Table 1.
Longitudinal registration of disease stage, laboratory values, cytogenetic and molecular analyses.
| December 1998 | June 2001 | September 2010 | June 2011 | |
|---|---|---|---|---|
| Clinical features | Pericarditis and pleuritis | Routine follow-up | Progressive BM failure | BM failure, splenomegaly, and possible myelosarcoma |
| Lab results | ||||
| Hemoglobin (mmol/L) | 7.9 | 8.5 | 5.1 | 5.3 |
| Platelets (109/L) | 206 | 241 | 218 | 25 |
| Leukocytes (109/L) | 23.7 | 33.9 | 55.5 | 84.2 |
| Neutrophils (109/L) | 12.6 | 8.8 | 46.6 | 61.5 |
| Monocytes (109/L) | 5.45 | 18.6 | 3.03 | 4.21 |
| Morphology | CMML-1 | CMML-1 | CMML-1 | Dry tap, inconclusive |
| Blasts incl. promonocytes in BM | <5% | <5% | <5% | 20%a |
| Flow cytometry | ND | ND | CMML (BM) | AML (PB) |
| 3% CD34+CD117+myeloblasts | 40% CD34+CD117+myeloblasts | |||
| 84% CD64+myelomonocytoid cells | 10% co-expression of CD64 | |||
| G-banding | ND | 46,XY[20] | 46,XY,dup(9)(p21p21)[6]/46,XY[19] | 45,X–Y[5]/46,XY[20] |
| TET2mutation | Positive | ND | Positive | Positive |
| JAK2mutation | Negative | ND | 93% of BM MNCs | 92% of PB MNCs |
| Array CGH | ND | ND | del(8)(q23.2q24.11) | ND |
| Interphase nuclei FISH | ND | BM | BM | PB |
| Neg. for del(8q) | 88% cells with del(8q) | 15% cells with del(8q) | ||
BM: bone marrow; ND: not done; PB: peripheral blood; MNCs: mononuclear cells.
a
Blast count in PB, due to dry tap.