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FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non‐Hodgkin lymphoma
Author(s) -
Park MyoungJa,
Taki Tomohiko,
Oda Megumi,
Watanabe Tomoyuki,
YumuraYagi Keiko,
Kobayashi Ryoji,
Suzuki Nobuhiro,
Hara Junichi,
Horibe Keizo,
Hayashi Yasuhide
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2009.07607.x
Subject(s) - missense mutation , lymphoma , mutation , t cell lymphoma , medicine , t cell , lymphoblastic lymphoma , cancer research , oncology , gene , biology , immunology , genetics , immune system
Summary Mutation analysis of FBXW7 and NOTCH1 genes was performed in 55 T cell acute lymphoblastic leukaemia (T‐ALL) and 14 T cell non‐Hodgkin lymphoma (T‐NHL) patients who were treated on the Japan Association of Childhood Leukaemia Study (JACLS) protocols ALL‐97 and NHL‐98. FBXW7 and/or NOTCH1 mutations were found in 22 (40·0%) of 55 T‐ALL and 7 (50·0%) of 14 T‐NHL patients. FBXW7 mutations were found in 8 (14·6%) of 55 T‐ALL and 3 (21·4%) of 14 T‐NHL patients, and NOTCH1 mutations in 17 (30·9%) of 55 T‐ALL and 6 (42·9%) of 14 T‐NHL patients. Three (5·4%) T‐ALL and two (1·4%) T‐NHL patients had mutations in both FBXW7 and NOTCH1 . FBXW7 mutations included one insertion, one deletion, one deletion/insertion and nine missense mutations. NOTCH1 mutations were detected in the heterodimerization domain (HD) in 15 cases, in the PEST domain in seven cases, and in both the HD and PEST domains in one case. Five‐year event‐free survival and overall survival for patients with FBXW7 and/or NOTCH1 mutations were 95·5% (95% CI, 71·9–99·4%) and 100% respectively, suggesting that T‐ALL patients with FBXW7 and/or NOTCH1 mutation represent a good prognosis compared to those without FBXW7 and/or NOTCH1 mutations (63·6%, P = 0·007 and 78·8%, P = 0·023, respectively).