FOXO1 Gene Rearrangements
FKHR-PAX3 or FKHR-PAX7
Notes
**Note 1:** This SSDI is effective for diagnosis years 2024+.
* For cases diagnosed 2018-2023, leave this SSDI blank
**Note 2:** FOXO1 gene rearrangement fusions are found to be positive in about 85% of alveolar rhabdomyosarcoma patients, while are generally negative for embryonal rhabdomyosarcomas. The presence of these fusions indicates a poor prognosis. Identify these fusions will also provide new therapeutic opportunities for the treatment of fusion positive rhabdomyosarcomas (FP-RMS).
* Primary sources of information: molecular pathology report (may be addendum to original pathology report), CAP protocol
**Note 3:** Physician statement of FOXO1 gene rearrangements can be used to code this data item.
**Note 4:** This test is almost always done for Alveolar Rhabdomyosarcomas. Embryonal Rhabdomyosarcomas are usually negative, and therefore the test is usually not done.
Metadata
SSDI
| Code |
Description |
| 0 |
No gene rearrangements (fusions) identified |
| 1 |
FOXO1-PAX3 gene rearrangement (fusion) present |
| 2 |
FOXO1-PAX7 gene rearrangement (fusion) present |
| 3 |
FOXO1-PAX3 and FOXO1-PAX7 gene rearrangements (fusions) present |
| 4 |
FOXO1 gene rearrangement present, fusion partner not known |
| 7 |
Test ordered, results not in chart |
| 8 |
Not applicable: Information not collected for this case
(If this information is required by your standard setter, use of code 8 may result in an edit error.) |
| 9 |
Not documented in medical record
Cannot be determined by pathologist
FOXO1 gene rearrangement not assessed or unknown if assessed |
| <BLANK> |
N/A - Diagnosis year is prior to 2024 |
