Preferred Label : Burkitt lymphoma;
Symbol : BL;
CISMeF acronym : BL;
Type : Phenotype, molecular basis known;
Description : Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50%
of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning,
2006). It results from chromosomal translocations that involve the MYC gene (190080)
and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200).
Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the
pathogenetic mechanisms are not clear.;
Inheritance : Isolated cases; Somatic mutation;
Molecular basis : Caused by mutation in the MYC protooncogene, bHLH transcription factor gene (MYC,
190080.0001);
Neoplasia : Burkitt lymphoma (B-cell lymphoma); Jaw and kidney tumor (endemic form); Monomorphic cells, medium-sized, with round nuclei, multiple nucleoli, and moderate
amount of cytoplasm; Abdominal tumors (immunodeficiency-associated form); Ileal, cecal, ovarian, and breast tumors, occasionally (endemic form); 'Starry-sky' pattern;
Laboratory abnormalities : Elevated lactate dehydrogenase; Chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa
light chain (147200, 2p12) locus; Chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda
light chain (147220, 22q11.2) locus; Elevated uric acid; Chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy
chain (147100, 14q32) locus;
Prefixed ID : #113970;
Origin ID : 113970;
UMLS CUI : C0006413;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
