P6.haase2019

Haase 2019 counting

전체 counting policy 메인으로 돌아가기
Label

Haase 2019 single-clone MDS counting

Basis

Haase et al. 2019 / IPSS-R single-clone complexity framing

Scope

Highest-abnormality clone lineage

Clone handling

Uses one clone lineage rather than whole-sample union counting.

Weighting

Top-level abnormalities count one each by Chun-style convention, except unbalanced translocations count as two abnormalities.

When to use

Use when the question is whether one MDS clone reaches 3, 4, or 5 abnormalities.

Summary

Applies Chun-style top-level counting in the single clone lineage with the highest total, with unbalanced translocations counted as two abnormalities.

Algorithm

  1. Count terminal clone lineages using Chun-style top-level abnormality counting.
  2. Count unbalanced translocations as two abnormalities and absorb accompanying whole-chromosome gains/losses that belong to the same unbalanced-translocation pattern.
  3. Select the terminal clone lineage with the highest resulting Haase count.
  4. Use the count for MDS/IPSS-R-style single-clone complexity assessment.

Counted units

  • Top-level numerical abnormalities count as one each.
  • Top-level structural abnormalities count as one each unless they are unbalanced translocations.
  • Unbalanced translocations such as der(1;7) contribute two abnormalities.
  • Tetraploidy/polyploidy contributes one when treated as an acquired clonal abnormality.
  • Explicit marker multiplicity is not expanded beyond the top-level Chun-style item unless represented as separate top-level items.

Exclusions and collapse rules

  • Independent parallel clone lineages are not summed together.
  • General ISCN Table 7 derivative expansion is not applied; the special two-count rule is limited to unbalanced translocations.
  • Constitutional polymorphism-style events are excluded when marked as constitutional.

Examples

  • A terminal clone lineage with -7, +8, and del(5q) has three top-level abnormalities.
  • 45,XY,der(1;7)(q10;p10) contributes two abnormalities under the unbalanced-translocation rule.
  • 46,XY,+1,der(1;7)(q10;p10) still contributes two abnormalities because +1 belongs to the same unbalanced-translocation pattern.
  • If another clone has fewer abnormalities, it does not determine the Haase count.

Notes

  • This policy is used by CytoMut's MDS IPSS-R cytogenetic helper as the counting basis.
  • It focuses on whether one clone reaches the MDS complexity thresholds.
  • Footnote: the original publication does not explicitly define all counting edge cases; CytoMut follows this documented Haase/IPSS-R counting policy.

Source Documents

  • docs/counting_abnormalities/references/2019_haase_leukemia.pdf
  • paper/abnormality_counting_methods_and_policies.md