Cytogenetic abnormalities (CA) have been reported infrequently in patients with otherwise typical aplastic anemia (AA). The relevance of CA in AA to the prognosis of AA and the evolution to the hematologic malignancies is controversial.
One hundred and twenty-nine adult AA patients from four centers located in Busan, South Korea, who had successful cytogenetics at initial diagnosis were retrospectively analyzed.
.The median follow-up duration of the overall patients was 46.8months. The ratio of severe AA to non-severe AA was 59:41. The patients were classified into 5 groups according to the CA and progression to the hematologic malignancies. Among the patients with normal cytogenetics at initial diagnosis, 117 remained AA with normal cytogenetics (Group 1). Six patients (4.7%) had CA at initial diagnosis (Group 2). The CA showed trisomy 8 in two cases and trisomy 11, deletion of Y chromosome, t(2;9), and t(22;?) in each case. One with trisomy 11 later developed monosomy 1. None of the Group 2 evolved to acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Two patients with normal cytogenetics at initial diagnosis later developed monosomy 4, and monosomy 7, respectively, with persistent AA (Group 3). Group 3 patients were treated only with intermittent transfusion but spontaneously recovered from cytopenia and are still alive without transfusion requirement. Among the AA with normal cytogenetics at initial diagnosis, four patients (3.2%) progressed to AML or MDS; two remained normal cytogenetics (Group 4), and two patients obtained structural CA (Group 5) at follow-up, respectively.
The majority of the AA patients had normal cytogenetics at initial diagnosis. Non-severe AA patients may have CA. AA patients with CA at initial diagnosis or at follow-up are not at greater risk of evolution to the hematologic malignancies, and have no significant difference in survival. Prospective studies and more patients are needed to establish the clinical relevance of CA.
No relevant conflicts of interest to declare.
Asterisk with author names denotes non-ASH members.