Novel PDGFRB fusions in childhood B- and T-acute lymphoblastic leukemia

Systematic use of fluorescence in‐situ hybridisation and clinicopathological features in the screening of PDGFRB rearrangements of patients with myeloid/lymphoid neoplasms

“…PDGFRB rearrangements in myeloid and lymphoid neoplasms are rare, and disease characteristics have been determined from individual case reports or very small case series 7,10,11,25,26 . To date, only a few studies with >10 cases of PDGFRB ‐rearranged myeloid neoplasms have been published, and the studies were mainly focused on evaluating the response to imatinib or their molecular profiles 3–5,27,28 .…”

“…To date, >40 fusion partners of PDGFRB have been reported, with t(5;12)(q33;p13)/ ETV6 – PDGFRB being the most common 8–14 . The disease is usually suspected in the presence of a rearrangement involving chromosome 5q31–33 on conventional karyotyping, which can be confirmed with fluorescence in‐situ hybridisation (FISH) studies to assess involvement of PDGFRB .…”

PDGFRB mutation and tyrosine kinase inhibitor resistance in Ph-like acute lymphoblastic leukemia

“…[7][8][9][10] In particular, Ph-like ALL cases with PDGFRB fusions (eg, EBF1-PDGFRB) have been described for exquisite clinical response to dasatinib or imatinib. 7,[11][12][13][14][15] However, there is a paucity of data on the molecular basis of relapse in Ph-like ALL patients receiving ABL TKI treatment. 16,17 In this study, we identified and characterized a novel oncogenic PDGFRB fusion gene in a patient with Ph-like ALL, PDGFRB mutation-mediated TKI resistance, and also a potential therapeutic strategy for overcoming such drug resistance.…”

Sustained remission in a patient with PDGFR‐beta‐rearranged T‐lymphoblastic lymphoma and complete remission with dasatinib

“…[3][4][5] There are also case reports of patients with T-or Bcell ALL with unique PDGFRB fusions involving AGGF1 (5q13.3)-PDGFRB (5q32), PDGFRB(5q32)-DOC2(5q35.1) and SATB1(3p24.3)-PDGFRB(5q32) with variable response to TKI therapy. [6][7][8][9] To our knowledge, we have not identified any patients in the literature with relapsed (or newly diagnosed) T-ALL/LBL with a t(5;12) PDGFRB rearrangement who has been effectively treated with TKI monotherapy with a sustained remission of greater than 4 years. This extraordinary response demonstrated in this case documents the potential of using targeted molecular therapies in the context of targetable molecular alterations, especially those involving PDGFRB.…”

“…PDGFRB rearrangements have been extensively described in Ph‐like B‐ALL and there have been numerous investigations incorporating TKI therapy into established treatment regimens . There are also case reports of patients with T‐ or B‐cell ALL with unique PDGFRB fusions involving AGGF1 (5q13.3)‐PDGFRB (5q32), PDGFRB(5q32)‐DOC2(5q35.1) and SATB1(3p24.3)‐PDGFRB(5q32) with variable response to TKI therapy . To our knowledge, we have not identified any patients in the literature with relapsed (or newly diagnosed) T‐ALL/LBL with a t(5;12) PDGFRB rearrangement who has been effectively treated with TKI monotherapy with a sustained remission of greater than 4 years.…”