NAACCR Item #1193: FOXO1 Gene Rearrangements
| Item # | Length | Source of Standard | Year Implemented | Version Implemented | Year Retired | Version Retired |
|---|---|---|---|---|---|---|
| 1193 | 1 | NAACCR/SEER | 2025 | 25 |
NAACCR XML:
Tumor.foxo1GeneRearrangements
Alternate Names
- FKHR-PAX3
- FKHR-PAX7
Description
FOXO1 gene rearrangement fusions are found to be positive in about 85% of alveolar rhabdomyosarcoma patients, while they are generally negative for embryonal rhabdomyosarcomas. The presence of these fusions indicates a poor prognosis. Identifying these fusions will also provide new therapeutic opportunities for the treatment of fusion positive rhabdomyosarcomas (FP-RMS).
Rationale
This is part of the National Childhood Cancer Registry (NCCR) project to collect more specific information on pediatric patients, specifically for Rhabdomyosarcoma. Registries part of the NCCR will start collection on specific pediatric data items with 2024+ diagnoses.
Notes
**Source documents:** molecular pathology report (may be addendum to original pathology report)
Codes
| 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 |
Code Notes
**Note 1: Effective years**
* This SSDI is effective for diagnosis years 2024+
* For cases diagnosed 2018-2023, this SSDI must be blank
**Note 2:** **Physician statement**
* Physician statement of FOXO1 gene rearrangements can be used to code this data item when no other information is available.
**Note 3: Applicable histologies**
* FOXO1 may be recorded all sarcomas; however, it is primary done for Alveolar Rhabdomyosarcomas
* Embryonal Rhabdomyosarcomas are usually negative, and therefore the test is usually not done.
* Code 9 if information is not available