Terminal deoxynucleotidyl transferase (TdT) was initially considered a
s a marker of immature lymphoid cells, but many studies have since pro
vided conclusive evidence for the existence of TdT+ cases of acute mye
loid leukemia (AML). The reported incidence of TdT + AML cases varies
largely (from 0 % to 55 %, average of combined data of the literature
18%, children 19%, and adults 21 %) suggesting interlaboratory differe
nces in the types of AML examined, the sensitivity of the method used,
and the percentage of positive blasts taken as cut-off value. Signifi
cantly higher frequencies of TdT+ AML were reported in studies employi
ng immunocytochemical staining (alkaline phosphatase anti-alkaline pho
sphatase or immunoperoxidase) than in series using immunofluorescence
microscopy or biochemical assays. Statistical analysis of various cut-
off levels demonstrates an inverse correlation between cut-off point a
nd incidence. The combined data show that TdT-positivity is more commo
n in the immature cell types (M0, M1), with no correlation with age or
sex. Except for contested suggestions of an association with t(6;9) a
nd t(8;21), no clear relationship between karyotype and TdT status has
been documented. Although an association between T-cell receptor or i
mmunoglobulin gene rearrangements and expression of TdT in AML was pos
tulated, subsequent studies could not demonstrate this correlation. Th
ere was no significant relationship with other immunophenotypic marker
s except for CD34 positivity suggesting that the TdT + cells represent
an immature population. The percentage of positive cells was usually
lower in AML than in ALL; in most cases only a subpopulation of the AM
L cells was TdT+. Thus, TdT could be viewed as a marker of hematopoiet
ic immaturity. In about one-half of the studies on adults, TdT express
ion was reported to indicate a poor prognosis; others did not find any
prognostic difference between TdT + and TdT - AML cases. No correlati
on between TdT-positivity and prognosis was found in childhood AML.