Changes

Although ''IDH1'' mutations are rare in gastrointestinal malignancies, they are found in around 20% of intrahepatic cholangiocarcinomas (ICC). In this context, IDH1 mutations are associated with a longer time to tumour recurrence and a lower probability of recurrence[26–28]. The prognostic outlook for overall survival in these patients is unclear as data in the literature is mixed[26,29,30].

Although ''IDH1'' mutations are rare in gastrointestinal malignancies, they are found in around 20% of intrahepatic cholangiocarcinomas (ICC). In this context, IDH1 mutations are associated with a longer time to tumour recurrence and a lower probability of recurrence[26–28]. The prognostic outlook for overall survival in these patients is unclear as data in the literature is mixed[26,29,30].

Approximately 8% of acute myeloid leukaemias (AML) harbour ''IDH1'' mutations, although the frequency is higher in patients with normal karyotype[31]. Studies have been conflicted regarding the prognostic outlook of ''IDH1'' mutations in AML, but a meta-analysis of published data in 2017 found that overall survival and event-free survival were negatively impacted by IDH1 mutations, particularly in patients with normal karyotype[32]. The cumulative incidence of relapse in patients with intermediate-risk karyotype was improved, however. Interestingly, the synonymous single nucleotide polymorphism rs11554137 in ''IDH1'' was also associated with poorer overall survival. ''IDH1''-mutated AML is not found significantly more frequently in younger patients[31]. '''IDH1''' mutations are seen more often in the M1 French-American-British AML subtype when compared to ''IDH1'' wild-type AML[33].

Approximately 8% of acute myeloid leukaemias (AML) harbour ''IDH1'' mutations, although the frequency is higher in patients with normal karyotype[31]. Studies have been conflicted regarding the prognostic outlook of ''IDH1'' mutations in AML, but a meta-analysis of published data in 2017 found that overall survival and event-free survival were negatively impacted by IDH1 mutations, particularly in patients with normal karyotype[32]. The cumulative incidence of relapse in patients with intermediate-risk karyotype was improved, however. Interestingly, the synonymous single nucleotide polymorphism rs11554137 in ''IDH1'' was also associated with poorer overall survival. ''IDH1''-mutated AML is not found significantly more frequently in younger patients[31]. ''IDH1'' mutations are seen more often in the M1 French-American-British AML subtype when compared to ''IDH1'' wild-type AML[33].

''IDH1'' mutations are seen less commonly in other haematological malignancies such as myelodysplastic syndrome[34] and also in cancers of the prostate and thyroid[19], and are less well-studied in these contexts. Mutations of ''IDH1'' have been shown to often be stem or early subclonal events in carcinogenesis in all cancers studied thus far, including AML[25,35–38].

''IDH1'' mutations are seen less commonly in other haematological malignancies such as myelodysplastic syndrome[34] and also in cancers of the prostate and thyroid[19], and are less well-studied in these contexts. Mutations of ''IDH1'' have been shown to often be stem or early subclonal events in carcinogenesis in all cancers studied thus far, including AML[25,35–38].