Table 1.

Clinical features recorded by medical record review

Data typeSpecific variables recorded
Genetic/cytogenetic abnormalities  ASXL1, TET2, RUNX1, SETBP1, DNMT3A, U2AF1, EZH2, TP53, BCOR, BCORL1, EZH2, CUX1, del(13q), −Y, +8, del 7/7q, complex karyotype, germ line testing for inherited causes of AA (see the supplemental Methods for full list) 
Blood counts  Hgb, Plt, ALC, ANC, IPF, MCV, ARC, RC 
PNH clone PNH flow cytometry date, PNH clone distribution (RBC type 2, type 3, total), monocyte, granulocyte, initial PNH clone, secondary PNH clone 
Demographic information Age at definitive AA diagnosis, age at sMN diagnosis, sex 
Follow-up information Date of last appointment, date of death, date of initial diagnosis, survival time after diagnosis, survival time after sMN 
Clonal evolution event information Date of sMN diagnosis, sMN type (AML, MDS), time elapsed between AA diagnosis and sMN evolution 
Treatment information Treatment types (antithymocyte globulin, cyclosporine, eltrombopag, HSCT), treatment start date(s), response (NR/PR/CR§), time elapsed between diagnosis and treatment type, time elapsed between treatment and sMN evolution 
Miscellaneous AST, ALT, ferritin, bone marrow cellularity (%), aplastic anemia disease severity  
Data typeSpecific variables recorded
Genetic/cytogenetic abnormalities  ASXL1, TET2, RUNX1, SETBP1, DNMT3A, U2AF1, EZH2, TP53, BCOR, BCORL1, EZH2, CUX1, del(13q), −Y, +8, del 7/7q, complex karyotype, germ line testing for inherited causes of AA (see the supplemental Methods for full list) 
Blood counts  Hgb, Plt, ALC, ANC, IPF, MCV, ARC, RC 
PNH clone PNH flow cytometry date, PNH clone distribution (RBC type 2, type 3, total), monocyte, granulocyte, initial PNH clone, secondary PNH clone 
Demographic information Age at definitive AA diagnosis, age at sMN diagnosis, sex 
Follow-up information Date of last appointment, date of death, date of initial diagnosis, survival time after diagnosis, survival time after sMN 
Clonal evolution event information Date of sMN diagnosis, sMN type (AML, MDS), time elapsed between AA diagnosis and sMN evolution 
Treatment information Treatment types (antithymocyte globulin, cyclosporine, eltrombopag, HSCT), treatment start date(s), response (NR/PR/CR§), time elapsed between diagnosis and treatment type, time elapsed between treatment and sMN evolution 
Miscellaneous AST, ALT, ferritin, bone marrow cellularity (%), aplastic anemia disease severity  

ALC, absolute leukocyte count; ALT, alanine aminotransferase ANC, absolute neutrophil count; ARC, absolute reticulocyte count; AST, aspartate aminotransferase; CR, complete response; Hgb, hemoglobin; IPF, immature platelet fraction; MCV, mean corpuscular volume; NR, no response; Plt, platelet count; PR, partial response; RC%, reticulocyte count percentage.

Data obtained from the initial diagnostic workup and at sMN diagnosis. Recorded as VAF (%) of mutation or as presence/absence of mutation.

Data obtained from the initial diagnostic workup and at the 6-month post-IST assessment.

As defined by the Camitta criteria19.

§

As defined by the National Institutes of Health criteria20,21.

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