Table 2: Different PDGFRB gene fusion partners observed in the literature
Study | PDGFRB rearrangements | Fusion gene | Sex | Age (years) | Diagnosis | Treatment | Response to treatment/Duration of survival since diagnosis | Notes |
---|---|---|---|---|---|---|---|---|
Bastie, et al. [20] | t(5;10)(q33;q21) | H4-PDGFRB | M | 49 | Atypical myeloproliferative disorder | Imatinib (400 mg/day)/hydroxyurea | PR/(not precised) | Accelerated phase of disease at initiation of treatment |
Grand, et al. [29] | t(5;15)(q33;q22) | TP53BP1-PDGFRB | M | 79 | Chronic myeloid leukemia | Imatinib (400 mg/daily reduced to 300 mg/day due to cytopenia) | PR/25 months (dead) | No clinical material available to investigate the molecular basis of imatinib resistance | Albano, et al. [30] | t(5;14)(q33;q32) | KIAA1509-PDGFRB | F | 31 | Chronic Eosinophilic Leukemia (CEL) | Imatinib (200 mg/daily reduced to 100 mg/daily due to potential neurological complication) | Yes/(not precised) | Detection in gastric tissue at molecular level of an extramedullary involvement in CEL/HES |
Li, et al. [31] | t(1;5)(q21;q33) | TPM3-PDGFRB | M | 8 | Chronic Eosinophilic Leukemia (CEL) | Hydroxyurea and intermittent dose of interferon switched to imatinib (200 mg/m2 daily) | Yes/7 years | Complete cytogenetic and molecular remission |
Cornfield, et al. [32] | t(5;12)(q33;q24.1) | Due to limited material, PDGFRB fusion partner remains uncertain (GIT2 gene?) | M | 48 | Myeloid neoplasm associated with PDGFRB rearrangement | Imatinib (400 mg/day) | Yes/15 months | Association between skin lesions, ulcerations and dysregulation of the PDGFRB protein? |
Winkelmann, et al. [33] | t(5;6)(q33-34;q23) | CEP85L-PDGFRB | M | 45 | Myeloid neoplasm associated with PDGFRB rearrangement | Imatinib (400 mg/daily) | Yes/36 months | Patient in molecular remission (sentisivity of RT-PCR 10-4) |
Maccaferri, et al. [15] | Interstitial deletion of chromosome 5 | TNIP1-PDGFRB | M | 40 | Myeloid neoplasm associated with PDGFRB rearrangement | Imatinib (100 mg/day as a starting dose) | Yes/(not precised) | Delayed diagnosis due to uncommon clinical presentation (fever and acute renal failure) |
Brown, et al. [34] | t(4;5)(q21;q33) | PRKG2/PDGFRB | F | 26 | Systemic mastocytosis associated with a myeloid neoplasm with eosinophilia and abnormalities of PDGFRB | Imatinib (400 mg/daily reduced to 200 mg/daily due to thrombocytopenia and other side effects) | Yes/6 months | Possible connection between t(4;5)(q21;q33) PRKG2/PDGFRB and systemic mastocytosis |
Zou, et al. [35] | t(5;11)(q32;q13.4) | NUMA1-PDGFRB | M | 61 | Myeloid neoplasm associated with PDGFRB rearrangement | Imatinib (400 mg/daily reduced to 200 mg/daily due to induced leukopenia) | Yes/3 months |