This page is part of the MII Implementation Guide Molecular Tumor Board (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Profiles

This page lists the FHIR profiles of the Molecular Tumor Board module (naming convention MII_PR_MTB_<Name>). The IG Publisher generates the technical detail pages automatically; the complete list is on the artifacts summary. The module's extensions are listed on the Extensions page.

Written during migration - review before release. The profiles are organized in four groups mirroring the module's information model:

• Behandlungsepisode (treatment episode) — diagnosis, prior therapies, specimens, consent and the MTB decision (therapy plan with therapy, study enrolment and further recommendations).
• NGS-Bericht (NGS report) — genomic study and analyses, variants (SNV, CNV, DNA/RNA fusion), molecular biomarkers and genetic implications.
• Molekular-Pathologie-Befund (molecular pathology report) — immunohistochemistry and in-situ hybridization.
• Follow-Up — implemented therapies, response findings and cost coverage.

Genetic implications

Genetic implications describe the clinical significance of genetic variants. In the context of the molecular tumor board two kinds of implication are distinguished:

Diagnostic implication: describes the diagnostic relevance of a variant, e.g. for classifying a tumor or confirming a diagnosis — DiagnostischeImplikation.

Therapeutic implication: describes the therapeutic relevance of a variant, e.g. as a predictive biomarker for the response to a targeted therapy — TherapeutischeImplikation.

For describing the functional consequences of a variant on protein structure and function, the profile Molekulare Konsequenz from the MolGen module is used.

The genetic implications are typically linked with the variant profiles: Einfache Variante, Copy Number Variant, DNA-Fusion, RNA-Fusion.

In-situ hybridization (ISH)

In-situ hybridization (ISH) is a molecular-biology method for detecting nucleic acids (DNA/RNA) directly in the tissue section. In oncology it is frequently used to detect gene amplifications, chromosomal translocations and fusion genes.

Profile	Description
MII_PR_MTB_Biomarker_InSituHybridization	Generic ISH profile for all ISH methods
MII_PR_MTB_INSITUHYBRIDIZATION_HER2	Specialized profile for HER2/ERBB2 FISH

Supported methods:

• FISH (fluorescence in situ hybridization) — the standard for HER2 amplification
• CISH (chromogenic in situ hybridization) — evaluable by light microscopy
• SISH (silver in situ hybridization) — silver-enhanced detection

Clinical applications:

• HER2/ERBB2 amplification in breast and gastric carcinoma
• ALK translocations in NSCLC
• ROS1 rearrangements
• BCR-ABL fusions
• MYC/BCL2/BCL6 in lymphomas