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Increased susceptibility to juvenile myelomonocytic leukemia

MedGen UID:
905111
•Concept ID:
C4229827
•
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased susceptibility to juvenile myelomonocytic leukemia

Professional guidelines

PubMed

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M
Hum Genomics 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. PMID: 23244495Free PMC Article

Recent clinical studies

Etiology

Juvenile xanthogranuloma in Noonan syndrome.
Ali MM, Gilliam AE, Ruben BS, Tidyman WE, Rauen KA
Am J Med Genet A 2021 Oct;185(10):3048-3052. Epub 2021 May 25 doi: 10.1002/ajmg.a.62353. PMID: 34032360Free PMC Article
Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.
Bagla S, Regling KA, Wakeling EN, Gadgeel M, Buck S, Zaidi AU, Flore LA, Chicka M, Schiffer CA, Chitlur MB, Ravindranath Y
Pediatr Hematol Oncol 2021 Feb;38(1):65-79. Epub 2020 Sep 29 doi: 10.1080/08880018.2020.1814463. PMID: 32990483
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M
Hum Genomics 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. PMID: 23244495Free PMC Article
Malignant diseases in Noonan syndrome and related disorders.
Hasle H
Horm Res 2009 Dec;72 Suppl 2:8-14. Epub 2009 Dec 22 doi: 10.1159/000243773. PMID: 20029231
Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders.
Miles DK, Freedman MH, Stephens K, Pallavicini M, Sievers EL, Weaver M, Grunberger T, Thompson P, Shannon KM
Blood 1996 Dec 1;88(11):4314-20. PMID: 8943868

Diagnosis

Pediatric Neoplasms Presenting with Monocytosis.
Greenmyer JR, Kohorst M
Curr Hematol Malig Rep 2021 Jun;16(3):235-246. Epub 2021 Feb 25 doi: 10.1007/s11899-021-00611-x. PMID: 33630234
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M
Hum Genomics 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. PMID: 23244495Free PMC Article
Malignant diseases in Noonan syndrome and related disorders.
Hasle H
Horm Res 2009 Dec;72 Suppl 2:8-14. Epub 2009 Dec 22 doi: 10.1159/000243773. PMID: 20029231
Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions.
Hasle H, Kerndrup G, Jacobsen BB
Leukemia 1995 Sep;9(9):1569-72. PMID: 7658725

Prognosis

Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions.
Hasle H, Kerndrup G, Jacobsen BB
Leukemia 1995 Sep;9(9):1569-72. PMID: 7658725

Clinical prediction guides

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M
Hum Genomics 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. PMID: 23244495Free PMC Article

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