Title | A targeted mutational landscape of angioimmunoblastic T-cell lymphoma. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Odejide O, Weigert O, Lane AA, Toscano D, Lunning MA, Kopp N, Kim S, van Bodegom D, Bolla S, Schatz JH, Teruya-Feldstein J, Hochberg E, Louissaint A, Dorfman D, Stevenson K, Rodig SJ, Piccaluga PPaolo, Jacobsen E, Pileri SA, Harris NL, Ferrero S, Inghirami G, Horwitz SM, Weinstock DM |
Journal | Blood |
Volume | 123 |
Issue | 9 |
Pagination | 1293-6 |
Date Published | 2014 Feb 27 |
ISSN | 1528-0020 |
Keywords | Adult, Aged, Aged, 80 and over, Cohort Studies, DNA Mutational Analysis, Female, Gene Frequency, Humans, Immunoblastic Lymphadenopathy, Lymphoma, T-Cell, Male, Middle Aged, Mutation |
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. |
DOI | 10.1182/blood-2013-10-531509 |
Alternate Journal | Blood |
PubMed ID | 24345752 |
Related Faculty:
Giorgio Inghirami, M.D.