RT Journal Article
T1 PLZF-RARα, NPM1-RARα, and Other Acute Promyelocytic Leukemia Variants: The PETHEMA Registry Experience and Systematic Literature Review.
A1 Sobas, Marta
A1 Talarn-Forcadell, Maria Carme
A1 Martínez-Cuadrón, David
A1 Escoda, Lourdes
A1 García-Pérez, María J
A1 Mariz, Jose
A1 Mela-Osorio, María J
A1 Fernández, Isolda
A1 Alonso-Domínguez, Juan M
A1 Cornago-Navascués, Javier
A1 Rodríguez-Macias, Gabriela
A1 Amutio, María E
A1 Rodríguez-Medina, Carlos
A1 Esteve, Jordi
A1 Sokół, Agnieszka
A1 Murciano-Carrillo, Thais
A1 Calasanz, María J
A1 Barrios, Manuel
A1 Barragán, Eva
A1 Sanz, Miguel A
A1 Montesinos, Pau
K1 acute promyelocytic leukemia
K1 characteristics
K1 outcomes
K1 systematic review
K1 variant
AB It has been suggested that 1-2% of acute promyelocytic leukemia (APL) patients present variant rearrangements of retinoic acid receptor alpha (RARα) fusion gene, with the promyelocytic leukaemia zinc finger (PLZF)/RARα being the most frequent. Resistance to all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO) has been suggested in PLZF/RARα and other variant APLs. Herein, we analyze the incidence, characteristics, and outcomes of variant APLs reported to the multinational PETHEMA (Programa para el Tratamiento de Hemopatias Malignas) registry, and we perform a systematic review in order to shed light on strategies to improve management of these extremely rare diseases. Of 2895 patients with genetically confirmed APL in the PETHEMA registry, 11 had variant APL (0.4%) (9 PLZF-RARα and 2 NPM1-RARα), 9 were men, with median age of 44.6 years (3 months to 76 years), median leucocytes (WBC) 16.8 × 109/L, and frequent coagulopathy. Eight patients were treated with ATRA plus chemotherapy-based regimens, and 3 with chemotherapy-based. As compared to previous reports, complete remission and survival was slightly better in our cohort, with 73% complete remission (CR) and 73% survival despite a high relapse rate (43%). After analyzing our series and performing a comprehensive and critical review of the literature, strong recommendations on appropriate management of variant APL are not possible due to the low number and heterogeneity of patients reported so far.
SN 2072-6694
YR 2020
FD 2020-05-21
LK https://hdl.handle.net/10668/24554
UL https://hdl.handle.net/10668/24554
LA en
DS RISalud
RD Apr 17, 2025