Table 2.

The clinical characteristics, prognoses, and potential targeted treatments in MDS patients with selected genetic abnormalities.

Genetic Abnormality	Mutational Frequency	Clinical Characteristics	Therapeutics or Potential Targeted Therapy	Prognosis	Additional Comments
del(5q)	10–15%	Anemia with or without neutropenia/thrombocytosis	Lenalidomide	Good	Isolated del(5q) is the only cytogenetic abnormality identified as a specific subtype in the WHO classification of MDS
del(7q)	50% (t-MDS), 10% (de novo MDS)	Severe cytopenias, increased risk of infection	Hypomethylating agents	Intermediate
trisomy 8	5–10%	Cytopenias, autoimmune manifestations	Immunosuppressive agents	Intermediate
del(20q)	2%	Thrombocytopenia	NA	Good
del(17p)	1%	Associated with t-MDS	NA	Very poor
-Y	NA	Benign clinical course	NA	Very good	Age-related phenomenon
-X	Rare	Usually benign course	NA	Intermediate	Age-related phenomenon
Complex karyotype with 3 chromosomal abnormalities	10%	Cytopenias, increased resistance to chemotherapeutic agents	NA	Poor	Complex karyotype with >3 chromosomal abnormalities confers very poor prognosis
TP53 mutation	5–20%	Commonly found in t-MDS and AML	Hypomethylating agents, APR-246	Poor	TP53 is an independent marker for prognosis and relapse even after allogeneic BMT
TP53 mutation and del(5q)	20%	Aggressive disease with increased risk for transformation to AML	Hypomethylating agents	Poor	No response to lenalidomide
TP53 mutation and complex karyotype		High bone marrow blast proportion, severe anemia, thrombocytopenia	Hypomethylating agents	Very poor

Abbreviations: NA, not available; del, deletion, WHO, world health organization; t-MDS, therapy-related myelodysplastic syndrome; AML, acute myeloid leukemia.