Version 25
Data Item #3856: Heritable Trait

Length: 1
Source of Standard: NAACCR
Section Name: Stage/Prognostic Factors
Year Implemented: 2018
Version Implemented: 18
Record Types: A, M, C, I

XML NAACCR ID: heritableTrait

Parent XML Element: Tumor

Required Status:

NPCR Collect: . - No recommendations
CoC Collect: RS - Required, site specific
SEER Collect: RS - Required, site specific
CCCR Collect: RS* - Required, site specific; when available

Description:

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.

Clarification:

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+.

Item Data Type:

digits

Allowable Values

0, 1, 7, 9

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

Code Notes:

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.

Version 25 Data Item #3856: Heritable Trait