English
Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-fgfr2-fusion
Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0
| Subject | Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, )) |
| Performer | Practitioner Dr. Daniel Schmidt(official) |
Report Details
| Code | Value | Flags | Relevant Time |
| Diagnostic Implication | Final | 2022-11-30 | |
| Genetic variant assessment | Present | Final | 2022-11-30 |
| Therapeutic Implication | Final | 2022-11-30 |
Nachweis FGFR2-Fusion. Empfehlung: Hochselektive FGFR-Inhibitor-Therapie.
English
Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-fgfr2-fusion
Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1
identifier: https://www.charite.de/fhir/auftragsnummern/PRK4QE59A
status: Active
intent: Order
category: Laboratory procedure (procedure)
code: Therapierelevante genetische Veränderungen bei Intrahepatischem Gallengangskarzinom
subject: Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))
authoredOn: 2022-11-30
requester: Practitioner Dr. Linda Rubens(official)
reasonCode: Intrahepatic bile duct carcinoma (disorder)
English
Generated Narrative: Observation mii-exa-molgen-variante-fgfr2-fusion
Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0
basedOn: ServiceRequest Molecular genetic test (procedure)
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))
effective: 2022-11-30
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: FGFR2
component
code: DNA change type
value: gene_fusion
component
code: Gene fusion transcript details in Blood or Tissue by Molecular genetics method Narrative
value: FGFR2::DBP
English
Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-fgfr2-fusion
Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))
effective: 2022-11-30
performer: Practitioner Dr. Daniel Schmidt(official)
derivedFrom: Observation Genetic variant assessment
| Code | Value[x] |
| Conclusion Text | starke Überexpression (25-fach) |
English
Generated Narrative: Observation mii-exa-molgen-therapeutische-implikation-fgfr2-fusion
Profiles: MII PR MolGen Therapeutische Implikation version: 2027.0.0-ballot.1, Therapeutic Implication version: 3.0.0
status: Final
category: Laboratory, Genetics
code: Therapeutic Implication
subject: Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))
effective: 2022-11-30
performer: Practitioner Dr. Daniel Schmidt(official)
derivedFrom: Observation Genetic variant assessment
component
code: Conclusion Text
value: Hochselektiver FGFR2-Inhibitor RLY-4008 bei Patienten mit Cholangiokarzinomen und anderen soliden Tumoren, mit oder ohne FGFR- gerichtete Vortherapie.
component
code: Medication assessed [ID]
value: Fibroblasten-Wachstumsfaktor-Rezeptor (FGFR)-Tyrosinkinase-Inhibitoren
component
code: Level of evidence
value: m1c
component
code: Associated phenotype
value: Intrahepatic bile duct carcinoma (disorder)
English
Generated Narrative: Task mii-exa-molgen-medikationsempfehlung-fgfr2-fusion
Profiles: MII PR MolGen Medikationsempfehlung version: 2027.0.0-ballot.1, Medication Recommendation version: 3.0.0
basedOn: ServiceRequest Molecular genetic test (procedure)
status: Requested
intent: proposal
code: Hochselektive FGFR-Inhibitor-Therapie
for: Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))
reasonReference: Observation Therapeutic Implication