesis described, was only incorporated into the International System for Human Cytogenomic Nomenclature (ISCN) in 2013.

Purpose of the Study:

  • To provide a clear and concise summary of how to report chromoanagenesis phenomena within the ISCN nomenclature.
  • To standardize the transcription of complex chromosome rearrangements such as chromothripsis, chromoanasynthesis, and chromoplexy.
  • To aid researchers and clinicians in accurately documenting these complex genetic events.

Main Methods:

  • Review and synthesis of existing literature on chromoanagenesis and ISCN nomenclature.
  • Analysis of reporting conventions for complex chromosome rearrangements.
  • Compilation of guidelines for ISCN transcription of chromoanagenesis events.

Main Results:

  • A structured approach to reporting chromoanagenesis (chromothripsis, chromoanasynthesis, chromoplexy) in ISCN.
  • Clarification of nomenclature rules for complex chromosomal rearrangements.
  • Facilitation of consistent and accurate documentation of these genetic phenomena.

Conclusions:

  • Standardized reporting of chromoanagenesis using ISCN nomenclature is crucial for clear communication in cytogenetics.
  • This summary simplifies the complex task of transcribing these rearrangements.
  • Accurate nomenclature aids in the study and understanding of chromoanagenesis and its implications.