Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature

Ayres-Silva, Jackline de Paula; Bonamino, Martín; Gouveia, Maria Emmerick; Monte-Mór, Bárbara; Coutinho, Diego F.; Daumas, Adelmo; Solza, Cristiana; Braggio, Esteban; Zalcberg, Ilana

doi:10.3389/fonc.2018.00032

Cited by 9 publications

(6 citation statements)

References 42 publications

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“…ASXL1 and ASXL2 mutations occur occasionally (approximately 10%) and frequently (10–30%) in AML with t (8;21)/ RUNX1-RUNX1T1 , respectively [ 12 , 48 – 50 ]. However, ASXL2 alterations occur much less frequently in other myeloid malignancies, for example t (8;21)-negative de novo and secondary AML (1–3.5%) [ 51 – 53 ], neutrophilic leukemias of ambiguous diagnosis (CNL, aCML, MPN-unclassified, MDS/MPN, and MDS/MPN-U) (3.2%) [ 36 ], and CHIP (< 0.5%) [ 37 ].…”

Section: Asxl1 and Asxl2 Mutations In Mye...mentioning

confidence: 99%

ASXL1/2 mutations and myeloid malignancies

2022

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Myeloid malignancies develop through the accumulation of genetic and epigenetic alterations that dysregulate hematopoietic stem cell (HSC) self-renewal, stimulate HSC proliferation and result in differentiation defects. The polycomb group (PcG) and trithorax group (TrxG) of epigenetic regulators act antagonistically to regulate the expression of genes key to stem cell functions. The genes encoding these proteins, and the proteins that interact with them or affect their occupancy at chromatin, are frequently mutated in myeloid malignancies. PcG and TrxG proteins are regulated by Enhancers of Trithorax and Polycomb (ETP) proteins. ASXL1 and ASXL2 are ETP proteins that assemble chromatin modification complexes and transcription factors. ASXL1 mutations frequently occur in myeloid malignancies and are associated with a poor prognosis, whereas ASXL2 mutations frequently occur in AML with t(8;21)/RUNX1-RUNX1T1 and less frequently in other subtypes of myeloid malignancies. Herein, we review the role of ASXL1 and ASXL2 in normal and malignant hematopoiesis by summarizing the findings of mouse model systems and discussing their underlying molecular mechanisms.

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Section: Asxl1 and Asxl2 Mutations In Mye...mentioning

confidence: 99%

ASXL1/2 mutations and myeloid malignancies

2022

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“…We also detected Y chromosome deletion in an elderly male patient with AML transformed by MDS, and the abnormal karyotype was: 43,X,t(5;19)(q21;q13),7q+,-7,-12,-20,-Y,+marker. [7]/44,XY,5q-,7q+,-12,-18,-20,+marker1,+marker2. [13].…”

Section: Discussionmentioning

confidence: 99%

“…The recognition and understanding of chromosomal abnormalities for the diagnosis and treatment of AML patients is of great signi cance [6]. Chromosomal abnormalities are likely to be associated with disease progression in S-AML [7]. Some major clinical features, such as WBC and LDH were signi cant additive features for OS [8].…”

Section: Introductionmentioning

confidence: 99%

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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“…The recognition and understanding of chromosomal aberrations for the diagnosis and treatment of AML patients is of great significance ( Liu et al, 2020 ). Chromosomal aberrations are likely to be associated with disease progression in S-AML ( Ayres-Silva et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Chromosomal aberrations and prognostic analysis of secondary acute myeloid leukemia—a retrospective study

Song

Zhang

Yang

et al. 2023

PeerJ

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Background Secondary acute myeloid leukemia (S-AML) patients generally have a poor prognosis, but the chromosomal aberrations of S-AML have been rarely reported. We aimed to explore the chromosomal aberrations and clinical significance in patients with S-AML. Patients and methods The clinical characteristics and 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 (i.e., at S-AML diagnosis). Results The study included 26 S-AML patients (13 males and 13 females), with a median age of 63 years (range, 20–77 years). They transformed from various hematologic malignancies or solid tumors; most of them were secondary to myelodysplastic syndrome (MDS). About 62% of the S-AML patients showed chromosomal aberrations. The serum lactate dehydrogenase (LDH) level in S-AML patients with abnormal karyotype was higher than those with normal karyotype. Apart from the differences in treatment regimens, S-AML patients with chromosomal aberrations had shorter OS (P < 0.05). Conclusion S-AML patients with abnormal karyotype have higher LDH levels and shorter OS than normal karyotype patients, and the OS of hypodiploidy was much shorter than hyperdiploid.

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Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature

Cited by 9 publications

References 42 publications

ASXL1/2 mutations and myeloid malignancies

ASXL1/2 mutations and myeloid malignancies

Chromosomal Characteristics and Prognostic Analysis of Secondary Acute Myeloid Leukemia

Chromosomal aberrations and prognostic analysis of secondary acute myeloid leukemia—a retrospective study

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