TITLE

IDH1 R132C mutation is detected in clear cell hepatocellular carcinoma by pyrosequencing

AUTHOR(S)
Jung Hee Lee; Dong Hoon Shin; Won Young Park; Nari Shin; Ahrong Kim; Hyun Jung Lee; Young Keum Kim; Kyung Un Choi; Jee Yeon Kim; Young Il Yang; Chang Hun Lee; Mee Young Sol
PUB. DATE
April 2017
SOURCE
World Journal of Surgical Oncology;4/12/2017, Vol. 15, p1
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background: Isocitrate dehydrogenase 1 (IDH1) mutation is common in low-grade glioma (approximately 80%) and acute myeloid leukemia (approximately 10%). Other than brain tumor or hematologic malignancies, intrahepatic cholangiocarcinoma (iCC) is a well-known solid tumor with IDH1 mutation (6.8-20%). Histologically, poor differentiation and clear cell change are associated with IDH1 mutation in iCC. Since hepatocellular carcinoma (HCC) shares histologic features with iCC, some specific subtypes of HCC might show a higher IDH1 mutation rate than reported before (0.5-1.5%). Methods: Forty-six cases of iCC and 48 cases of HCC (including 20 cases of clear cell type and 13 cases of pseudoglandular pattern) were tested for IDH1 mutation by pyrosequencing. Results: Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys. IDH1 mutant HCCs were all clear cell type. Although the IDH1 mutation rate between iCC and HCC demonstrated no significant difference, clear cell HCC revealed statistically increased mutation rate compared to that of HCC without clear cell change (P = 0.009). Presence of IDH1 mutation was related with poor survival in clear cell HCC patients (P = 0.004). Conclusions: Clear cell HCC showed higher frequency of IDH1 mutation rate than other variants of HCC. This result consolidates the assumption that morphological features of tumors reflect molecular alterations.
ACCESSION #
122459872

 

Related Articles

  • ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an 'integrated' diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. Reuss, David; Sahm, Felix; Schrimpf, Daniel; Wiestler, Benedikt; Capper, David; Koelsche, Christian; Schweizer, Leonille; Korshunov, Andrey; Mittelbronn, Michel; Platten, Michael; Wick, Wolfgang; Pfister, Stefan; Deimling, Andreas; Jones, David; Hovestadt, Volker; Schittenhelm, Jens; Herold-Mende, Christel; Unterberg, Andreas; Weller, Michael // Acta Neuropathologica;Jan2015, Vol. 129 Issue 1, p133 

    Diffuse gliomas are represented in the 2007 WHO classification as astrocytomas, oligoastrocytomas and oligodendrogliomas of grades II and III and glioblastomas WHO grade IV. Molecular data on these tumors have a major impact on prognosis and therapy of the patients. Consequently, the inclusion...

  • IDH1 R132H mutation in a pilocytic astrocytoma: a case report. Behling, Felix; Steinhilber, Julia; Tatagiba, Marcos; Bisdas, Sotirios; Schittenhelm, Jens // International Journal of Clinical & Experimental Medicine;2015, Vol. 8 Issue 9, p11809 

    We present the case of a 72-year old female with a right cerebellar pilocytic astrocytoma WHO grade I with an Isocitrate dehydrogenase 1 (IDH1) R132H mutation. The patient is recurrence-free 6 years after the initial diagnosis. Only one single case with strikingly similar clinicopathological...

  • Clinical and biological implications of ancestral and non-ancestral IDH1 and IDH2 mutations in myeloid neoplasms. Molenaar, R J; Thota, S; Nagata, Y; Patel, B; Clemente, M; Przychodzen, B; Hirsh, C; Viny, A D; Hosano, N; Bleeker, F E; Meggendorfer, M; Alpermann, T; Shiraishi, Y; Chiba, K; Tanaka, H; van Noorden, C J F; Radivoyevitch, T; Carraway, H E; Makishima, H; Miyano, S // Leukemia (08876924);Nov2015, Vol. 29 Issue 11, p2134 

    Mutations in isocitrate dehydrogenase 1/2 (IDH1/2(MT)) are drivers of a variety of myeloid neoplasms. As they yield the same oncometabolite, D-2-hydroxyglutarate, they are often treated as equivalent, and pooled. We studied the validity of this approach and found IDH1/2 mutations in 179 of 2119...

