Table I.
Recurrent Cytogenetic Abnormalities in AA
| Study | AA Patients, n |
Age, years; median (range) |
AC, n (%) | AC at Dx, n (%) |
Recurrent Abnormalities (n)** |
|---|---|---|---|---|---|
| Appelbaum et al (1987) | 176 | 24 (4–51) | 7 (4.0%) | n/a | −7 (3), +8 (2), +6 (2), +21, del (5q) |
| de Planque et al (1988) | 38 | 47 (22–72) AC | 5 (13.2%) | n/a | −7 (3) |
| Mikhailova et al (1996) § | 69 | 30 (7–70) | 18 (26.1%) | 3 (4.3%) | + 8 (8), −7 (2), del(5q) |
| Jameel et al (1997) | 31 | 20 (7–55) | 7 (22.6%) | 7 (22.6%) | +8 (4) |
| Kaito et al (1998) | 72 | 39 (17–79) | 5 (6.9%) | n/a | −7 (4), +8, +21 |
| Fuhrer et al (1998) | 114 | 9.5 (0.9 – 15.8) | 6 (5.3%) | 2 (1.8%) | −7 (2), del(5q), +8, +21 |
| Piaggio et al (1999) § | 97 | 26 (7–70) | 13 (13.4%) | 0 (0%) | +8 (4), del(7q), +15 |
| Bacigalupo et al (2000) § | 54 | 16 (1–72) | 7 (13.0%) | 1 (1.9%) | −7 (2), del(5q) |
| Ohga et al (2002) § | 159 | 11 (5–14) AC | 7 (4.4%) | 7 (4.4%) | del(5q), −7, del(13q), del(20q) |
| Maciejewski et al (2002) | 189 | 48 (8–77) | 30 (15.9%) | n/a | −7 (12), +8 (7), del(13q) (4), del(5q), +6, del(20q), +21 |
| Kojima et al (2002) | 113 | 9 (1–18) | 16 (14.2%) | 0 (0%) | −7 (7), +8 (3), +21, del(13q) |
| Tisdale et al (2002) | 31 | n/a | 3 (9.7%) | 0 (0%) | +8 (2), del(20q) |
| Rosenfeld et al (2003) | 122 | 35 (n/a) | 13 (10.7%) | 0 (0%) | −7 (9), +8 (2) |
| Gupta et al (2006) | 81 |
*33 (5–73) NC *40.5 (31–64) AC |
10 (12.3%) | 10 (12.3%) | +15 (2), +8 (2), +6 (2), −7, 20q- |
| Tripathi et al (2008) | 50 | 22 (13–71) | 7 (14.0%) | 2 (4.0%) | +8 (3), +6 (2), −7, +21 |
| Kim et al (2010) | 600 | 67 (17–87) | 28 (4.7%) | 28 (4.7%) | +8 (15), −7/del(7q) (5), +15 |
| Lee et al (2010) | 127 | 53 (25–70) | 12 (9.4%) | 6 (4.7%) | +8 (2), −7 |
| Li et al (2011) | 802 | 23 (3–74) | 42 (5.2%) | 10 (1.2%) | −7 (11), +8 (4), +21 (2), del(20q) |
| Holbro et al (2012) ǂ | 86 | 9 (n/a) | 6 (7.0%) | 4 (4.7%) | del(13q) (6) |
| Kulasekararaj et al (2014) | 131 | 44 (17–84) | 13 (9.9%) | n/a | −7 (3), +8 (3), del(13q), +15 |
| Huang et al (2015) | 138 | 30.7 (5–76) | 8 (5.8%) | n/a | +8 (3), −7(2), del(13q) (2) |
| Yoshizato et al (2015) | 417 | n/a (2–88) | 18 (4.3%) | n/a | −7 (7), del(13q) (2), +8 |
| Hosokawa et al (2015) ǂ | 754 | *58 (10–87) AC | 22 (2.9%) | n/a | +8 (22) |
Abbreviations: AA = Aplastic Anaemia, NC = Normal Cytogenetics, AC= Abnormal Cytogenetics, Dx= Diagnosis, n/a = Not available
*
Age at diagnosis,
§
Reports cytogenetic remission,
ǂ
Focused solely on the presented abnormality,
**
isted for n>1.
Abnormalities depicted in color have a known prognostic correlation in AA: Blue, associated with response to immunosuppression and connotes a neutral or good prognosis in AA; Red, associated with poor survival and myelodysplastic syndrome transformation (see text). Referenced studies are listed in Supplemental Information.