ETV6 deletion is a common additional abnormality in patients with myelodysplastic syndromes or acute myeloid leukemia and monosomy 7

Wall, Meaghan; Rayeroux, Kathleen C.; MacKinnon, Ruth N.; Zordan, Adrian; Campbell, Lynda J.

doi:10.3324/haematol.2012.069716

Cited by 29 publications

(24 citation statements)

References 12 publications

(15 reference statements)

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“…In MDS and AML, a recent study reported that, in patients with monosomy 7, an additional ETV6 deletion is common. 46 Del(12p) was not systematically detected by karyotype whereas monosomy 7 was always found when present. 46 Alterations of 12p have been described in various hematologic malignancies such as acute lymphoblastic leukemia, AML, MDS and MPNs.…”

Section: Disease Progression and Prognosis In Myelofibrosismentioning

confidence: 98%

“…46 Del(12p) was not systematically detected by karyotype whereas monosomy 7 was always found when present. 46 Alterations of 12p have been described in various hematologic malignancies such as acute lymphoblastic leukemia, AML, MDS and MPNs. 47 The smallest deleted region encompasses the ETV6 transcription factor and CDKN1B/p27 tumor suppressor genes, in 12p13.…”

Section: Disease Progression and Prognosis In Myelofibrosismentioning

confidence: 98%

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Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

et al. 2013

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Myelofibrosis is a myeloproliferative neoplasm that occurs de novo (primary myelofibrosis) or results from the progression of polycythemia vera or essential thrombocytemia (hereafter designated as secondary myelofibrosis or post-polycythemia vera/ essential thrombocythemia myelofibrosis). To progress in the understanding of myelofibrosis and to find molecular prognostic markers we studied 104 samples of primary and secondary myelofibrosis at chronic (n=68) and acute phases (n=12) from 80 patients, by using array-comparative genomic hybridization and sequencing of 23 genes (ASXL1, BMI1, CBL, DNMT3A, EZH2, IDH1/2, JAK2, K/NRAS, LNK, MPL, NF1, PPP1R16B, PTPN11, RCOR1, SF3B1, SOCS2, SRSF2, SUZ12, TET2, TP53, TRPS1). We found copy number aberrations in 54% of samples, often involving genes with a known or potential role in leukemogenesis. We show that cases carrying a del(20q), del(17) or del(12p) evolve in acute myeloid leukemia (P=0.03). We found that 88% of the cases were mutated, mainly in signaling pathway (JAK2 69%, NF1 6%) and epigenetic genes (ASXL1 26%, TET2 14%, EZH2 8%). Overall survival was poor in patients with more than one mutation (P=0.001) and in patients with JAK2/ASXL1 mutations (P=0.02). Our study highlights the heterogeneity of myelofibrosis, and points to several interesting copy number aberrations and genes with diagnostic and prognostic impact. Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

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Section: Disease Progression and Prognosis In Myelofibrosismentioning

confidence: 98%

Section: Disease Progression and Prognosis In Myelofibrosismentioning

confidence: 98%

Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

et al. 2013

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“…Deletions of ETV6 have been observed in acute lymphoblastic leukemia (ALL), acute myeloid leukemia, and myelodysplastic syndromes. [41][42][43] ETV6 is a member of the E-twenty six transcription factor family and acts primarily as a transcriptional repressor involved in hematopoiesis, and functions as a tumor suppressor in myeloid leukemias. 44 FOXO3, which was deleted in 6 of 10 (60%) patients, has been shown to negatively regulate growth and survival in mantle cell lymphoma, B-CLL, and natural killer cell neoplasms.…”

Section: Discussionmentioning

confidence: 99%

The genomic landscape of Waldenström macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis

Hunter

Liu

Yang

et al. 2014

Blood

400

366

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“…This frequency has been shown to be much higher in association with monosomy 7 [12,17,18]. Wall et al tested ETV6 deletion in a series of 38 patients with diagnosis of MDS/MPN (myeloproliferative neoplasms) or AML with monosomy 7 [19]. 6 out of 38 patients (16%) showed an ETV6 deletion, that, in 5/6 was undetectable by conventional cytogenetic methods, as observed in our case.…”

Section: Discussionmentioning

confidence: 91%

A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome

Valetto¹,

Bertini²,

Ciabatti³

et al. 2017

HGCR

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We present on a new case of myelodysplastic syndrome characterized by array Comparative Genomic Hybridization. This technique confirmed the monosomy 7, detected by conventional cytogenetics, and revealed also a deletion on the short arm of chromosome 12. This deletion extends for about 14.8 Mb and breaks ETV6 gene.12p deletion extents in hematological malignancies may vary, but the minimally deleted region almost invariably contains ETV6, that is considered the main candidate tumor suppressor genes within the region for tumor progression. It has been shown that levels of ETV6 were significantly decreased in cases with 12p13 deletions, whereas expression of other genes in the deleted region, like BCL2L14, LRP6, DUSP16 and GPRC5D, did not show any variation, independently of their copy number status. This observation strengthens the fact that ETV6 may play a potential role in the tumorigenesis process. The role of ETV6 in our patient myelodysplastic syndrome is showed by his clinical history and his poor prognosis.

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ETV6 deletion is a common additional abnormality in patients with myelodysplastic syndromes or acute myeloid leukemia and monosomy 7

Cited by 29 publications

References 12 publications

Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

The genomic landscape of Waldenström macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis

A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome

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