  • The Frequency and Clinical Significance of IDH1 Mutations in Chinese Acute Myeloid Leukemia Patients. Guan, Lixun; Gao, Li; Wang, Lili; Li, Meng; Yin, Yue; Yu, Li; Gao, Chunji // PLoS ONE;Dec2013, Vol. 8 Issue 12, p1 

    Objective: Mutations in the gene encoding isocitrate dehydrogenease 1 (IDH1) occur in various hematopoietic tumors including acute myeloid leukemia (AML), myeloproliferative neoplasms and myelodysplastic syndromes. IDH1 mutations are significant in both diagnosis and prognosis of these...

  • Prognostic significance of IDH1 mutations in acute myeloid leukemia: a meta-analysis. Jian-Hua Feng; Xiao-PingGuo; Yuan-Yuan Chen; Zhu-Jun Wang; Yu-PingCheng; Yong-Min Tang // American Journal of Blood Research;2012, Vol. 2 Issue 4, p254 

    Isocitrate dehydrogenase 1 (IDH1) gene aberrations have recently been reported in acute myeloid leukemia (AML). To evaluate the prognostic significance of IDH1 mutations in AML, we performed a meta-analysis. Fifteen studies covering a total of 8121 subjects were included in this analysis. The...

  • Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations. Sellar, Rob // Current Medical Literature: Leukemia & Lymphoma;2014, Vol. 22 Issue 2, p63 

    The article discusses a study published in the periodical "New England Journal of Medicine" on mutations in Tet methylcytosine dioxygenase 2 (TET2) and isocitrate dehydrogenase 1 and 2 (IDH1/2) in patients with myelodysplastic syndrome (MDS). Topics include the effect of TET2 mutations in...

  • Anticancer drugs: IDH2 drives cancer in vivo. Lokody, Isabel // Nature Reviews Drug Discovery;Nov2013, Vol. 12 Issue 11, p826 

    The article focuses on the potential association of isocitrate dehydrogenase 2 (IDH2) mutation in sarcoma and leukaemia in vivo development. It references the studies "Induction of sarcomas by mutant IDH2," by C. Lu and colleagues and "Cancer-associated IDH2 mutants drive an acute myeloid...

  • The role of mutations in epigenetic regulators in myeloid malignancies. Shih, Alan H.; Abdel-Wahab, Omar; Patel, Jay P.; Levine, Ross L. // Nature Reviews Cancer;Sep2012, Vol. 12 Issue 9, p599 

    Recent genomic studies have identified novel recurrent somatic mutations in patients with myeloid malignancies, including myeloproliferative neoplasms (MPNs), myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). In some cases these mutations occur in genes with known roles in...

  • IDH1 and IDH2 mutations in therapy-related myelodysplastic syndrome and acute myeloid leukemia are associated with a normal karyotype and with der(1;7)(q10;p10). Westman, M K; Pedersen-Bjergaard, J; Andersen, M T; Andersen, M K // Leukemia (08876924);Apr2013, Vol. 27 Issue 4, p957 

    This article discusses research on the frequency of isocitrate dehydrogenase (IDH) gene mutations in therapy-related myelodysplastic syndrome (t-MDS) and acute myeloid leukemia (t-AML) and their association to leukemic transformation. The results revealed that IDH1 and IDH2 mutations were...

  • Isocitrate dehydrogenase 1 and 2 mutations induce BCL-2 dependence in acute myeloid leukemia. Chan, Steven M; Thomas, Daniel; Corces-Zimmerman, M Ryan; Xavy, Seethu; Rastogi, Suchita; Hong, Wan-Jen; Zhao, Feifei; Medeiros, Bruno C; Tyvoll, David A; Majeti, Ravindra // Nature Medicine;Feb2015, Vol. 21 Issue 2, p178 

    Mutant isocitrate dehydrogenase (IDH) 1 and 2 proteins alter the epigenetic landscape in acute myeloid leukemia (AML) cells through production of the oncometabolite (R)-2-hydroxyglutarate (2-HG). Here we performed a large-scale RNA interference (RNAi) screen to identify genes that are synthetic...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics