Upregulation of MEL1 and FLJ42875 genes by position effect resulting from a t(1;2)(p36;p21) occurring during evolution of chronic myelomonocytic leukemia

Storlazzi, Clelia Tiziana; Albano, Francesco; Guastadisegni, Maria Corsignano; Impera, Luciana; Mühlematter, Dominique; Meyer-Monard, Sandrine; Wuillemin, Walter A.; Rocchi, Mariano; Jotterand, Martine

doi:10.1016/j.bcmd.2007.11.004

Cited by 10 publications

(22 citation statements)

References 6 publications

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“…We also observed unique cases with abnormalities of the PRDM16/MEL or ERG oncogenes, as occasionally reported in non-FA patients. [27][28][29]47,48 Combinations of the recurrent chromosomal or molecular abnormalities were frequent, with no abnormality being clearly mutually exclusive of the others (Figure 4; supplemental Table 1). Collectively, these data suggest avenues of multistep oncogenesis in the BM progression of FA, in which 1qϩ would be a central, possibly initiating event, that can be found in the aplastic form of the disease, and 3qϩ, Ϫ7/7q, and RUNX1 abnormalities, among others, would lead to high-grade MDS or AML.…”

Section: Discussionmentioning

confidence: 99%

“…Such abnormalities have been previously reported in rare non-FA MDS, AML, or blast crisis of myeloproliferative disorder. [27][28][29] Of note, the karyotype detected no chromosomal abnormality in patient EGF068, the ERG amplification as evidenced by array-CGH being cryptic and the sole abnormality found in this patient. Figure 4).…”

Section: Recurrent Genomic Lesions In Fa Mds/aml E165mentioning

confidence: 95%

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Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

Quentin

Cuccuini

Ceccaldi

et al. 2011

Blood

161

147

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Fanconi anemia (FA) is a genetic condition associated with bone marrow (BM) failure, myelodysplasia (MDS), and acute myeloid leukemia (AML). We studied 57 FA patients with hypoplastic or aplastic anemia (n ‫؍‬ 20), MDS (n ‫؍‬ 18), AML (n ‫؍‬ 11), or no BM abnormality (n ‫؍‬ 8). BM samples were analyzed by karyotype, high-density DNA arrays with respect to paired fibroblasts, and by selected oncogene sequencing. A specific pattern of chromosomal abnormalities was found in MDS/AML, which included 1q؉ (44.8%), 3q؉ (41.4%), ؊7/7q (17.2%), and 11q؊ (13.8%). Moreover, cryptic RUNX1/AML1 lesions (translocations, deletions, or mutations) were observed for the first time in FA (20.7%). Rare mutations of NRAS, FLT3-ITD, MLL-PTD, ERG amplification, and ZFP36L2-PRDM16 translocation, but no TP53, TET2, CBL, NPM1, and CEBP␣ mutations were found. Frequent homozygosity regions were related not to somatic copy-neutral loss of heterozygosity but to consanguinity, suggesting that homologous recombination is not a common progression mechanism in FA. Importantly, the RUNX1 and other chromosomal/genomic lesions were found at the MDS/AML stages, except for 1q؉, which was found at all stages. These data have implications for staging and therapeutic managing in FA patients, and also to analyze the mechanisms of clonal evolution and oncogenesis in a background of genomic instability and BM failure. (Blood. 2011;117(15):e161-e170)

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Section: Discussionmentioning

confidence: 99%

Section: Recurrent Genomic Lesions In Fa Mds/aml E165mentioning

confidence: 95%

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

Quentin

Cuccuini

Ceccaldi

et al. 2011

Blood

161

147

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“…What's more, PXDN were diminished in AML (Desmond et al 2007 Researches on FLJ42875 were limited. Only in a case report, upregulation of FLJ42875 by t(1;2)(p36;p21) translocation during evolution of CMML was reported with no further insight into mechanism of this gene (Storlazzi et al 2008). …”

Section: Relationship Between Genes' Expression and Survival In Primamentioning

confidence: 98%

A gene expression signature for defining aggressive phenotype and prognosis in intermediate-risk acute myeloid leukemia

Deng

2016

Preprint

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“…Three years later, a refractory anemia with excess of blasts-2 (RAEB-2) and a t(1;2) was diagnosed. The patient died one month later (Storlazzi et al, 2008). Refractory anemia with excess of blasts (RAEB) was diagnosed in a 69-year-old male patient.…”

Section: Clinicsmentioning

confidence: 99%

“…At least 3 of the 6 available cases were treatment related myelodysplastic syndromes (t-MDS) (Roulston et al, 1998;Mauritzson et al, 2002;Masuya et al, 2002), and 2 other cases were MDS (Horiike et al, 1988;Storlazzi et al, 2008).…”

Section: Phenotype/cell Stem Originmentioning

confidence: 99%

t(1;2)(p36;p21)

Huret¹

2011

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Upregulation of MEL1 and FLJ42875 genes by position effect resulting from a t(1;2)(p36;p21) occurring during evolution of chronic myelomonocytic leukemia

Cited by 10 publications

References 6 publications

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

A gene expression signature for defining aggressive phenotype and prognosis in intermediate-risk acute myeloid leukemia

t(1;2)(p36;p21)

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