Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia.
Samuele RenziFatimah AlgawahmedScott DavidsonKarin P S LangenbergFabio FuligniSalah AliNathaniel AndersonLedia BrungaJack BartramMohamed AbdelhaleemAhmed NaqviKassa BeimnetAndre SchuhAnne TierensDavid MalkinAdam ShlienMary ShagoAnita VillaniPublished in: Current oncology (Toronto, Ont.) (2023)
ETV6-ABL1 gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an ETV6-ABL1 fusion transcript, with an intact, in-frame ABL tyrosine-kinase domain. Of note, secondary ETV6-ABL1 -rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the ETV6-ABL1 fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations.
Keyphrases
- tyrosine kinase
- acute lymphoblastic leukemia
- chronic myeloid leukemia
- acute myeloid leukemia
- allogeneic hematopoietic stem cell transplantation
- epidermal growth factor receptor
- stem cells
- prognostic factors
- single cell
- healthcare
- bone marrow
- palliative care
- genome wide
- copy number
- rna seq
- advanced non small cell lung cancer
- young adults
- quality improvement
- mass spectrometry
- case report
- artificial intelligence
- clinical practice
- data analysis
- chronic pain
- rectal cancer
- replacement therapy
- combination therapy
- mesenchymal stem cells
- deep learning
- pain management
- health insurance
- atomic force microscopy