Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer
Isocitrate dehydrogenase (IDH) encodes a nicotinamide adenine dinucleotide phosphate+-dependent enzyme for oxidative decarboxylation of isocitrate and has an essential role in the tricarboxylic acid cycle. Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other c...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-03-01
|
| Series: | Kaohsiung Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1607551X11002464 |
| _version_ | 1819105399282860032 |
|---|---|
| author | Jen-Yang Tang Chun-Chi Chang Pei-Chin Lin Jan-Gowth Chang |
| author_facet | Jen-Yang Tang Chun-Chi Chang Pei-Chin Lin Jan-Gowth Chang |
| author_sort | Jen-Yang Tang |
| collection | DOAJ |
| description | Isocitrate dehydrogenase (IDH) encodes a nicotinamide adenine dinucleotide phosphate+-dependent enzyme for oxidative decarboxylation of isocitrate and has an essential role in the tricarboxylic acid cycle. Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other cancers. However, the incidence of IDH mutations in acute myeloid leukemia in Taiwan is much lower than that reported in Western countries. The reason for the difference is unknown and its clinical implications remain unclear. Acute lymphoblastic leukemia (ALL) is a heterogenous hematopoietic malignancy. Oral squamous cell carcinoma (OSCC) results from chronic carcinogen exposures and is highly prevalent in trucking workers, especially in southern Taiwan. Subtypes of both diseases require specific treatments, and molecular markers for developing tailored treatments are limited. High-resolution melting (HRM) analysis is now a widely used methodology for rapid, accurate, and low-cost mutation scanning. In this study, 90 adults with OSC and 31 children with ALL were scanned by HRM analysis for IDH1 and IDH2 mutation hot spots. In ALL, the allele frequency was 3.23% in both IDH1 and IDH2. In OSCC, the allele frequency was 2.22% in IDH2. A synonymous mutation over pG313 (c.939A > G) of IDH2 was found in both pediatric ALL and adult OSCC. Therefore, we concluded that mutations of IDH are uncommon in ALL and OSCC and are apparently not a major consideration when selecting treatment modalities. |
| first_indexed | 2024-12-22T02:21:38Z |
| format | Article |
| id | doaj.art-0b8f7f4d564a47968a2c90138a26f464 |
| institution | Directory Open Access Journal |
| issn | 1607-551X |
| language | English |
| last_indexed | 2024-12-22T02:21:38Z |
| publishDate | 2012-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Kaohsiung Journal of Medical Sciences |
| spelling | doaj.art-0b8f7f4d564a47968a2c90138a26f4642022-12-21T18:42:07ZengWileyKaohsiung Journal of Medical Sciences1607-551X2012-03-0128313814410.1016/j.kjms.2011.10.023Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancerJen-Yang Tang0Chun-Chi Chang1Pei-Chin Lin2Jan-Gowth Chang3Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, TaiwanInstitute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, TaiwanInstitute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, TaiwanCancer Center, Kaohsiung Medical University Hospital, Kaohsiung, TaiwanIsocitrate dehydrogenase (IDH) encodes a nicotinamide adenine dinucleotide phosphate+-dependent enzyme for oxidative decarboxylation of isocitrate and has an essential role in the tricarboxylic acid cycle. Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other cancers. However, the incidence of IDH mutations in acute myeloid leukemia in Taiwan is much lower than that reported in Western countries. The reason for the difference is unknown and its clinical implications remain unclear. Acute lymphoblastic leukemia (ALL) is a heterogenous hematopoietic malignancy. Oral squamous cell carcinoma (OSCC) results from chronic carcinogen exposures and is highly prevalent in trucking workers, especially in southern Taiwan. Subtypes of both diseases require specific treatments, and molecular markers for developing tailored treatments are limited. High-resolution melting (HRM) analysis is now a widely used methodology for rapid, accurate, and low-cost mutation scanning. In this study, 90 adults with OSC and 31 children with ALL were scanned by HRM analysis for IDH1 and IDH2 mutation hot spots. In ALL, the allele frequency was 3.23% in both IDH1 and IDH2. In OSCC, the allele frequency was 2.22% in IDH2. A synonymous mutation over pG313 (c.939A > G) of IDH2 was found in both pediatric ALL and adult OSCC. Therefore, we concluded that mutations of IDH are uncommon in ALL and OSCC and are apparently not a major consideration when selecting treatment modalities.http://www.sciencedirect.com/science/article/pii/S1607551X11002464HRMIDHLeukemiaMutationOral cancer |
| spellingShingle | Jen-Yang Tang Chun-Chi Chang Pei-Chin Lin Jan-Gowth Chang Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer Kaohsiung Journal of Medical Sciences HRM IDH Leukemia Mutation Oral cancer |
| title | Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer |
| title_full | Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer |
| title_fullStr | Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer |
| title_full_unstemmed | Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer |
| title_short | Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer |
| title_sort | isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer |
| topic | HRM IDH Leukemia Mutation Oral cancer |
| url | http://www.sciencedirect.com/science/article/pii/S1607551X11002464 |
| work_keys_str_mv | AT jenyangtang isocitratedehydrogenasemutationhotspotsinacutelymphoblasticleukemiaandoralcancer AT chunchichang isocitratedehydrogenasemutationhotspotsinacutelymphoblasticleukemiaandoralcancer AT peichinlin isocitratedehydrogenasemutationhotspotsinacutelymphoblasticleukemiaandoralcancer AT jangowthchang isocitratedehydrogenasemutationhotspotsinacutelymphoblasticleukemiaandoralcancer |