Blood · 2013
A targeted mutational landscape of angioimmunoblastic T-cell lymphoma.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Odejide Oreofe, Weigert Oliver, Lane Andrew A, Toscano Dan, Lunning Matthew A, Kopp Nadja, Kim Sunhee, van Bodegom Diederik, Bolla Sudha, Schatz Jonathan H, Teruya-Feldstein Julie, Hochberg Ephraim, Louissaint Abner, Dorfman David, Stevenson Kristen, Rodig Scott J, Piccaluga Pier Paolo, Jacobsen Eric, Pileri Stefano A, Harris Nancy L, Ferrero Simone, Inghirami Giorgio, Horwitz Steven M, Weinstock David M
Аннотация
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.