77171-7
KIT gene exon 11 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Descriptions
LP189730-7 KIT gene exon 11
The KIT gene (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) [HGNC Gene ID:6342] is located on chromosome 4q12. This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3815]
Source: National Center for Biotechnology Information (NCBI) Gene
LP189730-7 KIT gene exon 11
The cause of most gastrointestinal stromal tumors (GISTs) results from activating mutations in the KIT gene (~85%), primarily those in exons 11 (~70%) and 9 (~10-15%). PMID: 14645423 Patients with exon 9 mutations have a longer progression free survival and overall survival compared to patients with KIT exon 11 mutations. PMID: 18955458 Patient responses to KIT inhibitors (e.g. imatinib) varies depending on the mutations found. Patients with exon 9 mutations are more likely to respond to second line sunitinib than those with other KIT mutations. PMID: 20124181
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- KIT gene exon 11 targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- KIT Exon 11 Mut Anl Bld/T
- Display Name
- KIT gene exon 11 targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- KIT gene Exon 11 targeted mutation analysis, Blood or tissue specimen
Example Answer List: LL3292-1
Source: Catalogue Of Somatic Mutations In Cancer- Code System
- COSMIC
- Code System OID
- 2.16.840.1.113883.3.912
- Link to External List
- http://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=KIT
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| p.L589P | LA22771-2 | ||
| p.I563_D572del | LA22769-6 | ||
| p.I563_L576del | LA22770-4 | ||
| Negative for the mutations and variants analyzed | LA22756-3 |
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.63
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen KIT, exon 11 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al exón 11 del gen KIT: |
| fr-FR | French (France) | KIT gène exon 11 mutation cible trouvée: |
| it-IT | Italian (Italy) | KIT, gene exon 11 analisi di mutazione mirata: Synonyms: Gene KIT Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | KIT-gen exon 11 doelgerichte mutatie-analyse: Synonyms: KIT gen KIT gen exon 11 molgen targeted |
| tr-TR | Turkish (Turkey) | KIT geni ekzon 11 Mutasyon analizi: |
| zh-CN | Chinese (China) | KIT 基因外显子 11 突变分析: Synonyms: C-Kit; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=77171-7
LOINC Copyright
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