The ZBTB16-RARA fusion gene, resulting from the reciprocal translocation between ZBTB16 on chromosome 11 and RARA genes on chromosome 17 [t(11;17)(q23;q21)], is rarely observed in acute myeloid leukemia (AML), and accounts for about 1% of retinoic acid receptor-α (RARA) rearrangements. AML with this rare translocation shows unusual bone marrow (BM) morphology, with intermediate aspects between acute promyelocytic leukemia (APL) and AML with maturation. Patients may have a high incidence of disseminated intravascular coagulation at diagnosis, are poorly responsive to all-trans retinoic acid (ATRA) and arsenic tryoxyde, and are reported to have an overall poor prognosis.

Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia

Della Porta, Matteo;
2021-01-01

Abstract

The ZBTB16-RARA fusion gene, resulting from the reciprocal translocation between ZBTB16 on chromosome 11 and RARA genes on chromosome 17 [t(11;17)(q23;q21)], is rarely observed in acute myeloid leukemia (AML), and accounts for about 1% of retinoic acid receptor-α (RARA) rearrangements. AML with this rare translocation shows unusual bone marrow (BM) morphology, with intermediate aspects between acute promyelocytic leukemia (APL) and AML with maturation. Patients may have a high incidence of disseminated intravascular coagulation at diagnosis, are poorly responsive to all-trans retinoic acid (ATRA) and arsenic tryoxyde, and are reported to have an overall poor prognosis.
2021
AML
ARID1A
NGS
ZBTB16-RARA
Adult
Aged
Aged, 80 and over
Antineoplastic Agents
Arsenic Trioxide
Bone Marrow
Child
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
DNA Helicases
DNA-Binding Proteins
Disseminated Intravascular Coagulation
Female
High-Throughput Nucleotide Sequencing
Humans
Leukemia, Myeloid, Acute
Leukemia, Promyelocytic, Acute
Male
Middle Aged
Nuclear Proteins
Oncogene Proteins, Fusion
Prognosis
Promyelocytic Leukemia Zinc Finger Protein
Retinoic Acid Receptor alpha
Transcription Factors
Tretinoin
Translocation, Genetic
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11699/70704
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