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CBFA2T3‐GLIS2‐positive acute myeloid leukaemia. A peculiar paediatric entity
Author(s) -
Masetti Riccardo,
Bertuccio Salvatore N.,
Pession Andrea,
Locatelli Franco
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15725
Subject(s) - myeloid leukaemia , medicine , chronic myeloid leukaemia , myeloid , hematology , pediatrics , cancer research
Summary The scenario of paediatric acute myeloid leukaemia ( AML ), particularly non‐Down syndrome acute megakaryoblastic leukaemia (non‐ DS ‐ AMKL ), has been recently revolutionized by the advent of large‐scale, genomic sequencing technologies. In this changing landscape, a significantly relevant discovery has been represented by the identification of the CBFA 2T3 ‐ GLIS 2 fusion gene, which is the result of a cryptic inversion of chromosome 16. It is the most frequent chimeric oncogene identified to date in non‐ DS ‐ AMKL , although it seems not to be exclusively restricted to the French‐American‐British M7 subgroup. The CBFA 2T3 ‐ GLIS 2 fusion gene characterizes a subtype of leukaemia that is specific to paediatrics, having never been identified in adults. It characterizes an extremely aggressive leukaemia, as the presence of this fusion is associated with a grim outcome in almost all of the case series reported, with overall survival rates ranging between 15% and 30%. Although the molecular basis that underlies this leukaemia subtype is still far from being completely elucidated, unique functional properties induced by CBFA 2T3‐ GLIS 2 in the leukaemogenesis driving process have been recently identified. We here review the peculiarities of CBFA 2T3 ‐ GLIS 2 ‐positive AML , describing its intriguing clinical and biological behaviour and providing some challenging targeting opportunities.