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

Lee, Jun Young; Shin, Dong Hoon; Park, Won Young; Shin, Nari; Kim, Ahrong; Lee, Hyun Jung; Kim, Young Keum; Choi, Kyung Un; Kim, Jee Yeon; Yang, Young Il; Lee, Chang-Hun; Sol, Mee Young

doi:10.1186/s12957-017-1144-1

Cited by 25 publications

(23 citation statements)

References 33 publications

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“…In this study, the average age of PCCCL patients was 64.1 years (range: 18-94 years), which was older than those reported by Qing-Yu Liu et al [14] (52 years) and Jung Hee Lee [25] (58.8 years). Regarding sex, our study indicated a male-to-female ratio of 1.43, indicating that males were more prone than females.…”

Section: Discussioncontrasting

confidence: 53%

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Predictors and survival of Primary clear cell carcinoma of liver: a population-based study of an uncommon primary liver tumor

Wen¹,

Yao²,

Xue³

et al. 2020

Preprint

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Background: The clinicopathological features and prognostic factors of primary clear cell carcinoma of the liver (PCCCL) remain unknown. Aims: We aimed to determine the clinical, pathological, demographic, and therapeutic characteristics of PCCCL and the effects of these factors on the prognosis. Methods: Patients were selected from the "Surveillance, Epidemiology and End Results" (SEER) database. Data were analyzed with the Kaplan-Meier, Cox proportional hazards regression, and multivariate ordinal regression analyses. Results: We included 248 PCCCL patients with an average age of 64.1 years. The majority (50.4%) had low pathological grade (grade I/II). The 3-, 5-, and 10-year overall survival (OS) probabilities and disease-specific survival (DSS) rates were 33.8%, 23.2%, 12.2%, and 39.8%, 28.3%, 19.1%, respectively. The widowed patients (OS, P=0.271; DSS, P=0.022) with tumor ≥ 1 cm (OS, P=0.001; DSS, P=0.002) had a higher risk of death. Uninsurance and medicaid were independently associated with a shorter survival (OS, P=0.029; DSS, P=0.017). Among surgical means, total proctectomy along with total colectomy, and wedge or segmental resection/partial proctosigmoidectomy were more beneficial to PCCCL. The black PCCCL patients had a poorer survival than the white group. Furthermore, pathological grade I PCCCL was more likely to present AJCC stage I (P=0.005, OR=-1.062). Conclusion: PCCCL patients had a poor outcome. PCCCL was inclined to be localized, male-prevalent and lower pathological grade. Insurance, tumor size, and marital status were independent prognostic factors for OS and DSS, whereas race affected only OS. Surgery could improve OS and DSS. Moreover, highly differentiated PCCCL was susceptible to early AJCC stage.

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Section: Discussioncontrasting

confidence: 53%

“…Aggressive morphologic features and aneuploidy have been reported to be associated with the prognosis of PCCCL [44]. Clear cell HCC shows a higher frequency of IDH1 mutation, which is associated with shorter survival times [25]. Lack of such information limits our full understanding of PCCCL.…”

Section: Discussionmentioning

confidence: 99%

Predictors and survival of Primary clear cell carcinoma of liver: a population-based study of an uncommon primary liver tumor

Wen¹,

Yao²,

Xue³

et al. 2020

Preprint

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“…More recently, D2HG accumulation as a result of loss-of-function mutations in D2HGDH has been observed in a small subset of large B-cell lymphoma 91 , implicating both the synthesis and conversion of D2HG in its accumulation in cancer. Using the cBioPortal Database 97 , <1% of IDH1/2 mutations are found in large-scale cancer genomic studies of RCC such as the TCGA dataset 97,98 . Although 2HG was identified to be significantly accumulated in human ccRCC tissues, >90% of this was in the L2HG isoform 99 , suggesting D2HG is unlikely to have a significant role in RCC pathogenesis.…”

Section: Pathogenesis Of Oncometabolite Accumulation Endogenous Origimentioning

confidence: 99%

Oncometabolites in renal cancer

2019

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The study of cancer metabolism has evolved vastly beyond the remit of tumour proliferation and survival, with an unveiling of the ostensible role of 'oncometabolites' in tumorigenesis. Simply defined, oncometabolites are conventional metabolites that when aberrantly accumulated have prooncogenic functions. Their discovery has led us to revisit the original, dispelled Warburg hypothesis, first postulated in the 1950s, of aberrant metabolism as an aetiological determinant of cancer. As such, the identification of oncometabolites alongside their attractive utilisation in diagnostics and prognostics, as novel therapeutic targets and as biomarkers of disease, has been intensely sought after in oncology. To date, fumarate, succinate and 2-hydroxyglutarate have been characterised as bona fide oncometabolites. Renal cell carcinoma (RCC) is an established example of a cancer type with extensive metabolic reprogramming during tumour initiation and progression. With oncometabolites postulated to be rooted in the oncological origins and drivers of tumorigenesis, in combination with all three of these oncometabolites remarkably implicated in RCC, this timely review synthesises the literature to date on oncometabolites in RCC, their oncogenic mechanisms and the clinical impact oncometabolites may have in the management of RCC.

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“…Most studies comparing the prognosis of clear cell HCC versus conventional HCC showed a better prognosis of the former[55,56], or at least similar outcomes for both[57,58]. Interestingly, Lee et al[59] reported the presence of IDH1 mutation in 25% of clear cell HCC. These IDH1 mutated clear cell HCCs showed a statistically significant worse prognosis compared to IDH1 wild-type clear cell HCCs.…”

Section: Selected Subtypes Of Hepatocellular Carcinomamentioning

confidence: 99%

Update on hepatocellular carcinoma: Pathologists’ review

Jabbour

Lagana

Lee

2019

WJG

117

102

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Histopathologic diversity and several distinct histologic subtypes of hepatocellular carcinoma (HCC) are well-recognized. Recent advances in molecular pathology and growing knowledge about the biology associated with distinct histologic features and immuno-profile in HCC allowed pathologists to update classifications. Improving sub-classification will allow for more clinically relevant diagnoses and may allow for stratification into biologically meaningful subgroups. Therefore, immuno-histochemical and molecular testing are not only diagnostically useful, but also are being incorporated as crucial components in predicting prognosis of the patients with HCC. Possibilities of targeted therapy are being explored in HCC, and it will be important for pathologists to provide any data that may be valuable from a theranostic perspective. Herein, we review and provide updates regarding the pathologic sub-classification of HCC. Pathologic diagnostic approach and the role of biomarkers as prognosticators are reviewed. Further, the histopathology of four particular subtypes of HCC: Steatohepatitic, clear cell, fibrolamellar and scirrhous - and their clinical relevance, and the recent consensus on combined HCC-cholangiocarcinoma is summarized. Finally, emerging novel biomarkers and new approaches to HCC stratification are reviewed.

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

Cited by 25 publications

References 33 publications

Predictors and survival of Primary clear cell carcinoma of liver: a population-based study of an uncommon primary liver tumor

Predictors and survival of Primary clear cell carcinoma of liver: a population-based study of an uncommon primary liver tumor

Oncometabolites in renal cancer

Update on hepatocellular carcinoma: Pathologists’ review

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