HL7 FHIR Implementation Guide: Breast Cancer Data, Release 1 - US Realm (Draft for Comment 2)

Primary logical models defined as part of this Implementation Guide

Name Definition
BreastCancerDistantMetastasesClassification

The presence of distant metastases, based on criteria defined by the staging system being used.

BreastCancerGeneticAnalysisObservation

The status of genes known or suspected to play a role in breast cancer risk, for example, the tumor suppressor genes, BRCA1 and BRCA2.

BreastCancerHistologicGrade

The Elston Grade/Nottingham Score, representative of the aggressive potential of the tumor. Well differentiated cells (Grade 1) look similar to normal cells and are usually slow growing, while poorly differentiated cells (Grade 3) look very different than normal and are fast-growing.

BreastCancerPresenceStatement

Diagnosis of cancer originating in the tissues of the breast, and potentially spread to other organs of the body.

BreastCancerPrimaryTumorClassification

The size and extent of the primary tumor, based on criteria defined by the staging system being used.

BreastCancerRegionalNodesClassification

The presence of metastases in regional lymph nodes, based on criteria defined by the staging system being used.

BreastCancerStage

The stage of a breast cancer. Different staging systems use different staging groups, so there are currently no terminology bindings associated with this class.

BreastClinicalLymphNodeInvolvement

Clinical assessment of lymph nodes for presence of cancer cells in staging the N category in cancers.

BreastLymphNodeBodySite

A body site specific to the lymph node structure.

BreastPathologicalLymphNodeInvolvement

Clinical assessment of lymph nodes for presence of cancer cells in staging the N category in cancers.

BreastSite

A body site specific to the breast structure.

BreastSpecimen

Specimen resulting from biopsy or excision of breast and surrounding tissue.

BreastTumor

An abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm. (source: NCI)

DCISNuclearGrade

An evaluation of the size and shape of the nucleus in tumor cells and the percentage of tumor cells that are in the process of dividing or growing. Cancers with low nuclear grade grow and spread less quickly than cancers with high nuclear grade. In breast cancer, nuclear grade is typically evaluated for ductal carcinoma in situ (DCIS) only. There is currently no concept code for DCIS Nuclear Grade in LOINC, SNOMED, or NCI Metathesaurus.

EstrogenReceptorStatus

Estrogen receptor alpha is the predominant estrogen receptor expressed in breast tissue and is overexpressed in around 50% of breast carcinomas. ER status (positive=present or overexpressed; negative=absent) is a factor in determining prognosis and treatment options. The current approach is that positive/negative designation is a value, even though that value is (in fact) an interpretation of evidence (NuclearPositivity and AverageStainingIntensity).

HER2ReceptorStatus

HER2 receptor status. HER2 is a member of the human epidermal growth factor receptor family of proteins and is encoded by the ERBB2 oncogene. HER2 is overexpressed in 20-30% of breast tumors, and is associated with an aggressive clinical course and poor prognosis. HER2 status (positive=present or overexpressed; negative=absent) is a factor in determining prognosis and treatment options.

HER2byFISH

HER2 receptor status as determined by single-probe or dual-probe Fluorescence In Situ Hybridization (FISH).

HER2byIHC

HER2 presence in Breast cancer specimen by Immunohistochemistry (IHC).

Ki-67NuclearAntigen

Ki-67 is a protein phosphatase whose expression is strongly associated with cell proliferation and encoded by the MKI67 gene. The Ki67 labeling index is the fraction of Ki-67-positive cells to total cells in a tumor specimen and may be useful for determining prognosis with respect to survival and disease recurrence. The Ki-67 antigen is measured numerically as a percentage, and as an ordinal. The more positive cells there are, the more quickly they are dividing and forming new cells. ReferenceRange: Low <10, Intermediate 10-20, >20 High.

MammaprintRecurrenceScore

Breast cancer genomic signature assay for 10-year risk of distant recurrence score calculated by Mammaprint. In the United States, MammaPrint can only be used on cancers that are stage I or stage II, invasive, smaller than 5 centimeters, and estrogen-receptor-positive or -negative. Scores range from -1.0 to +1.0, with scores less than 0 indicating high risk, and scores greater than 0 indicating low risk. The is currently no LOINC code for Mammaprint test.

OncotypeDxDCISRecurrenceScore

The Oncotype DX test for DCIS (Ductal Carcinoma in Situ) breast cancer. Risk scores range from 0 to 100 with the following interpretations: 0-38: Low-Risk, 39-54: Intermediate-Risk, 55+: High-Risk. No LOINC code currently exists for this test. We are seeking feedback on the value of separating OncotypeDx scores for DCIS and invasive breast carcinomas. Does it make more sense to report the OncotypeDx as a single score, regardless of the type of cancer?

OncotypeDxInvasiveRecurrenceScore

The Oncotype DX test for invasive breast cancer examines the activity of 21 genes in a patient’s breast tumor tissue to provide personalized information for tailoring treatment based on the biology of their individual disease. The value from 0 to 100 indicates the estimated risk of recurrence, with the highest risk indicated by a score greater than 31. No LOINC code currently exists for this test. We are seeking feedback on the value of separating OncotypeDx scores for DCIS and invasive breast carcinomas. Does it make more sense to report the OncotypeDx as a single score, regardless of the type of cancer?

ProgesteroneReceptorStatus

Progesterone receptor status is a factor in determining prognosis and treatment options. The value is the percentage of cells that test (stain) positive for the presence of a receptor. The interpretation of positive or negative (found in the interpretation property) is based on the staining percentage, and may take into account the staining intensity. Based on discussion with Cancer Interoperability Group subject matter experts, there was insufficient rationale to include the following components in the data model: StainingControl, PrimaryAntibody, Allred Score (both total and component scores). We are seeking feedback on whether or not those components should be included in this model.

ProsignaRecurrenceScore

Breast cancer genomic signature assay for 10-year risk of distant recurrence score calculated by Prosigna. The Prosigna Score is reported on a 0-100 scale (referred to as ROR Score or Risk of Recurrence Score in the literature), which is correlated with the probability of distant recurrence at ten years for post-menopausal women with hormone receptor positive, early stage breast cancer.