Abstract
The ETV6-ABL1 fusion is a rare genetic aberration classified as Philadelphia chromosome-like high-risk B-cell precursor acute lymphoblastic leukemia. We present the case of a child with multiply relapsed B-cell precursor acute lymphoblastic leukemia in which next-generation sequencing identified this cryptic fusion, undetected by standard testing, resulting in sustained clinical response to targetted therapy with imatinib. Upon subsequent relapse, repeat next-generation sequencing identified an additional aberration, MLL2-ADCY9, as a possible molecular driver conferring resistance to therapy. This report demonstrates the exciting potential of integrative clinical sequencing in identifying previously undetected actionable findings leading to improved outcomes in pediatric oncology patients.
References
Jul 1, 2010·Genes, Chromosomes & Cancer·Jan ZunaJan Trka
Jul 14, 2010·British Journal of Haematology·Andrea MaloneOwen P Smith
Aug 18, 2012·Cancer Cell·Kathryn G RobertsCharles G Mullighan
Mar 26, 2014·Nature Communications·Brenton G MarScott A Armstrong
Mar 18, 2015·Nature Reviews. Clinical Oncology·Kathryn G Roberts, Charles G Mullighan
Mar 22, 2015·Cancer Genetics·David J Ford, Andrew K Dingwall
Apr 2, 2015·Therapeutic Advances in Hematology·Colleen E Annesley, Patrick Brown
Sep 2, 2015·JAMA : the Journal of the American Medical Association·Rajen J ModyArul M Chinnaiyan
May 28, 2016·Haematologica·Marketa ZaliovaJan Zuna
Aug 30, 2016·Biomarker Research·Carlos A TiradoGary Schiller
Oct 7, 2016·Acta Haematologica·Naoki MoriJunji Tanaka
Oct 18, 2016·Pediatric Blood & Cancer·Rajen J ModyArul M Chinnaiyan
Nov 5, 2016·Leukemia Research Reports·Purvi M KakadiaStefan K Bohlander
Nov 12, 2016·Annals of Laboratory Medicine·Soo In ChoiYou Kyoung Lee
Dec 4, 2016·Hematology·Thai Hoa Tran, Mignon L Loh
Apr 15, 2017·Blood·Shalini C ReshmiStephen P Hunger
Nov 28, 2017·International Journal of Hematology·Suguru UemuraYoshiyuki Kosaka
Citations
Dec 31, 2020·Haematologica·Thomas MilanBrian T Wilhelm
Dec 15, 2020·Critical Reviews in Oncology/hematology·Isabel Cunningham
Mar 5, 2021·British Journal of Haematology·Jiajia ZhengShaoyan Hu