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 CBFA2T3-GLIS2 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 CBFA2T3-GLIS2 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 CBFA2T3-GLIS2 in the leukaemogenesis driving process have been recently identified. We here review the peculiarities of CBFA2T3-GLIS2-positive AML, describing its intriguing clinical and biological behaviour and providing some challenging targeting opportunities.

CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity / Masetti, R.; Bertuccio, S. N.; Pession, A.; Locatelli, F.. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - 184:3(2019), pp. 337-347. [10.1111/bjh.15725]

CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity

Locatelli F.
2019

Abstract

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 CBFA2T3-GLIS2 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 CBFA2T3-GLIS2 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 CBFA2T3-GLIS2 in the leukaemogenesis driving process have been recently identified. We here review the peculiarities of CBFA2T3-GLIS2-positive AML, describing its intriguing clinical and biological behaviour and providing some challenging targeting opportunities.
2019
acute megakaryoblastic leukaemia; acute myeloid leukaemia; CBFA2T3-GLIS2; childhood leukaemia; leukaemia diagnosis
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity / Masetti, R.; Bertuccio, S. N.; Pession, A.; Locatelli, F.. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - 184:3(2019), pp. 337-347. [10.1111/bjh.15725]
File allegati a questo prodotto
File Dimensione Formato  
Masetti_CBFA2T3-GLIS2_2019.pdf

accesso aperto

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Creative commons
Dimensione 392.1 kB
Formato Adobe PDF
392.1 kB Adobe PDF

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1481684
Citazioni
  • ???jsp.display-item.citation.pmc??? 13
  • Scopus 42
  • ???jsp.display-item.citation.isi??? 37
social impact