A new four-way variant t(5;17;15;20)(q33;q12;q22;q11.2) in acute promyelocytic leukemia

Yamanouchi, Jun; Hato, Takaaki; Niiya, Toshiyuki; Miyoshi, Ken; Azuma, Taichi; Sakai, Ikuya; Yasukawa, Masaki

doi:10.1007/s12185-011-0929-1

Cited by 5 publications

(4 citation statements)

References 17 publications

(23 reference statements)

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“…Compared with the other atypical transcripts, these patients presented features similar to classic APL: a high percentage of coagulopathy (71%), good response to ATRA, ATO, and/or chemotherapy, discrete incidence of differentiation syndrome (29%), and an excellent prognosis (patients alive at a mean follow-up of 23.8 months; range, 3–60 months). This suggests that karyotypic complexity does not affect the characteristics and outcome of ASPL with typical rearrangements ( 94 – 100 , 133 ).…”

Section: Pathogenesis Characteristics and Management Of Apl Variantsmentioning

confidence: 95%

Atypical Rearrangements in APL-Like Acute Myeloid Leukemias: Molecular Characterization and Prognosis

et al. 2022

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Acute promyelocytic leukemia (APL) accounts for 10–15% of newly diagnosed acute myeloid leukemias (AML) and is typically caused by the fusion of promyelocytic leukemia with retinoic acid receptor α (RARA) gene. The prognosis is excellent, thanks to the all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) combination therapy. A small percentage of APLs (around 2%) is caused by atypical transcripts, most of which involve RARA or other members of retinoic acid receptors (RARB or RARG). The diagnosis of these forms is difficult, and clinical management is still a challenge for the physician due to variable response rates to ATRA and ATO. Herein we review variant APL cases reported in literature, including genetic landscape, incidence of coagulopathy and differentiation syndrome, frequent causes of morbidity and mortality in these patients, sensitivity to ATRA, ATO, and chemotherapy, and outcome. We also focus on non-RAR rearrangements, complex rearrangements (involving more than two chromosomes), and NPM1-mutated AML, an entity that can, in some cases, morphologically mimic APL.

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Section: Pathogenesis Characteristics and Management Of Apl Variantsmentioning

confidence: 95%

Atypical Rearrangements in APL-Like Acute Myeloid Leukemias: Molecular Characterization and Prognosis

et al. 2022

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“…Diagnosis of ZBTB16/RARα t(11;17) APL can be difficult. This translocation is more commonly associated with CD56 expression ( 104 ). Patients had an increased number of hypogranular pelgeroid neutrophils and a more regular nucleus compared with the bilobed nucleus typically found in APL ( 97 ).…”

Section: Complex Karyotypementioning

confidence: 99%

Early mortality in acute promyelocytic leukemia: Potential predictors (Review)

et al. 2018

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Acute promyelocytic leukemia (APL) is a rare leukemia characterized by the balanced reciprocal translocation between the promyelocytic leukemia gene on chromosome 15 and the retinoic acid receptor α (RARα) gene on chromosome 17, and accounts for 10–15% of newly diagnosed acute myeloid leukemia each year. The combined use of all-trans retinoic acid and arsenic trioxide (ATO) as primary therapy has markedly improved the survival rate of patients with APL. Mortality in the first 30 days following therapy remains a major contribution to treatment failure. In the present study, published data was reviewed with a focus on the factors associated with early mortality. When treated with ATO as a primary treatment, the fms-like tyrosine kinase-internal tandem deletion has no impact on early mortality. Low lymphoid enhancer binding factor-1 expression may be a reliable marker for early mortality and the target of therapy if it could be proven by further studies. Cluster of differentiation (CD)56+ and CD34+/CD2+ may be candidates to select high-risk patients. The risk of early mortality in APL still cannot be predicted via the cell surface makers, despite multiple studies on their prognostic significance. Typically, a complex translocation did not alter the survival rate in patients with APL; however, if an abnormal karyotype [e.g., Ide(17), ZBTB16/RARα and STAT5B/RARα] appeared singularly or as part of a complex mutation, there is a high possibility of early mortality if clinicians are unable to identify or monitor it.

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“…Complex translocations are defined as rearrangements involving at least 3 chromosomes and account for 1-2% of all APL cases [ 1 ]. Many variant breakpoints have been described previously [ 2 – 4 ]. A translocation involving 12q13 in APL has been described once previously, in a patient with an eight-way variant translocation [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA

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Rao

et al. 2015

Case Reports in Hematology

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Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. Here, we present a case of a 50-year-old man who presented with signs and symptoms of acute leukemia with concern for APL. Therapy was immediately initiated with all-trans retinoic acid. The morphology of his leukemic blasts was consistent with the hypogranular variant of APL. Subsequent FISH and cytogenetic analysis revealed a unique translocation involving five chromosomal regions: 9q34, 17q21, 15q24, 12q13, and 15q26.1. Molecular testing demonstrated PML/RARA fusion transcripts. Treatment with conventional chemotherapy was added and he went into a complete remission. Given his elevated white blood cell count at presentation, intrathecal chemotherapy for central nervous system prophylaxis was also given. The patient remains on maintenance therapy and remains in remission. This is the first such report of a 5-way chromosomal translocation leading to APL. Similar to APL with chromosomal translocations other than classical t(15;17) which result in the typical PML-RARA fusion, our patient responded promptly to an ATRA-containing regimen and remains in complete remission.

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A new four-way variant t(5;17;15;20)(q33;q12;q22;q11.2) in acute promyelocytic leukemia

Cited by 5 publications

References 17 publications

Atypical Rearrangements in APL-Like Acute Myeloid Leukemias: Molecular Characterization and Prognosis

Atypical Rearrangements in APL-Like Acute Myeloid Leukemias: Molecular Characterization and Prognosis

Early mortality in acute promyelocytic leukemia: Potential predictors (Review)

High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA

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