| Autor: |
Shih, Andrew J., Jun, Tomi, Skol, Andrew D., Bao, Riyue, Huang, Lei, Vora, Sapana, McNerney, Megan E., Hungate, Eric A., Le Beau, Michelle M., Larson, Richard A., Elliott, Aaron, Lu, Hsiao‐Mei, Huether, Robert, Hernandez, Felicia, Stölzel, Friedrich, Allan, James M., Onel, Kenan |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Feb2023, Vol. 200 Issue 4, p489-493, 5p |
| Abstrakt: |
Summary: Some patients with therapy‐related myeloid neoplasms (t‐MN) may have unsuspected inherited cancer predisposition syndrome (CPS). We propose a set of clinical criteria to identify t‐MN patients with high risk of CPS (HR‐CPS). Among 225 t‐MN patients with an antecedent non‐myeloid malignancy, our clinical criteria identified 52 (23%) HR‐CPS patients. Germline whole‐exome sequencing identified pathogenic or likely pathogenic variants in 10 of 27 HR‐CPS patients compared to 0 of 9 low‐risk CPS patients (37% vs. 0%, p = 0.04). These simple clinical criteria identify t‐MN patients most likely to benefit from genetic testing for inherited CPS. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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