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Overexpression of the LSAMP and TUSC7 genes in acute myeloid leukemia following microdeletion/duplication of chromosome 3.

Abstract
The 3q13.31 microdeletion syndrome is characterized by developmental delay, postnatal growth above the mean, characteristic facial features, and abnormal male genitalia. Moreover, a frequent deletion in the 3q13.31 chromosome region has been identified in patients who are affected by osteosarcomas. Among the genes located within the deleted region, the involvement of the limbic system-associated membrane protein gene (LSAMP), together with a non-coding RNA tumor suppressor candidate 7 gene (TUSC7), has been suggested. We describe the case of an adult acute myeloid leukemia (AML) patient with a novel chromosomal rearrangement characterized by a 3q13.31 microdeletion and an extra copy of the 3q13.31-q29 chromosomal region translocated to the long arm of the Y chromosome. This karyotypic aberration seems to cause LSAMP and TUSC7 gene expression dysregulation. In conclusion, we report the first case of LSAMP and TUSC7 gene overexpression, possibly due to a position effect in an AML patient bearing a 3q13.31 cryptic deletion.
AuthorsNicoletta Coccaro, Antonella Zagaria, Giuseppina Tota, Luisa Anelli, Paola Orsini, Paola Casieri, Angelo Cellamare, Angela Minervini, Luciana Impera, Crescenzio Francesco Minervini, Claudia Brunetti, Anna Mestice, Paola Carluccio, Cosimo Cumbo, Giorgina Specchia, Francesco Albano
JournalCancer genetics (Cancer Genet) Vol. 208 Issue 10 Pg. 517-22 (Oct 2015) ISSN: 2210-7762 [Print] United States
PMID26345353 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2015 Elsevier Inc. All rights reserved.
Chemical References
  • Cell Adhesion Molecules, Neuronal
  • GPI-Linked Proteins
  • RNA, Long Noncoding
  • limbic system-associated membrane protein
Topics
  • Aged
  • Cell Adhesion Molecules, Neuronal (genetics)
  • Chromosomes, Human, Pair 3 (genetics)
  • Chromosomes, Human, Y (genetics)
  • GPI-Linked Proteins (genetics)
  • Humans
  • Leukemia, Myeloid, Acute (genetics, pathology)
  • Male
  • RNA, Long Noncoding (genetics)
  • Sequence Deletion
  • Translocation, Genetic

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