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