Insertion (21;8)(q22;q22q22): a masked t(8;21) in a patient with acute myelocytic leukemia

Onozawa, Masahiro; Fukuhara, Takashi; Nigo, Motohiko; Takeda, Akinori; Takahata, Mutsumi; Yamämoto, Yasushi; Miyake, Takayoshi; Kanda, Makoto; Maekawa, I

doi:10.1016/s0165-4608(03)00199-7

Cited by 7 publications

(4 citation statements)

References 13 publications

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“…Recent studies have confirmed that spatial proximity of heterogenous chromosomes is more likely to cause chromosomal translocations, and the translocation-prone chromosomes are frequently located towards the nuclear center [11,12]. Abnormal karyotypes of AML-M2 have been largely studied using traditional cytogenetic analysis, reverse transcription-polymerase chain reaction (RT-PCR), and fluorescent in situ hybridization (FISH) techniques [13][14][15]. However, the three-dimensional (3D) spatial positions of chromosome 21 and chromosome 8 from AML-M2 patients are still rarely researched.…”

Section: Introductionmentioning

confidence: 99%

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A new classification of interphase nuclei based on spatial organizations of chromosome 8 and 21 for t(8;21) (q22;q22) acute myeloid leukemia by three-dimensional fluorescence in situ hybridization

et al. 2015

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Section: Introductionmentioning

confidence: 99%

“…However, the three-dimensional (3D) spatial positions of chromosome 21 and chromosome 8 from AML-M2 patients are still rarely researched. [15]/46,XY [5] 200 40…”

Section: Introductionmentioning

confidence: 99%

A new classification of interphase nuclei based on spatial organizations of chromosome 8 and 21 for t(8;21) (q22;q22) acute myeloid leukemia by three-dimensional fluorescence in situ hybridization

et al. 2015

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“…Notably, the t(8;21)(q22;q22) is a common chromosomal change in diploid AML accompanied by loss of sex chromosomes, which correlates with a favorable prognosis 24–26. However, the incidence of t(8;21) is rare in near-tetraploid patients t(8;21)(q22;q22) 24,25,27. Herein, we have reported three novel cases (Cases 5, 6, and 7) of near-tetraploidy AML with double t(8;21)(q22;q22).…”

Section: Discussionmentioning

confidence: 99%

<p>Identification of chromosomal abnormalities and genomic features in near-triploidy/tetraploidy-acute leukemia by fluorescence in situ hybridization</p>

Yang¹,

Jiang²,

Zhao³

et al. 2019

CMAR

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Background Near-triploidy/tetraploidy is rarely found in acute leukemia. Only limited data are available to characterize this condition, and it remains largely unknown. Patients and methods In our study, we performed karyotype analysis on 1,031 patients diagnosed with acute leukemia from 2006 to 2018. A total of 10 patients of near-triploidy/tetraploidy karyotype were enrolled. Two cases of near-triploidy (66–79 chromosomes) and eight cases of near-tetraploidy (84–100 chromosomes) were identified. Bone marrow samples of these 10 patients were analyzed by fluorescence in situ hybridization with 19 commercially available probes that detected a small portion of gene alterations and large regions of chromosome amplifications. Results Of the six patients with acute myelocytic leukemia, we detected three cases of double t(8;21)(q22;q22) that have not been previously reported, and one of them demonstrated ins(21;8) (q22;q24q22). We also describe a novel pediatric case carrying double t(15;17)(q22;q21) and receiving targeted treatment with all-trans retinoic acid therapy. To date, this case has responded well to the regimen and has shown continuous complete remission. All patients received chemotherapy. One of them received allogeneic hematopoietic stem cell transplant (HSCT) and survived for 22 months. Eight of the 10 patients died, and the median overall survival was 11 months. Conclusion Using fluorescence in situ hybridization, we identified the distinct complex karyotype of near-triploidy/tetraploidy and provided further prognostic information. Tetraploidy acute promyelocytic leukemia had favorable prognosis; thus, HSCT was not necessary. The case of insertion t(21;8)(q22;q24q22) in tetraploidy responded poorly to chemotherapy and achieved molecular remission with difficultly. Data from patients in this group indicated that near-triploidy/tetraploidy acute leukemia has poor prognosis and new therapy is urgently needed.

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“…The frequency of this kind of rearrangement, documented or presumed, among AML patients with the 5ЈRUNX1/ 3ЈCBFA2T1 fusion gene ranges from 1% to 8.5% (Grimwade et al, 2002;Gamerdinger et al, 2003), but it must be considered that these cryptic anomalies could be overlooked by conventional cytogenetics. To date, seven cases showing ins(21;8) and four cases with ins(8;21) have been described (Kazama et al, 1996;Harrison et al, 1999;Taviaux et al, 1999;Yamazaki et al, 2000;Urioste et al, 2002;Gamerdinger et al, 2003;Onozawa et al, 2003; Table 1). However, a detailed breakpoint characterization of the insertion event has never been attempted.…”

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Insertions generating the 5′RUNX1/3′CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints

Specchia

Albano

Anelli

et al. 2004

Genes Chromosomes & Cancer

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Translocation t(8;21)(q22;q22) is a common karyotypic abnormality detected in about 15% of acute myeloid leukemia (AML) cases. The rearrangement results in fusion of the RUNX1 (also known as AML1) and CBFA2T1 (also known as ETO) genes, generating a 5'RUNX1/3'CBFA2T1 transcriptionally active fusion gene on derivative chromosome 8, but some cases with ins(21;8) and ins(8;21) have been observed. However, a detailed breakpoint characterization of the insertion events has never been reported. In the present article, we describe six insertion events among 82 (7.3%) AML cases characterized by the RUNX1/CBFA2T1 fusion. Using FISH experiments with appropriate bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) probes, we were able to perform a detailed molecular cytogenetic characterization of one case with ins(8;21) and five with ins(21;8). Our analysis revealed that insertions generating the 5'RUNX1/3'CBFA2T1 gene showed variable breakpoints; the size of the inserted elements ranged from 2.4 to 44 Mb.

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Insertion (21;8)(q22;q22q22): a masked t(8;21) in a patient with acute myelocytic leukemia

Abstract: could not be determined without molecular analysis. This abnormality is considered a masked type of translocation 8;21.-2 -

Cited by 7 publications

References 13 publications

A new classification of interphase nuclei based on spatial organizations of chromosome 8 and 21 for t(8;21) (q22;q22) acute myeloid leukemia by three-dimensional fluorescence in situ hybridization

A new classification of interphase nuclei based on spatial organizations of chromosome 8 and 21 for t(8;21) (q22;q22) acute myeloid leukemia by three-dimensional fluorescence in situ hybridization

<p>Identification of chromosomal abnormalities and genomic features in near-triploidy/tetraploidy-acute leukemia by fluorescence in situ hybridization</p>

Insertions generating the 5′RUNX1/3′CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints

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