A targeted mutational landscape of angioimmunoblastic T-cell lymphoma Journal Article


Authors: Odejide, O.; Weigert, O.; Lane, A. A.; Toscano, D.; Lunning, M. A.; Kopp, N.; Kim, S.; van Bodegom, D.; Bolla, S.; Schatz, J. H.; Teruya-Feldstein, J.; Hochberg, E.; Louissaint, A.; Dorfman, D.; Stevenson, K.; Rodig, S. J.; Piccaluga, P. P.; Jacobsen, E.; Pileri, S. A.; Harris, N. L.; Ferrero, S.; Inghirami, G.; Horwitz, S. M.; Weinstock, D. M.
Article Title: A targeted mutational landscape of angioimmunoblastic T-cell lymphoma
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.
Keywords: genes; frequent; lymphocytic-leukemia; tet2; notch1 mutations; stat3 mutations
Journal Title: Blood
Volume: 123
Issue: 9
ISSN: 0006-4971
Publisher: American Society of Hematology  
Date Published: 2014-02-27
Start Page: 1293
End Page: 1296
Language: English
ACCESSION: WOS:000335839300010
DOI: 10.1182/blood-2013-10-531509
PROVIDER: wos
PUBMED: 24345752
PMCID: PMC4260974
Notes: Article -- Source: Wos
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  1. Julie T Feldstein
    297 Feldstein
  2. Matthew Alexander Lunning
    31 Lunning
  3. Steven M Horwitz
    645 Horwitz
  4. Jonathan Harry Schatz
    15 Schatz