Genotypic and Phenotypic Characteristics of Acute Promyelocytic Leukemia Translocation Variants

Mannan, Abdul; Muhsen, Ibrahim N.; Barragán, Eva; Sanz, Miguel Á.; Mohty, Mohamad; Hashmi, Shahrukh K.; Aljurf, Mahmoud

doi:10.1016/j.hemonc.2020.05.007

Cited by 31 publications

(20 citation statements)

References 106 publications

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“…Abnormal changes of autosomal karyotypes were more common in S-AML patients and were closely related to survival prognosis. Studies have shown a more incidence of abnormalities on chromosomes 5 and 7 in patients with S-AML [19,20]. In our study, 62.5% (10/16) abnormal chromosome karyotypes had abnormalities on chromosomes 5 and 7.…”

Section: Discussionsupporting

confidence: 57%

Chromosomal Characteristics and Prognostic Analysis of Secondary Acute Myeloid Leukemia

Song¹,

Zhang²,

Yang³

et al. 2021

Preprint

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BackgroundSecondary Acute Myeloid Leukemia (S-AML) patients generally have a poor prognosis, and the chromosomal karyotype of S-AML have been rarely reported in the published literature. We aimed to explore the chromosomal karyotype and its clinical significance in patients with S-AML.MethodsClinical characteristics and chromosome karyotypes of 26 patients with S-AML were retrospectively analyzed. The overall survival (OS) was measured from the time of the patients’ transition to AML (which means the time of S-AML diagnosis) .ResultsAmong the 26 S-AML patients, there were 13 males and 13 females, with a median age of 63 years old (range, 20-77 years old). All of them were secondary to a variety of hematologic malignancies or solid tumors, and most of them were secondary to myelodysplastic syndrome (MDS). About 62% of the S-AML patients showed chromosome abnormalities. The level of serum lactate dehydrogenase (LDH) in S-AML patients with abnormal chromosome karyotype was higher than those with normal chromosome karyotype. Apart from the differences in treatment regimens, S-AML patients with chromosomal karyotype abnormalities had shorter OS (P<0.05). ConclusionsS-AML patients with abnormal chromosomal karyotype have higher LDH and shorter OS than normal chromosomal karyotype, and the OS of hypodiploidy was much shorter than hyperdiploid.

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Section: Discussionsupporting

confidence: 57%

Chromosomal Characteristics and Prognostic Analysis of Secondary Acute Myeloid Leukemia

Song¹,

Zhang²,

Yang³

et al. 2021

Preprint

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“…APL constitutes a subgroup of AML (AML-M3) associated with the balanced reciprocal chromosome rearrangement of t(15;17)(q24;q21) that generates the fusion of PML and the RARA genes [ 80 , 81 ]. Both ATRA and ATO are effective agents for curing t(15;17) chromosomally translocated APL [ 82 ].…”

Section: Introductionmentioning

confidence: 99%

The dual role of autophagy in acute myeloid leukemia

et al. 2022

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Acute myeloid leukemia (AML) is a severe hematologic malignancy prevalent in older patients, and the identification of potential therapeutic targets for AML is problematic. Autophagy is a lysosome-dependent catabolic pathway involved in the tumorigenesis and/or treatment of various cancers. Mounting evidence has suggested that autophagy plays a critical role in the initiation and progression of AML and anticancer responses. In this review, we describe recent updates on the multifaceted functions of autophagy linking to genetic alterations of AML. We also summarize the latest evidence for autophagy-related genes as potential prognostic predictors and drivers of AML tumorigenesis. We then discuss the crosstalk between autophagy and tumor cell metabolism into the impact on both AML progression and anti-leukemic treatment. Moreover, a series of autophagy regulators, i.e., the inhibitors and activators, are described as potential therapeutics for AML. Finally, we describe the translation of autophagy-modulating therapeutics into clinical practice. Autophagy in AML is a double-edged sword, necessitating a deeper understanding of how autophagy influences dual functions in AML tumorigenesis and anti-leukemic responses.

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“…Acute promyelocytic leukaemia (APL) results from reciprocal translocation between chromosomes 15 and 17, t(15;17) (q24;q21) giving rise to chimeric fusion of oncogene; the promyelocytic leukaemia ( PML ) gene and cellular differentiation protein; and the retinoid acid receptor alpha ( RARA ) gene resulting in PML‐RARA fusion gene [ 3 ]. Normal PML is a tumour suppressor gene that is transcribed to PML tumour suppressor protein in the cells [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Rare additional chromosomal abnormalities in acute promyelocytic leukaemia resulting in rapidly fatal disease: report of a case

Haidary

Noor²,

Noor

et al. 2021

eJHaem

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Background: Acute promyelocytic leukaemia results from reciprocal translocation between the long arms of chromosomes 15 and 17. This translocation leads to the formation of chimeric gene, which is both the diagnostic marker as well as the therapeutic target of the disease. Additional chromosomal abnormalities are randomly encountered either at diagnosis or during therapy. Here, we present a case of acute promyelocytic leukaemia that had a rare cytogenetic profile at diagnosis. Case presentation:Our patient was a 14-year-old boy, who presented with characteristic clinical and morphological features of acute promyelocytic leukaemia. Karyotypic analysis revealed trisomy of chromosome 8 with deletion of 9p in addition to t(15;17).The patient passed away within the first 8 h of presentation while receiving conventional chemotherapy and haemodynamic resuscitation. Conclusion:Our patient presented with a rare cytogenetic profile and rapidly progressive disease. According to our extensive literature search, this was the first case of acute promyelocytic leukaemia having pathognomonic t(15;17) along with trisomy 8 and 9q deletion.

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Genotypic and Phenotypic Characteristics of Acute Promyelocytic Leukemia Translocation Variants

Cited by 31 publications

References 106 publications

Chromosomal Characteristics and Prognostic Analysis of Secondary Acute Myeloid Leukemia

Chromosomal Characteristics and Prognostic Analysis of Secondary Acute Myeloid Leukemia

The dual role of autophagy in acute myeloid leukemia

Rare additional chromosomal abnormalities in acute promyelocytic leukaemia resulting in rapidly fatal disease: report of a case

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