Marker chromosomes are a significant mechanism of high-level RUNX1 gene amplification in hematologic malignancies

Moosavi, Seyed Akbar; Sanchez, Jessica; Adeyinka, Adewale

doi:10.1016/j.cancergencyto.2008.10.001

Cited by 14 publications

(8 citation statements)

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“…Amplification of RUNX1 was observed in acute myeloid leukemia (AML) [41] and tetrasomy 21 was reported as the sole chromosome abnormality in a case of recurrent AML [42]. Recently, a new subgroup of pediatric pre-B ALL has been described that is characterized by amplification of RUNX1 e.g.…”

Section: Discussionmentioning

confidence: 99%

Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients

et al. 2015

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Section: Discussionmentioning

confidence: 99%

Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients

et al. 2015

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“…17 Similar to the amplification described herein, RUNX1 amplification has also been reported in acute myeloid leukemia and myelodysplastic syndrome. 22 It is proposed that the intrachromosomal amplification of RUNX1 may FISH, fluorescence in situ hybridization.…”

Section: Discussionmentioning

confidence: 99%

Pediatric B-lymphoblastic leukemia with RUNX1 amplification: clinicopathologic study of eight cases

2011

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B-lymphoblastic leukemia (a.k.a. precursor B-cell acute lymphoblastic leukemia) is a heterogeneous disease at the clinical, morphologic, immunophenotypic and genetic levels. Recurrent genetic abnormalities in B-lymphoblastic leukemia with prognostic significance are well known and specifically delineated in the WHO 2008 classification (eg hyperdiploidy, t(9;22)(q34;q11.2); BCR-ABL1, t(12;21)(p13;q22); ETV6-RUNX1). In recent years, a subgroup of B-lymphoblastic leukemia with the recurring genetic alteration of RUNX1 amplification has emerged. This subgroup has a low incidence (2%) and an increased risk of relapse and overall worse outcome. Given these apparently distinctive clinicopathologic features, we evaluated eight cases of pediatric B-lymphoblastic leukemia with RUNX1 amplification treated on Children's Oncology Group protocols from 2000-2009. Compared with 25 consecutive B-lymphoblastic leukemia cases without RUNX1 amplification, we identified a trend toward male predominance (P-value ¼ 0.082) and low white blood cell count at presentation (P-value ¼ 0.081) in B-lymphoblastic leukemia with RUNX1 amplification. Older age at presentation was significant (median age 9.5 years, P-value ¼ 0.006). There was no significant difference in the presence of central nervous system disease, CD20 or myeloid antigen positivity on the blasts or percent circulating blasts in B-lymphoblastic leukemia with RUNX1 amplification versus other B-lymphoblastic leukemia types. Seven of eight patients (88%) are alive and free of disease at the time of last checkup (mean 50 months, range 14-116 months). Although we see a relatively good outcome in our small cohort of patients, recent findings from the Children's Oncology Group on a large set of patients suggests otherwise that these patients may have an inferior outcome compared with patients with B-lymphoblastic leukemia without RUNX1 amplification. Longterm follow-up in larger cohorts including minimal residual disease correlation is required. Modern Pathology (2011Pathology ( ) 24, 1606Pathology ( -1611 doi:10.1038/modpathol.2011; published online 5 August 2011Keywords: acute leukemia; AML1; amplification; B-lymphoblastic leukemia; precursor B-cell; RUNX1 B-lymphoblastic leukemia (a.k.a. precursor B-cell acute lymphoblastic leukemia) is a heterogeneous disease at the clinical, morphologic, immunophenotypic and genetic levels. Despite modern therapies targeted against a combined risk assessment of age, white blood cell count, central nervous system involvement, early/slow treatment response, genetics and minimal residual disease, B20% of children experience disease recurrence. Continued refinement of therapeutic protocols and risk-stratification categories are necessary for further improving B-lymphoblastic leukemia response rates. Recurrent genetic abnormalities in B-lymphoblastic leukemia with prognostic significance are well known and are specifically categorized in the WHO 2008 classification.1 These distinct genetic subgroups of B-lymphoblastic leukemia include hyperdiploidy, h...

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“…A case of MDS with t(11;21)(p14;q22) involving the RUNX1 locus with RUNX1 gene amplification (Moosavi et al, 2009) and a case of AML-M4 with t(11;21)(p13;q22) (Arber et al, 2002) were previously reported. This case is only one AML patient characterized at molecular level to date (Abe et al, 2012).…”

Section: Epidemiologymentioning

confidence: 96%

t(11;21)(p14;q22) RUNX1/KIAA1549L

Abe¹

2017

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Review on t(11;21)(p14;q22) RUNX1/KIAA1549L BL, with data on clinics, and the genes implicated. Identity ClinicsA 78-year-old man suffering from bleeding tendency and fatigue with dyspnea for one month was diagnosed as AML.Leukemic cells had large nuclei and little cytoplasm without azure granules. CytologyBlast morphology showed minimal differentiation implicating AML M1. Leukemia cells were weakly positive for myeloperoxidase and negative for esterase. PathologyBone marrow examination at diagnosis showed hypocellular marrow with 57% leukemic blasts.

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Marker chromosomes are a significant mechanism of high-level RUNX1 gene amplification in hematologic malignancies

Cited by 14 publications

References 10 publications

Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients

Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients

Pediatric B-lymphoblastic leukemia with RUNX1 amplification: clinicopathologic study of eight cases

t(11;21)(p14;q22) RUNX1/KIAA1549L

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