PDGFRB Gene Rearrangement

Preferred Label : PDGFRB Gene Rearrangement;

NCIt synonyms : Platelet Derived Growth Factor Receptor Beta Gene Rearrangement; CD140b Gene Rearrangement; PDGFR1 Gene Rearrangement; JTK12 Gene Rearrangement;

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

Details

Origin ID

C84272;

UMLS CUI

C2827357;

Automatic exact mappings (from CISMeF team)
- PDGFRB gene rearrangements [LOINC component]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- PDGFRB 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 5 [NCIt concept]
is_molecular_abnormality_of_disease
- Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) [NCIt concept]
- Myeloid/Lymphoid Neoplasms with PDGFRB 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
- PDGFRB Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

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