| Literature DB >> 24345752 |
Oreofe Odejide1, Oliver Weigert, Andrew A Lane, Dan Toscano, Matthew A Lunning, Nadja Kopp, Sunhee Kim, Diederik van Bodegom, Sudha Bolla, Jonathan H Schatz, Julie Teruya-Feldstein, Ephraim Hochberg, Abner Louissaint, David Dorfman, Kristen Stevenson, Scott J Rodig, Pier Paolo Piccaluga, Eric Jacobsen, Stefano A Pileri, Nancy L Harris, Simone Ferrero, Giorgio Inghirami, Steven M Horwitz, David M Weinstock.
Abstract
The genetics of angioimmunoblastic T-cell lymphoma (AITL) are very poorly understood. We defined the mutational landscape of AITL across 219 genes in 85 cases from the United States and Europe. We identified ≥2 mutations in 34 genes, nearly all of which were not previously implicated in AITL. These included loss-of-function mutations in TP53 (n = 4), ETV6 (n = 3), CCND3 (n = 2), and EP300 (n = 5), as well as gain-of-function mutations in JAK2 (n = 2) and STAT3 (n = 4). TET2 was mutated in 65 (76%) AITLs, including 43 that harbored 2 or 3 TET2 mutations. DNMT3A mutations occurred in 28 (33%) AITLs; 100% of these also harbored TET2 mutations (P < .0001). Seventeen AITLs harbored IDH2 R172 substitutions, including 15 with TET2 mutations. In summary, AITL is characterized by high frequencies of overlapping mutations in epigenetic modifiers and targetable mutations in a subset of cases.Entities:
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Year: 2013 PMID： 24345752 PMCID： PMC4260974 DOI： 10.1182/blood-2013-10-531509
Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113