Red flags warranting a genetic evaluation for leukemia patients1,17
| Red flag . | Features . |
|---|---|
| Personal history of congenital anomalies or comorbidities | Short stature; cutaneous features including café-au-lait spots, hypopigmentation, nail defects, premature graying; cardiac defects; skeletal defects (particularly radial anomalies); pulmonary fibrosis |
| Unusual response to chemotherapy or radiation treatment | |
| Prior diagnosis of squamous head, neck, or anogenital cancer | |
| Prior diagnosis of early-onset cancer (particularly those associated with Li-Fraumeni syndrome: breast, sarcoma, brain, adrenal, lung, and gastrointestinal) | |
| Certain somatic mutations | Fanconi anemia: gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q |
| Shwachman-Diamond syndrome: isochromoscome 7q | |
| GATA2 germ line: monosomy 7, ASXL1 | |
| CEBPA germ line: biallelic CEBPA, GATA2, WT1 | |
| RUNX1 germ line: biallelic RUNX1 | |
| TP53 germ line: hypodiploid ALL | |
| PAX5 germ line: PAX5 loss of heterozygosity and 9p deletion | |
| Family history of any of these features | One or more first-degree relatives with a blood cancer; multiple cases of AML on the same side of the family regardless of age; congenital anomalies (particularly those features listed in first row of this table); cytopenias; early-onset cancer; individuals with multiple primary cancers |
| Red flag . | Features . |
|---|---|
| Personal history of congenital anomalies or comorbidities | Short stature; cutaneous features including café-au-lait spots, hypopigmentation, nail defects, premature graying; cardiac defects; skeletal defects (particularly radial anomalies); pulmonary fibrosis |
| Unusual response to chemotherapy or radiation treatment | |
| Prior diagnosis of squamous head, neck, or anogenital cancer | |
| Prior diagnosis of early-onset cancer (particularly those associated with Li-Fraumeni syndrome: breast, sarcoma, brain, adrenal, lung, and gastrointestinal) | |
| Certain somatic mutations | Fanconi anemia: gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q |
| Shwachman-Diamond syndrome: isochromoscome 7q | |
| GATA2 germ line: monosomy 7, ASXL1 | |
| CEBPA germ line: biallelic CEBPA, GATA2, WT1 | |
| RUNX1 germ line: biallelic RUNX1 | |
| TP53 germ line: hypodiploid ALL | |
| PAX5 germ line: PAX5 loss of heterozygosity and 9p deletion | |
| Family history of any of these features | One or more first-degree relatives with a blood cancer; multiple cases of AML on the same side of the family regardless of age; congenital anomalies (particularly those features listed in first row of this table); cytopenias; early-onset cancer; individuals with multiple primary cancers |