DISEASE: Juvenile myelomonocytic leukemia


Entry
H02541                      Disease                                
Name
Juvenile myelomonocytic leukemia
Description
Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal transduction resulting from mutations in components of the RAS-signaling pathway.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H02541  Juvenile myelomonocytic leukemia
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic and myeloproliferative neoplasms
    2A42  Juvenile myelomonocytic leukaemia
     H02541  Juvenile myelomonocytic leukemia
Related
pathway
hsa04014  Ras signaling pathway
Gene
PTPN11 [HSA:5781] [KO:K07293]
ARHGAP26 [HSA:23092] [KO:K20071]
CBL [HSA:867] [KO:K04707]
NF1 [HSA:4763] [KO:K08052]
Other DBs
ICD-11: 2A42
ICD-10: C93.3
MeSH: D054429
OMIM: 607785
Reference
PMID:30504325
  Authors
Niemeyer CM
  Title
JMML genomics and decisions.
  Journal
Hematology Am Soc Hematol Educ Program 2018:307-312 (2018)
DOI:10.1182/asheducation-2018.1.307
Reference
PMID:22195407
  Authors
Proytcheva M
  Title
Juvenile myelomonocytic leukemia.
  Journal
Semin Diagn Pathol 28:298-303 (2011)
DOI:10.1053/j.semdp.2011.08.007
Reference
PMID:10908648
  Authors
Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
  Title
The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
  Journal
Proc Natl Acad Sci U S A 97:9168-73 (2000)
DOI:10.1073/pnas.150079597

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Disease (1)   
   OMIM (1)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (3)   
   PubMed (3)   
All databases (12)   

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