Clinical, hematologic, and cytogenetic characteristics of the 5q− syndrome patients
| Patient no. . | Age, y . | Years since diagnosis . | Hb level, g/L . | WBC count, ×109/L . | Plt count, ×109/L . | Ongoing treatment . | CD34+CD38+ cells . | CD34+CD38−Thy-1+ cells . | ||
|---|---|---|---|---|---|---|---|---|---|---|
| % of MNCs . | % of FISH 5q− (no. of nuclei evaluated by FISH) . | % of MNCs . | % of FISH 5q− (no. of nuclei evaluated by FISH) . | |||||||
| 1 | 83 | 3 | 96 | 3.3 | 374 | E | 1.50 | 100 (216) | 0.16 | 99 (156) |
| 2 | 77 | 8 | 100 | 3.8 | 130 | E | 4.00 | 99 (262) | 0.10 | 100 (43) |
| 3 | 54 | 1 | 108 | 6.1 | 231 | E | 0.60 | 100 (224) | 0.01 | 96 (95) |
| 4 | 89 | 2 | 85 | 5.3 | 236 | E | 0.45 | 100 (221) | 0.08 | 100 (145) |
| 5 | 60 | 1 | 120 | 9.2 | 1234 | NONE | 1.60 | 100 (244) | 0.05 | 95 (264) |
| 6 | 58 | 4 | 122 | 3.3 | 448 | E | 3.20 | 99 (140) | 0.08 | 99 (165) |
| 7 | 64 | 3 | 100 | 4.9 | 267 | NONE | 3.20 | 98 (259) | 0.11 | 92 (76) |
| 8 | 85 | 1 | 102 | 3.6 | 309 | NONE | 0.50 | 93 (323) | 0.09 | 98 (251) |
| 9 | 85 | 7 | 76 | 1.3 | 95 | P | 0.43 | 100 (47) | 0.50 | 97 (73) |
| 10 | 82 | 3 | 103 | 6.4 | 443 | EPO, P | 0.34 | 96 (24) | 0.20 | 100 (51) |
| 11 | 86 | 8 | 129 | 4.7 | 204 | EPO | 1.50 | ND | 0.15 | 95 (40) |
| MDS mean [SEM] | 104 [4.7] | 4.7 [0.6] | 361 [93] | 1.57 [0.40] | 98.5 [0.73] | 0.14 [0.04] | 97.4 [0.79] | |||
| Normal mean* [SEM] | 135 | 7.0 | 270 | 1.80 [0.20] | 6.2† | 0.04 [0.01] | 6.2† | |||
| Patient no. . | Age, y . | Years since diagnosis . | Hb level, g/L . | WBC count, ×109/L . | Plt count, ×109/L . | Ongoing treatment . | CD34+CD38+ cells . | CD34+CD38−Thy-1+ cells . | ||
|---|---|---|---|---|---|---|---|---|---|---|
| % of MNCs . | % of FISH 5q− (no. of nuclei evaluated by FISH) . | % of MNCs . | % of FISH 5q− (no. of nuclei evaluated by FISH) . | |||||||
| 1 | 83 | 3 | 96 | 3.3 | 374 | E | 1.50 | 100 (216) | 0.16 | 99 (156) |
| 2 | 77 | 8 | 100 | 3.8 | 130 | E | 4.00 | 99 (262) | 0.10 | 100 (43) |
| 3 | 54 | 1 | 108 | 6.1 | 231 | E | 0.60 | 100 (224) | 0.01 | 96 (95) |
| 4 | 89 | 2 | 85 | 5.3 | 236 | E | 0.45 | 100 (221) | 0.08 | 100 (145) |
| 5 | 60 | 1 | 120 | 9.2 | 1234 | NONE | 1.60 | 100 (244) | 0.05 | 95 (264) |
| 6 | 58 | 4 | 122 | 3.3 | 448 | E | 3.20 | 99 (140) | 0.08 | 99 (165) |
| 7 | 64 | 3 | 100 | 4.9 | 267 | NONE | 3.20 | 98 (259) | 0.11 | 92 (76) |
| 8 | 85 | 1 | 102 | 3.6 | 309 | NONE | 0.50 | 93 (323) | 0.09 | 98 (251) |
| 9 | 85 | 7 | 76 | 1.3 | 95 | P | 0.43 | 100 (47) | 0.50 | 97 (73) |
| 10 | 82 | 3 | 103 | 6.4 | 443 | EPO, P | 0.34 | 96 (24) | 0.20 | 100 (51) |
| 11 | 86 | 8 | 129 | 4.7 | 204 | EPO | 1.50 | ND | 0.15 | 95 (40) |
| MDS mean [SEM] | 104 [4.7] | 4.7 [0.6] | 361 [93] | 1.57 [0.40] | 98.5 [0.73] | 0.14 [0.04] | 97.4 [0.79] | |||
| Normal mean* [SEM] | 135 | 7.0 | 270 | 1.80 [0.20] | 6.2† | 0.04 [0.01] | 6.2† | |||
BM morphology and blood values were investigated in connection with BM aspiration for the present studies. All patients were females and had a verified diagnosis of 5q− syndrome15 according to the WHO classification, with a typical BM morphology including hypolobular megakaryocytes and a low BM blast count (<5%; RA according to FAB classification), an isolated 5q deletion encompassing q13-q15 to q31-q35, normal to elevated platelet counts, and normal to slightly reduced WBC count. The relative frequencies of CD34+CD38+ and CD34+CD38−Thy-1+ cells were calculated from the number of BM MNCs and the fluorescence-activated cell sorter (FACS) profiles. If there were sufficient cells, at least 100 and 200 nuclei were always counted.
Hb indicates hemoglobin; WBC, white blood cell; Plt, platelet; E, erythrocyte transfusions; EPO, erythropoietin; P, prednisolone; and ND, not determined.
n=10.
Cut-off for FISH del(5q); median plus 2SD.