Cytogenetic and genome research · 2026
Quality Gaps in Cytogenetic Reporting: A Single-Center Retrospective Audit of 225 Bone Marrow Karyotype Reports in Hematologic Malignancies.
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Alsubaie Lamia, Alsobaie Sarah, Alhammad Nawaf, Aldhubayi Luluh, Al-Sheikh Yazeed
Аннотация
INTRODUCTION: Cytogenetic findings are essential for diagnosis and prognostic risk stratification in hematologic malignancies. However, the extent to which routine karyotype reports incorporate clinically relevant interpretation remains variable. This study evaluated the completeness, accuracy, and clinical integration of cytogenetic reporting.
METHODS: We retrospectively reviewed 225 consecutive bone marrow karyotype reports issued between October 2020 and July 2024 from a tertiary-care cytogenetics laboratory. Reports were assessed for interpretive commentary, disease-specific risk stratification, actionable testing recommendations, genetic counseling referral, turnaround time (TAT), and ISCN accuracy. Risk stratification analyses were restricted to cases eligible for established disease-specific frameworks (107/225; 47.6%).
RESULTS: ISCN errors were identified in 72/225 reports (32.0%), most commonly involving bracketing and subclone notation. Explicit risk-tier documentation was present in only 3/225 reports (1.33%). Among AML cases with documented risk assessment, misclassification occurred in 3/15 cases (20.0%), whereas no misclassification was observed in MDS. Actionable testing recommendations were documented in 5/225 reports (2.22%), and 4/225 reports (1.78%) contained ISCN results without interpretive narrative. Genetic counseling recommendations were absent from all reports, including four cases meeting predefined criteria. Median TAT was 30.5 days (IQR 23-44; 90th percentile 72.3 days), exceeding recommended benchmarks.
CONCLUSIONS: Cytogenetic reporting gaps primarily reflect limited clinical interpretation rather than technical reporting deficiencies. Standardized diagnosis-aware templates and quality monitoring may improve reporting completeness, consistency, and clinical utility.
METHODS: We retrospectively reviewed 225 consecutive bone marrow karyotype reports issued between October 2020 and July 2024 from a tertiary-care cytogenetics laboratory. Reports were assessed for interpretive commentary, disease-specific risk stratification, actionable testing recommendations, genetic counseling referral, turnaround time (TAT), and ISCN accuracy. Risk stratification analyses were restricted to cases eligible for established disease-specific frameworks (107/225; 47.6%).
RESULTS: ISCN errors were identified in 72/225 reports (32.0%), most commonly involving bracketing and subclone notation. Explicit risk-tier documentation was present in only 3/225 reports (1.33%). Among AML cases with documented risk assessment, misclassification occurred in 3/15 cases (20.0%), whereas no misclassification was observed in MDS. Actionable testing recommendations were documented in 5/225 reports (2.22%), and 4/225 reports (1.78%) contained ISCN results without interpretive narrative. Genetic counseling recommendations were absent from all reports, including four cases meeting predefined criteria. Median TAT was 30.5 days (IQR 23-44; 90th percentile 72.3 days), exceeding recommended benchmarks.
CONCLUSIONS: Cytogenetic reporting gaps primarily reflect limited clinical interpretation rather than technical reporting deficiencies. Standardized diagnosis-aware templates and quality monitoring may improve reporting completeness, consistency, and clinical utility.