Table 4. Practical Guide to Interpretation of Cytogenetic Abnormalities detected by FISH in Clinical Practice.
| Cytogenetic abnormality |
Clinical setting in which abnormality is detected |
|
|---|---|---|
| SMM | MM | |
| Trisomies | Intermediate risk of progression, median TTP of 3 years | Good prognosis, standard-risk MM, median OS 7–10 years Most have myeloma bone disease at diagnosis Excellent response to lenalidomide-based therapy |
| t(11;14) (q13;q32) | Standard risk of progression, median TTP of 5 years | Good prognosis, standard-risk MM, median OS 7–10 years |
| t(6;14) (p21;q32) | Standard risk of progression, median TTP of 5 years | Good prognosis, standard-risk MM, median OS 7–10 years |
| t(4;14) (p16;q32) | High risk of progression, median TTP of 2 years | Intermediate-risk MM, median OS 5 years Needs bortezomib-based initial therapy and early ASCT (if eligible), followed by bortezomib-based consolidation/maintenance |
| t(14;16) (q32;q23) | Standard risk of progression, median TTP of 5 years | High-risk MM, median OS 3 years Associated with high levels of FLC and 25% present with acute renal failure as initial MDE |
| t(14;20) (q32;q11) | Standard risk of progression, median TTP of 5 years | High-risk MM, median OS 3 years |
| Gain(1q21) | High risk of progression, median TTP of 2 years | Intermediate-risk MM, median OS 5 years |
| Del(17p) | High risk of progression, median TTP of 2 years | High-risk MM, median OS 3 years |
| Trisomies plus any one of the IgH translocations | Standard risk of progression, median TTP of 5 years | May ameliorate adverse prognosis conferred by high-risk IgH translocations and del 17p |
| Isolated monosomy 13 or isolated monosomy 14 | Standard risk of progression, median TTP of 5 years | Effect on prognosis is not clear |
| Normal | Low risk of progression, median TTP of 7–10 years | Good prognosis, probably reflecting low tumor burden, median OS >7–10 years |
Abbreviations: ASCT, autologous stem cell transplantation; FISH, fluorescent in situ hybridization; FLC, free light chain; IgH, immunoglobulin heavy chain; MDE, myeloma-defining event; MM, multiple myeloma; OS, overall survival; SMM, smoldering multiple myeloma, TTP, time to progression.