Open AccessCryptic ETV6-ABL1 Fusion and MLL2 Truncation Revealed by Integrative Clinical Sequencing in Multiply Relapsed Acute Lymphoblastic Leukemia
Author(s) -
Nikhil P. Mankuzhy,
Emily Walling,
Bailey Anderson,
Rajen Mody
Publication year - 2019
Publication title -
journal of pediatric hematology/oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.388
H-Index - 78
eISSN - 1536-3678
pISSN - 1077-4114
DOI - 10.1097/mph.0000000000001249
Subject(s) - medicine , etv6 , lymphoblastic leukemia , dna sequencing , fusion gene , oncology , acute lymphocytic leukemia , philadelphia chromosome , chromosomal translocation , abl , leukemia , cancer research , gene , genetics , biology , receptor , tyrosine kinase
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.