P8.grimwade2010

Grimwade 2010 counting

전체 counting policy 메인으로 돌아가기
Label

Grimwade 2010 AML counting

Basis

Grimwade et al. 2010 AML complex-karyotype framing

Scope

Whole sample

Clone handling

Adds independent abnormalities across the sample; recurrent identical abnormalities are represented once.

Weighting

Balanced translocations/inversions count as one related abnormality; repeated numerical gains/losses count by copy count; gained derived chromosomes and unbalanced derivative/translocation events can contribute more than one count.

When to use

Use for AML complex-karyotype interpretation in a Grimwade-style framework.

Summary

Counts independent abnormalities across the sample using Grimwade-style related-event, multiplicity, derived-gain, and unbalanced-translocation rules.

Algorithm

  1. Build a sample-wide set of independent top-level acquired abnormalities.
  2. Count top-level trisomy, monosomy, and balanced structural events as one unless explicit multiplicity states repeated copies.
  3. Count explicit repeated gains/losses separately, even when the same chromosome is repeated.
  4. Count gain of a derived or structurally abnormal chromosome as two abnormalities.
  5. Expand unbalanced derivative/translocation events by disrupted chromosome count.
  6. Retain explicit abnormality multiplicity when the notation states multiple copies.

Counted units

  • Numerical gain/loss events count as one each.
  • Balanced t and inv events count as one each because the related events leading to them are counted together.
  • Unbalanced der/t events can contribute more than one when multiple chromosomes are disrupted.
  • Gain of a derived or structurally abnormal chromosome contributes two abnormalities.
  • Explicit multiplicity such as add(14)(q32)x2 or +4mar contributes by copy count.

Exclusions and collapse rules

  • Repeated identical abnormalities across clones are represented once.
  • Parallel clone lineages contribute their independent abnormalities to the Grimwade total.
  • Constitutional polymorphism-style events are excluded when marked as constitutional.

Examples

  • der(7)t(1;7) can contribute two disrupted-chromosome abnormalities.
  • 46,XX,add(14)(q32)x2 contributes two structural abnormalities.
  • +8x2 contributes two numerical gain abnormalities, even though both gains involve chromosome 8.
  • +4mar contributes 4 marker chromosome abnormalities.

Notes

  • This policy is intended for AML complex-karyotype framing in a Grimwade-style approach.
  • CytoMut exposes the per-event weight basis so expanded derivative counts can be audited.
  • Footnote: the original publication does not explicitly define clone handling; CytoMut reports this policy as a sample-wide aggregate of independent abnormalities.

Source Documents

  • docs/counting_abnormalities/references/2010_grimwade_blood.pdf
  • paper/abnormality_counting_methods_and_policies.md