Acute promyelocytic leukaemia (APL) is characterized by the PML/RARA fusion transcript. PML and RARA mutations have been shown to directly respond to arsenic trioxide (ATO) and all-trans retinoic (ATRA). We analysed the prevalence of PML mutations in 32 patients with de novo or therapy-related APL (t-APL; n = 5), treated with ATO. We identified one ATO-resistant t-APL patient, who presented a PML A216T mutation in both the rearranged and unrearranged PML alleles, and two mutations in the rearranged RARA gene. In this patient, subclones with different PML and RARA mutations acquired clonal dominance during the disease course, probably leading to treatment resistance.
Licia, I., Tiziana, O., Mariadomenica, D., Laura, C., Cairoli, R., Maria Teresa, V., et al. (2016). Mutations affecting both the rearranged and the unrearranged PML alleles in refractory acute promyelocytic leukaemia. BRITISH JOURNAL OF HAEMATOLOGY, 172(6), 909-913 [10.1111/bjh.13910].
Mutations affecting both the rearranged and the unrearranged PML alleles in refractory acute promyelocytic leukaemia
Cairoli Roberto;
2016
Abstract
Acute promyelocytic leukaemia (APL) is characterized by the PML/RARA fusion transcript. PML and RARA mutations have been shown to directly respond to arsenic trioxide (ATO) and all-trans retinoic (ATRA). We analysed the prevalence of PML mutations in 32 patients with de novo or therapy-related APL (t-APL; n = 5), treated with ATO. We identified one ATO-resistant t-APL patient, who presented a PML A216T mutation in both the rearranged and unrearranged PML alleles, and two mutations in the rearranged RARA gene. In this patient, subclones with different PML and RARA mutations acquired clonal dominance during the disease course, probably leading to treatment resistance.File | Dimensione | Formato | |
---|---|---|---|
Iaccarino-2016-Brit J Haematol-VoR.pdf
Solo gestori archivio
Descrizione: Short Report
Tipologia di allegato:
Publisher’s Version (Version of Record, VoR)
Licenza:
Tutti i diritti riservati
Dimensione
271.96 kB
Formato
Adobe PDF
|
271.96 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.