Chromosomal karyotype abnormalities are associated with increased risk of hematologic malignancies
Schick, Ursula Martine
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Chromosomal karyotype abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of risk of malignant transformation in individuals without apparent clinical presentation of a hematologic malignancy. To assess the association of large-scale chromosomal karyotype abnormalities and hematologic malignancy diagnosed subsequent to specimen collection, we applied the anomDetectBAF algorithm to Genome Wide Association Study data initially conducted using peripheral blood-derived DNA of 9,934 samples from the Women's Health Initiative (WHI). In this sample, large chromosomal karyotype abnormalities were observed at enrollment in 2.39% of the participants, conferring a 2.40-fold increased risk of hematologic malignancy during the median 12.62-year follow-up period (95% CI = 1.22-4.70, p-value= 0.011). Large putatively mosaic chromosomal karyotype anomalies were associated with a 3.11-fold increased risk of a hematologic malignancy in follow-up (95% CI=1.58-6.15, p-value=1.08e-3). This work suggests that large chromosomal karyotype abnormalities detected incidentally in GWAS data may provide clinically relevant risk information for subsequent hematologic malignancy diagnoses in elderly study participants.