BACKGROUND: Mutations at arginine 132 of isocitrate dehydrogenase 1/2 (IDH1/2) have recently been demonstrated to be recurrent gene alterations in acute myeloid leukemia (AML). Subsequently, this mutation was also found in a variety of other hematologic malignancies, including myelodysplastic syndromes, myeloproliferative diseases, and non-Hodgkin lymphoma. Only a few cases were so far identified in acute lymphoblastic leukemia (ALL). To study the IDH status in ALL patients, we analyzed 54 adult and 34 pediatric ALL samples' IDH1/2 gene. RESULTS: Three adult cases and no pediatric case with an isocitrate dehydrogenase 1 (IDH1) mutation were identified. No isocitrate dehydrogenase 2 (IDH2) mutation was identified in the total of 88 samples. The frequency of the IDH1 mutation in adult ALL was 5.5%. Among the three IDH1-mutated patients, two had normal karyotype and expressed the myeloid lineage markers. All three patients with an IDH1 mutation relapsed or died within 6 months. CONCLUSIONS: The results suggested that the IDH1 R132 mutation might be a recurrent gene alteration in ALL; patients carrying the mutation have a trend to aberrantly express myeloid antigen and the mutation may imply a dismal outcome.
BACKGROUND: Mutations at arginine 132 of isocitrate dehydrogenase 1/2 (IDH1/2) have recently been demonstrated to be recurrent gene alterations in acute myeloid leukemia (AML). Subsequently, this mutation was also found in a variety of other hematologic malignancies, including myelodysplastic syndromes, myeloproliferative diseases, and non-Hodgkin lymphoma. Only a few cases were so far identified in acute lymphoblastic leukemia (ALL). To study the IDH status in ALL patients, we analyzed 54 adult and 34 pediatric ALL samples' IDH1/2 gene. RESULTS: Three adult cases and no pediatric case with an isocitrate dehydrogenase 1 (IDH1) mutation were identified. No isocitrate dehydrogenase 2 (IDH2) mutation was identified in the total of 88 samples. The frequency of the IDH1 mutation in adult ALL was 5.5%. Among the three IDH1-mutated patients, two had normal karyotype and expressed the myeloid lineage markers. All three patients with an IDH1 mutation relapsed or died within 6 months. CONCLUSIONS: The results suggested that the IDH1 R132 mutation might be a recurrent gene alteration in ALL; patients carrying the mutation have a trend to aberrantly express myeloid antigen and the mutation may imply a dismal outcome.
Authors: Mi Ran Kang; Min Sung Kim; Ji Eun Oh; Yoo Ri Kim; Sang Yong Song; Seong Il Seo; Ji Youl Lee; Nam Jin Yoo; Sug Hyung Lee Journal: Int J Cancer Date: 2009-07-15 Impact factor: 7.396
Authors: Elaine R Mardis; Li Ding; David J Dooling; David E Larson; Michael D McLellan; Ken Chen; Daniel C Koboldt; Robert S Fulton; Kim D Delehaunty; Sean D McGrath; Lucinda A Fulton; Devin P Locke; Vincent J Magrini; Rachel M Abbott; Tammi L Vickery; Jerry S Reed; Jody S Robinson; Todd Wylie; Scott M Smith; Lynn Carmichael; James M Eldred; Christopher C Harris; Jason Walker; Joshua B Peck; Feiyu Du; Adam F Dukes; Gabriel E Sanderson; Anthony M Brummett; Eric Clark; Joshua F McMichael; Rick J Meyer; Jonathan K Schindler; Craig S Pohl; John W Wallis; Xiaoqi Shi; Ling Lin; Heather Schmidt; Yuzhu Tang; Carrie Haipek; Madeline E Wiechert; Jolynda V Ivy; Joelle Kalicki; Glendoria Elliott; Rhonda E Ries; Jacqueline E Payton; Peter Westervelt; Michael H Tomasson; Mark A Watson; Jack Baty; Sharon Heath; William D Shannon; Rakesh Nagarajan; Daniel C Link; Matthew J Walter; Timothy A Graubert; John F DiPersio; Richard K Wilson; Timothy J Ley Journal: N Engl J Med Date: 2009-08-05 Impact factor: 91.245
Authors: Marcelo L Ribeiro; Diana Reyes-Garau; Marc Armengol; Miranda Fernández-Serrano; Gaël Roué Journal: Front Genet Date: 2019-10-16 Impact factor: 4.599
Authors: Shaoxun Xiang; Hao Gu; Lei Jin; Rick F Thorne; Xu Dong Zhang; Mian Wu Journal: Proc Natl Acad Sci U S A Date: 2018-01-29 Impact factor: 11.205