KEGG   DISEASE: Acute promyelocytic leukemia
Entry
H02542                      Disease                                
Name
Acute promyelocytic leukemia
  Supergrp
Acute myeloid leukemia [DS:H00003]
Description
Acute promyelocytic leukemia (APL) is the most malignant form of acute myeloid leukemia (AML) with a severe bleeding tendency and a fatal course of only weeks. Morphologically, it is identified as AML-M3 by the FAB classification. APL is characterized by a balanced reciprocal translocation between chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor alpha (RARA). The majority of APL patients present with the classic PML-RARA translocation. However, approximately 5% of patients with APL have a non- characteristic translocation. Other chimeric proteins have been observed including PLZF-RARA, NUMA1-RARA, and so on.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H02542  Acute promyelocytic leukemia
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   2A60  Acute myeloid leukaemias and related precursor neoplasms
    H02542  Acute promyelocytic leukemia
Related
pathway
hsa05221 Acute myeloid leukemia   
hsa05202 Transcriptional misregulation in cancer   
Gene
PML-RARA (translocation) [HSA:5371 5914] [KO:K10054 K08527]
PLZF-RARA (translocation) [HSA:7704] [KO:K10055]
NUMA1-RARA (translocation) [HSA:4926] [KO:K16808]
Drug
Arsenic trioxide [DR:D02106]
Other DBs
ICD-11: 2A60.0
ICD-10: C92.4
MeSH: D015473
OMIM: 612376
Reference
  Authors
Jimenez JJ, Chale RS, Abad AC, Schally AV
  Title
Acute promyelocytic leukemia (APL): a review of the literature.
  Journal
Oncotarget 11:992-1003 (2020)
DOI:10.18632/oncotarget.27513
Reference
  Authors
Wang ZY, Chen Z
  Title
Acute promyelocytic leukemia: from highly fatal to highly curable.
  Journal
Blood 111:2505-15 (2008)
DOI:10.1182/blood-2007-07-102798
Reference
PMID:8387545
  Authors
Chen SJ, Zelent A, Tong JH, Yu HQ, Wang ZY, Derre J, Berger R, Waxman S, Chen Z
  Title
Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia.
  Journal
J Clin Invest 91:2260-7 (1993)
DOI:10.1172/JCI116453
Reference
PMID:9288109
  Authors
Wells RA, Catzavelos C, Kamel-Reid S
  Title
Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.
  Journal
Nat Genet 17:109-13 (1997)
DOI:10.1038/ng0997-109
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