Increased prevalence of malignancy in mitochondrial disorders

Finsterer, Josef; Krexner, E.

doi:10.1016/j.jns.2013.07.1653

Cited by 7 publications

(8 citation statements)

References 24 publications

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“…Increased cancer prevalence has been observed in a group of patients with not clearly defined mitochondrial disease in adults compared with the total population of Austria (including children). However, the authors did not adjust for the age difference between the study group and the general population and therefore this observation cannot be used to elucidate the causal question ( Finsterer and Krexner, 2013 ). Thus, it remains to be shown whether impaired mitochondrial function per se is a cause or a consequence of cancer.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial dysfunction and risk of cancer

et al. 2015

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Background:Mitochondrial mutations are commonly reported in tumours, but it is unclear whether impaired mitochondrial function per se is a cause or consequence of cancer. To elucidate this, we examined the risk of cancer in a nationwide cohort of patients with mitochondrial dysfunction.Methods:We used nationwide results on genetic testing for mitochondrial disease and the Danish Civil Registration System, to construct a cohort of 311 patients with mitochondrial dysfunction. A total of 177 cohort members were identified from genetic testing and 134 genetically untested cohort members were matrilineal relatives to a cohort member with a genetically confirmed maternally inherited mDNA mutation. Information on cancer was obtained by linkage to the Danish Cancer Register. Standardised incidence ratios (SIRs) were used to assess the relative risk of cancer.Results:During 7334 person-years of follow-up, 19 subjects developed a primary cancer. The corresponding SIR for any primary cancer was 1.06 (95% confidence interval 0.68–1.63). Subgroup analyses according to mutational subtype yielded similar results, for example, a SIR of 0.94 (95% CI 0.53 to 1.67) for the m.3243A>G maternally inherited mDNA mutation, cases=13.Conclusions:Patients with mitochondrial dysfunction do not appear to be at increased risk of cancer compared with the general population.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial dysfunction and risk of cancer

et al. 2015

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“…Recent reports have identified a four-fold higher frequency of cancer (including breast) in patients with energy metabolism disorders [ 26 ] and IEMs are associated with elevated hexose/insulin disorders and gonadal and thyroid dysfunction that are themselves associated with high lactate/pyruvate ratios [ 18 ].…”

Section: Resultsmentioning

confidence: 99%

Inborn-like errors of metabolism are determinants of breast cancer risk, clinical response and survival: a study of human biochemical individuality

et al. 2018

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Breast cancer remains a leading cause of morbidity and mortality worldwide yet methods for early detection remain elusive. We describe the discovery and validation of biochemical signatures measured by mass spectrometry, performed upon blood samples from patients and controls that accurately identify (>95%) the presence of clinical breast cancer. Targeted quantitative MS/MS conducted upon 1225 individuals, including patients with breast and other cancers, normal controls as well as individuals with a variety of metabolic disorders provide a biochemical phenotype that accurately identifies the presence of breast cancer and predicts response and survival following the administration of neoadjuvant chemotherapy. The metabolic changes identified are consistent with inborn-like errors of metabolism and define a continuum from normal controls to elevated risk to invasive breast cancer. Similar results were observed in other adenocarcinomas but were not found in squamous cell cancers or hematologic neoplasms. The findings describe a new early detection platform for breast cancer and support a role for pre-existing, inborn-like errors of metabolism in the process of breast carcinogenesis that may also extend to other glandular malignancies.Statement of Significance: Findings provide a powerful tool for early detection and the assessment of prognosis in breast cancer and define a novel concept of breast carcinogenesis that characterizes malignant transformation as the clinical manifestation of underlying metabolic insufficiencies.

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“…It has been documented that patients with mitochondrial disease have an increased prevalence of cancer [12,13]. Researchers have found that mitochondrial disease can lead to genomic instability, and have measured the distribution of NUMTs in various cancers as compared to NUMTs in normal genomes.…”

Section: Mitochondrial Function and Cancermentioning

confidence: 99%

Meeting report from the Mitochondrial Medicine Southeast Regional Symposium — understanding mitochondrial disease and mitochondrial dysfunction: Opportunities and impacts in the clinic and laboratory

Stone¹,

Yeske

Stanley³

2017

TRD

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Abstract. On April 7th, 2017, the Foundation for Mitochondrial Medicine and the United Mitochondrial Disease Foundation held a Southeast Regional Symposium in Birmingham, Alabama to explore mitochondrial dysfunction, diseases and conditions related to mitochondrial dysfunction, their clinical management, and new therapies and tools to address those conditions. This article provides a report of the proceedings.

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Increased prevalence of malignancy in mitochondrial disorders

Cited by 7 publications

References 24 publications

Mitochondrial dysfunction and risk of cancer

Mitochondrial dysfunction and risk of cancer

Inborn-like errors of metabolism are determinants of breast cancer risk, clinical response and survival: a study of human biochemical individuality

Meeting report from the Mitochondrial Medicine Southeast Regional Symposium — understanding mitochondrial disease and mitochondrial dysfunction: Opportunities and impacts in the clinic and laboratory

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