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STAG2
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Interpretation 82
Tier 1
STAG2
Variants
STAG2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Chronic Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

STAG2 belongs to the cohesin complex family of genes that encode protein subunits of the cohesion complex, which regulates chromosomal segregation. STAG2 has been reported to show somatic, nonsense, frameshift and occasional missense mutations throughout the gene in 6% of cases of myelodysplasia, 10% of chronic myelomonocytic leukemia, 6% of cases of acute myeloid leukemia, and less than 5% of chronic myeloid leukemia and myeloproliferative neoplasms. Mutations of STAG2 are mostly mutually exclusive of mutations in other components of the cohesin complex. STAG2 mutation is associated with a poor prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic syndromes). STAG2 mutations are also reported to be highly specific for secondary acute myeloid leukemia, and may also be helpful in identifying a subset of elderly patients with de novo acute myeloid leukemia or therapy-related AML with worse clinical outcomes.

Citations
  1. Thol F, et al. Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications. Blood 2014;123(6):914-20
  2. Kon A, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet 2013;45(10):1232-7
  3. Solomon DA, et al. Mutational inactivation of STAG2 causes aneuploidy in human cancer. Science 2011;333(6045):1039-43
  4. Thota S, et al. Genetic alterations of the cohesin complex genes in myeloid malignancies. Blood 2014;124(11):1790-8
  5. Lindsley RC, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood 2015;125(9):1367-76
Last updated: 2019-08-28 14:54:02 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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