NAACCR Item #3856: Heritable Trait
| Item # | Length | Source of Standard | Year Implemented | Version Implemented | Year Retired | Version Retired |
|---|---|---|---|---|---|---|
| 3,856 | 1 | NAACCR | 2018 | 18 |
NAACCR XML: Tumor.heritableTrait
Heritable trait pertains to evidence that a tumor is associated with a heritable mutation. In retinoblastoma, the heritable trait is a germline mutation in the RB1 gene, which is associated with bilateral disease, family history of retinoblastoma, presence of concomitant CNS midline embryonic tumor (commonly in pineal region), or retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma). Children with any of these features may be assigned the H1 status without molecular testing. High quality molecular testing for RB1 mutation is required to determine the presence or absence of RB1 mutation for children without clinical features of a heritable mutation.
Heritable trait is required for prognostic stage grouping in AJCC 8th edition, Chapter 68 Retinoblastoma. It is a new data item for cases diagnosed 1/1/2018+.
Codes
| 0 | H0: Normal RB1 alleles No clinical evidence of mutation |
| 1 | H1: RB1 gene mutation OR Clinical evidence of mutation |
| 7 | Test ordered, results not in chart |
| 9 | HX: Not documented in medical record Test not done, or unknown if done Insufficient evidence of a constitutional RB1 gene mutation |
Each Site-Specific Data Item (SSDI) applies only to selected primary sites, histologies, and years of diagnosis. Depending on applicability and standard-setter requirements, SSDIs may be left blank.