The prognostic implications of tetraploidy/near-Tetraploidy in acute myeloid leukemia: a case series and systematic review of the literature

Xie, John; Nachabe, Adeem; Hathaway, Lindsey J.; Farah, Bachir; Berbari, Bachir; Li, Yuwen; Brown, Theresa C.; Schmid, Janet L.; Socola, Francisco; Saba, Nakhle S.; Safah, Hana

doi:10.1080/10428194.2020.1817435

Cited by 6 publications

(2 citation statements)

References 37 publications

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“…On D-FISH analysis, these demonstrated a single fusion signal, suggesting that they may arise from insertional events, as described in Grimwade et al 18 A minor subset of cases (0.5%) presented with a near-tetraploid stemline clone (Group E). While tetraploid/near-tetraploid AML has been associated with poorer outcomes, 23 this deleterious impact has not been reproduced in APL, yet the scarceness of this entity precludes establishment of robust associations. In a review including 15 cases with tetraploid APL, Dalia et al identified that a complete response was achieved in 13 cases with ATRA, suggesting that the PML::RARA fusion remains the primary prognostic and actionable driver alteration in this setting.…”

Section: Discussionmentioning

confidence: 99%

Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies

Gagnon

Berg

Meyer

et al. 2022

Genes Chromosomes & Cancer

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The diagnosis of acute promyelocytic leukemia (APL) relies on the identification of PML::RARA fusion. While the majority of APL cases harbor a typical t(15;17)(q24;q21), atypical genetic mechanisms leading to the oncogenic PML::RARA fusion have been reported yet their frequency and scope remain poorly characterized. We assessed the genetic findings of 831 cases with APL investigated with concurrent chromosome banding analysis and dual‐color dual‐fusion fluorescence in situ hybridization (D‐FISH) analysis at our institution over an 18.5‐year timeframe. Seven hundred twenty‐three (87%) cases had a typical balanced t(15;17) with both testing modalities. Atypical karyotypic results including complex translocations, unbalanced rearrangements and insertional events occurred in 50 (6%) cases, while 6 (0.7%) cases were cryptic by conventional chromosome studies despite PML::RARA fusion by D‐FISH evaluation. Atypical FISH patterns were observed in 48 (6%) cases despite apparently balanced t(15;17) on chromosome banding analysis. Two hundred fifty (30%) cases displayed additional chromosome abnormalities of which trisomy/tetrasomy 8 (37%), del(7q)/add(7q) (12%), and del(9q) (7%) were most frequent. Complex and very complex karyotypes were observed in 81 (10%) and 34 (4%) cases, respectively. In addition, 4 (0.5%) cases presented as an apparently doubled, near‐tetraploid stemline clone. This report provides the largest appraisal of cytogenetic findings in APL with conventional chromosome and PML::RARA D‐FISH analysis. By characterizing the frequency and breadth of typical and atypical results through the lens of these cytogenetic testing modalities, this study serves as a pragmatic source of information for those involved in the investigation of APL in both the clinical and research laboratory settings.

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Section: Discussionmentioning

confidence: 99%

Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies

Gagnon

Berg

Meyer

et al. 2022

Genes Chromosomes & Cancer

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“…Consequently, the allotetraploidy of Xenopus laevis genome has become an important model in which to study polyploidy and aneuploidy formation. Tetraploidy and aneuploidy have been reported as having associations with various kinds of diseases in humans, such as cancers, Parkinson’s, aging disorders, Alzheimer’s, and neuromuscular developmental disorders [ 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 ].…”

Section: Introductionmentioning

confidence: 99%

Ventx Family and Its Functional Similarities with Nanog: Involvement in Embryonic Development and Cancer Progression

Kumar

Kim

2022

IJMS

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The Ventx family is one of the subfamilies of the ANTP (antennapedia) superfamily and belongs to the NK-like (NKL) subclass. Ventx is a homeobox transcription factor and has a DNA-interacting domain that is evolutionarily conserved throughout vertebrates. It has been extensively studied in Xenopus, zebrafish, and humans. The Ventx family contains transcriptional repressors widely involved in embryonic development and tumorigenesis in vertebrates. Several studies have documented that the Ventx family inhibited dorsal mesodermal formation, neural induction, and head formation in Xenopus and zebrafish. Moreover, Ventx2.2 showed functional similarities to Nanog and Barx1, leading to pluripotency and neural-crest migration in vertebrates. Among them, Ventx protein is an orthologue of the Ventx family in humans. Studies have demonstrated that human Ventx was strongly associated with myeloid-cell differentiation and acute myeloid leukemia. The therapeutic potential of Ventx family inhibition in combating cancer progression in humans is discussed. Additionally, we briefly discuss genome evolution, gene duplication, pseudo-allotetraploidy, and the homeobox family in Xenopus.

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Long‐term survival of an infant with complete tetraploidy: A case report

Okamura,

Yoshimoto,

Morimoto

et al. 2024

American J of Med Genetics Pt A

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The prognostic implications of tetraploidy/near-Tetraploidy in acute myeloid leukemia: a case series and systematic review of the literature

Cited by 6 publications

References 37 publications

Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies

Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies

Ventx Family and Its Functional Similarities with Nanog: Involvement in Embryonic Development and Cancer Progression

Long‐term survival of an infant with complete tetraploidy: A case report

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