alexa A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome
ISSN: 2161-1041

Hereditary Genetics: Current Research
Open Access

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Research Article

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

Angelo Valetto1*, Veronica Bertini1, Elena Ciabatti2,3, Maria Immacolata Ferreri1, Alice Guazzelli1, Antonio Azzarà2, Susanna Grassi2, Alessia Azzarà1, Francesca Guerrini2, Iacopo Petrini2,4 and Sara Galimberti2

1Laboratory of Medical Genetics, A.O.U.P., S. Chiara Hospital, Pisa, Italy

2Department of Clinical and Experimental Medicine, Section of Hematology, University of Pisa, Pisa, Italy

3GenOMeC, University of Siena

4Department of translational Research and New Technologies in Medicine, University of Pisa, Pisa, Italy

*Corresponding Author:
Valetto A
Laboratory of Medical Genetics
A.O.U.P., S. Chiara Hospital, Pisa, Italy
[email protected]

Received date: October 27, 2016; Accepted date: March 16, 2017; Published date: March 21, 2017

Citation: Valetto A, Bertini V, Ciabatti E, Ferreri MI, Guazzelli A, et al. (2017) A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome. Hereditary Genet 6:174. doi:10.4172/2161-1041.1000174

Copyright: © 2017 Valetto A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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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