PDGFRA Gene Rearrangement

Preferred Label : PDGFRA Gene Rearrangement;

NCIt synonyms : PDGFRalpha Gene Rearrangement; PDGFRA Rearrangement; PDGFR-2 Gene Rearrangement; CD140A Gene Rearrangement; RHEPDGFRA Gene Rearrangement; PDGFR2 Gene Rearrangement; Platelet-Derived Growth Factor Receptor Alpha Gene Rearrangement;

NCIt definition : Rearrangement of the PDGFRA gene, resulting in the formation of a fusion transcript and aberrant tyrosine kinase activity. It has been described in hematologic malignancies usually presenting as chronic eosinophilic leukemia.;

Details

Origin ID

C84271;

UMLS CUI

C2707644;

Currated CISMeF NLP mapping
- PDGFRA gene rearrangements [LOINC component]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- PDGFRA gene rearrangements [LOINC component]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 4 [NCIt concept]
is_molecular_abnormality_of_disease
- Chronic Eosinophilic Leukemia with FIP1L1-PDGFRA [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement [NCIt concept]
is_not_molecular_abnormality_of_disease
- Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Atypical Chronic Myeloid Leukemia [NCIt concept]
- Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Eosinophilic Leukemia, Not Otherwise Specified [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, Philadelphia Chromosome Negative, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive [NCIt concept]
- Chronic Myelomonocytic Leukemia with Eosinophilia [NCIt concept]
- Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Meningeal Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Recurrent Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Recurrent Atypical Chronic Myeloid Leukemia [NCIt concept]
- Recurrent Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Refractory Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Refractory Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
molecular_abnormality_involves_gene
- PDGFRA Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

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