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SAMD9L-Associated Familial Myelodysplastic Syndrome

MedGen UID:
1719321
•Concept ID:
C5239091
•
Neoplastic Process
Synonym: SAMD9L-Associated Familial MDS

Definition

A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9L gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSAMD9L-Associated Familial Myelodysplastic Syndrome

Recent clinical studies

Etiology

Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Ahmed IA, Farooqi MS, Vander Lugt MT, Boklan J, Rose M, Friehling ED, Triplett B, Lieuw K, Saldana BD, Smith CM, Schwartz JR, Goyal RK
Biol Blood Marrow Transplant 2019 Nov;25(11):2186-2196. Epub 2019 Jul 12 doi: 10.1016/j.bbmt.2019.07.007. PMID: 31306780Free PMC Article

Prognosis

Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Ahmed IA, Farooqi MS, Vander Lugt MT, Boklan J, Rose M, Friehling ED, Triplett B, Lieuw K, Saldana BD, Smith CM, Schwartz JR, Goyal RK
Biol Blood Marrow Transplant 2019 Nov;25(11):2186-2196. Epub 2019 Jul 12 doi: 10.1016/j.bbmt.2019.07.007. PMID: 31306780Free PMC Article

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