Duplication and triplication of der(21)t(8;21)(q22;q22) in acute myeloid leukemia

Mikulasovich, Michael; LeBlanc, Amanda J.; Scalise, Angela; Manwani, Deepa; Keyzner, Alla; Najfeld, Vesna

doi:10.1016/j.cancergencyto.2008.10.004

Cited by 6 publications

(5 citation statements)

References 33 publications

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“…Both metaphase and interphase fluorescence in situ hybridization (FISH) analyses confirmed a RUNX1-RUNX1T1 fusion signal on the derivative chromosome 8 (fig. 2) [14]. RUNX1-RUNX1T1 fusiontranscripts were also confirmed using the Hemavision Multiplex RT-PCR System (DNA Technology A/S, Aarhus, Denmark) [15].…”

Section: Case Reportmentioning

confidence: 99%

Acute Myeloid Leukemia with a <i>RUNX1-RUNX1T1</i> t(1;21;8)(q21;q22;q22) Novel Variant: A Case Report and Review of the Literature

et al. 2011

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Variants of t(8;21)(q22;q22) account for approximately 3% of all t(8;21) in acute myeloid leukemia (AML). We report a 63-year-old female patient with AML, who showed a 3-way novel variant of t(8;21), t(1;21;8)(q21;q22;q22). She presented with gastric discomfort and splenomegaly, and her complete blood count was: white blood cell count 7.96 × 10⁹/l, with 7% blasts; hemoglobin 8.3 g/dl, and platelets 66 × 10⁹/l. Her bone marrow showed increased blasts (32.5%) with a basophilic cytoplasm, salmon-pink granules and Auer rods. Cytogenetic analysis revealed a karyotype of 46,XX,t(1;21;8)(q21;q22;q22), and fluorescence in situ hybridization confirmed a RUNX1-RUNX1T1 fusion signal on the derivative chromosome 8. After induction chemotherapy, the patient achieved complete remission and has been stable for 6 months. To the best of our knowledge, this is the first report on the novel variant of t(8;21) involving the breakpoint 1q21 and the third case with a translocation among chromosomes 1, 21 and 8. Although the clinical relevance of variant t(8;21) is still unclear, a review of 24 such cases in the literature does not imply a poorer prognosis of variant t(8;21) than of the classic t(8;21).

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Section: Case Reportmentioning

confidence: 99%

Acute Myeloid Leukemia with a <i>RUNX1-RUNX1T1</i> t(1;21;8)(q21;q22;q22) Novel Variant: A Case Report and Review of the Literature

et al. 2011

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“…Trisomy 8 was observed in 8 (10%) cases with inv(16) and 6 (5%) cases with t(8;21). Gain of the long arm of chromosome 8 (+8q) was seen is 2 additional cases with inv(16) (2 other cases with t(8;21) had +8q related to the rarely described duplication of the derivate chromosome der(21) t(8;21) [ 14 ]; Supplementary Figure 3 ). Del(7q) was found in 20 (10%) patients, including 10 (9%) cases with t(8;21) and 10 (12%) cases with inv(16).…”

Section: Resultsmentioning

confidence: 99%

SNP-array lesions in core binding factor acute myeloid leukemia

et al. 2018

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Acute myeloid leukemia (AML) with t(8;21) and inv(16), together referred as core binding factor (CBF)-AML, are recognized as unique entities. Both rearrangements share a common pathophysiology, the disruption of the CBF, and a relatively good prognosis. Experiments have demonstrated that CBF rearrangements were insufficient to induce leukemia, implying the existence of cooperating events. To explore these aberrations, we performed single nucleotide polymorphism (SNP)-array in a well-annotated cohort of 198 patients with CBF-AML. Excluding breakpoint-associated lesions, the most frequent events included loss of a sex chromosome (53%), deletions at 9q21 (12%) and 7q36 (9%) in patients with t(8;21) compared with trisomy 22 (13%), trisomy 8 (10%) and 7q36 deletions (12%) in patients with inv(16). SNP-array revealed novel recurrent genetic alterations likely to be involved in CBF-AML leukemogenesis. ZBTB7A mutations (20% of t(8;21)-AML) were shown to be a target of copy-neutral losses of heterozygosity (CN-LOH) at chromosome 19p. FOXP1 focal deletions were identified in 5% of inv(16)-AML while sequence analysis revealed that 2% carried FOXP1 truncating mutations. Finally, CCDC26 disruption was found in both subtypes (4.5% of the whole cohort) and possibly highlighted a new lesion associated with aberrant tyrosine kinase signaling in this particular subtype of leukemia.

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“…Trisomy 4 with t(8;21) shows unfavourable clinical outcome mostly due to concomitant KIT mutation which roots the adverse effects of the disease [2]. According to literature, KIT mutations occurs solely at a frequency of 32% while 10% show t(8;21) and/or +4 [5].…”

Section: Discussionmentioning

confidence: 99%

“…Although the exact mechanism of cytogenetic evolution is not completely understood, it must be disease-specific. It is believed that the t(8;21) initiates the disease, followed by activation of the KIT pathway and increased gene-dosage of aberrant KIT due to trisomy 4 which promotes disease progression [5].…”

Section: Discussionmentioning

confidence: 99%

Additional Cytogenetic Aberrations Indicative of Poor Prognosis in AML with RUNX1/RUNX1T1 Rearrangement: Karyotype a Chromosomal Blueprint

Shetty¹,

Talker²,

Patil³

et al. 2021

annhematoloncol

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AML is a highly heterogeneous disease with t(8;21)(q22;q22) as a frequently occurring aberration. While most studies show these patients to demonstrate a good response to standard chemotherapy, a lot of Indian and Western studies suggest otherwise. Trisomy 4 is a rare but a specific chromosomal abnormality in certain subtypes of AML. Although the significance of t(8;21) with trisomy 4 in AML remains uncertain, patients with this abnormality are typically associated with poor prognosis. Similarly, KIT mutations are also common with t(8;21) AML suggesting poorer outcomes. We report a case of AML with duplicated derivative 21 due to t(8;21), trisomy 4 and KIT mutation at baseline and an additional t(2;12) and ASXL2 mutation at relapse.

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Duplication and triplication of der(21)t(8;21)(q22;q22) in acute myeloid leukemia

Cited by 6 publications

References 33 publications

Acute Myeloid Leukemia with a <i>RUNX1-RUNX1T1</i> t(1;21;8)(q21;q22;q22) Novel Variant: A Case Report and Review of the Literature

Acute Myeloid Leukemia with a <i>RUNX1-RUNX1T1</i> t(1;21;8)(q21;q22;q22) Novel Variant: A Case Report and Review of the Literature

SNP-array lesions in core binding factor acute myeloid leukemia

Additional Cytogenetic Aberrations Indicative of Poor Prognosis in AML with RUNX1/RUNX1T1 Rearrangement: Karyotype a Chromosomal Blueprint

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