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Acute promyelocytic leukemia; APL

Disease ID:39
Name:Acute promyelocytic leukemia; APL
Associated with:1 target
Database Links
Disease Ontology: DOID:0060318
OMIM: 612376
Orphanet: ORPHA520


Retinoic acid receptor-α
Role:  Alteration at the receptor level: APL is caused by several translocations that implicate the human RARa gene.
Comments:  APL is a subtype of acute myelogenous leukemia (AML). The reciprocal chromosomal translocation between RARa and promyelocyte leukemia protein (PML) human genes produces a fusion protein PML-RARa. The use of supraphysiological doses of ATRA lead to the remission in APL patients. In contrast, the fusion protein resulting from the translocation between RARa and the promyelocytic leukemia zinc finger (PLZF) is insensitive to ATRA treatment.
References:  1-3


No ligand related data available for Acute promyelocytic leukemia; APL


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1. de Thé H, Vivanco-Ruiz MM, Tiollais P, Stunnenberg H, Dejean A. (1990) Identification of a retinoic acid responsive element in the retinoic acid receptor beta gene. Nature, 343 (6254): 177-80. [PMID:2153268]

2. Degos L, Wang ZY. (2001) All trans retinoic acid in acute promyelocytic leukemia. Oncogene, 20 (49): 7140-5. [PMID:11704842]

3. Lin RJ, Egan DA, Evans RM. (1999) Molecular genetics of acute promyelocytic leukemia. Trends Genet, 15 (5): 179-84. [PMID:10322484]