Cellular radiosensitivity of patients with different types of neurofibromatosis

Hannan, Mohammed A.; Sackey, Kwesi; Sigut, David

doi:10.1016/0165-4608(93)90240-m

Cited by 14 publications

(5 citation statements)

References 14 publications

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“…Another approach to characterize radiosusceptibility is to analyze the role of the proteins encoded by the genes described in Table 1. As expected, genes involved in the susceptibility of spontaneous and radiation-induced cancers are related to proto-oncogenes, or oncogenes such as tuberous sclerosis [94][95][96][97] and neurofibromatosis type 1 [98][99][100][101] and type 2 [102][103][104], or else to repair of DNA damage that may be lead to misrepair (Figure 1). Again, among these syndromes, some are caused by mutated cytoplasmic proteins.…”

Section: Genetic Syndromes Associated With Radiosusceptibility From the Clinical Cellular And Molecular Criteriasupporting

confidence: 53%

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

El-Nachef

Al-Choboq

Restier-Verlet

et al. 2021

IJMS

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The individual response to ionizing radiation (IR) raises a number of medical, scientific, and societal issues. While the term “radiosensitivity” was used by the pioneers at the beginning of the 20st century to describe only the radiation-induced adverse tissue reactions related to cell death, a confusion emerged in the literature from the 1930s, as “radiosensitivity” was indifferently used to describe the toxic, cancerous, or aging effect of IR. In parallel, the predisposition to radiation-induced adverse tissue reactions (radiosensitivity), notably observed after radiotherapy appears to be caused by different mechanisms than those linked to predisposition to radiation-induced cancer (radiosusceptibility). This review aims to document these differences in order to better estimate the different radiation-induced risks. It reveals that there are very few syndromes associated with the loss of biological functions involved directly in DNA damage recognition and repair as their role is absolutely necessary for cell viability. By contrast, some cytoplasmic proteins whose functions are independent of genome surveillance may also act as phosphorylation substrates of the ATM protein to regulate the molecular response to IR. The role of the ATM protein may help classify the genetic syndromes associated with radiosensitivity and/or radiosusceptibility.

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Section: Genetic Syndromes Associated With Radiosusceptibility From the Clinical Cellular And Molecular Criteriasupporting

confidence: 53%

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

El-Nachef

Al-Choboq

Restier-Verlet

et al. 2021

IJMS

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“…The usefulness of long-term irradiation in detecting intermediate radiosensitivity of AT heterozygotes and body cells from patients with other diseases, including cancer, has been well documented. 18 " 20 The demonstration of an intermediate radiosensitivity of skin fibroblasts from the patients with atherosclerosis might suggest that some or most of these patients may have been carriers of the AT gene, supporting the epidemiological observations of Swift and Chase. 16 However, in view of the considerable interstrain differences in the level of radiosensitivity, particularly the response of patient 3, the possibility of other genes enhancing cellular sensitivity to genotoxic agents like radiation in patients with atherosclerosis cannot be ruled out.…”

Section: Discussionsupporting

confidence: 56%

Increased radiosensitivity and radioresistant DNA synthesis in cultured fibroblasts from patients with coronary atherosclerosis.

Hannan

Khougeer

Halees

et al. 1994

Arterioscler Thromb

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Cultured skin fibroblasts from five patients with atherosclerosis who underwent coronary artery bypass graft surgery were compared with those from one ataxia telangiectasia (AT) homozygote, three AT heterozygotes, and five healthy subjects to determine their sensitivity to gamma radiation as determined by a colony survival assay. Fibroblasts from four of these patients were also compared with those from two AT homozygotes, two AT heterozygotes, and three healthy subjects to determine postirradiation [ 3 H]thymidine incorporation, indicating the levels of radioresistant DNA synthesis (RDS). On the basis of colony survival assay, after long-term irradiation (at low dose rate, ie, 0.007 Gy/min), fibroblasts from all five patients with atherosclerosis exhibited radiosensitivity that was intermediate between that of the healthy subjects and that of patients with the known radiosensitive syndrome AT. However, there was a considerable interstrain difference in the radiosensitivity of fibroblasts from patients with atherosclerosis, with their mean D lo values C ardiovascular diseases and cancer are the major causes of morbidity and mortality in many countries. Several studies have suggested that multifactorial processes are involved in the origin of these diseases.1 ' 2 The evidence of monoclonality, somatic mutations, and a possible involvement of mutagen/carcinogen exposure in both atherosclerosis and carcinogenesis strongly indicated that at some stage the two diseases may follow a similar pathway and share common risk factors. 36 This would, inter alia, imply that genetic factors that increase susceptibility to malignancies may also enhance the risk of developing atherosclerosis. Among various carcinogenic factors, ionizing radiation has almost conclusively been shown to be atherogenic.811 Therefore, it is expected that individuals with increased sensitivity to radiation would be prone to develop atherosclerosis. The inherited disorder ataxia telangiectasia (AT), an autosomal recessive syndrome that is highly susceptible to malignancies, is characterized by its cellular hypersensitivity to ionizing radiation (showing reduced cell survival) as well as Received May 31, 1994; revision accepted August 19, 1994. © 1994 American Heart Association, Inc.(radiation dose resulting in 10% cell survival) varying between 2.3 and 6.2 Gy, whereas the mean D lo values for the cells from the AT homozygote, AT heterozygotes, and healthy subjects were 2.0, 3.8, and 9.0 Gy, respectively. One of the patients with atherosclerosis showed cellular radiosensitivity quite similar to that of the AT homozygote, up to 2% to 10% of survival levels after short-(at a dose rate of 8 Gy/min) and long-term irradiation, respectively. The results of [ 3 H]thymidine incorporation showed an AT heterozygote-like RDS in fibroblasts from patients with atherosclerosis that appeared to be intermediate between that of AT homozygotes and that of healthy subjects, suggesting a partial deregulation of cell cycle in the patients with atherosclerosis. Ove...

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“…Especially in patients with NF‐1, radiation exposure should be limited to a minimum, as data suggest enhanced risk of secondary, therapeutic radiation induced, malignancy and vasculopathy . Regarding cell culture experiments investigating the sensitivity of NF‐1‐mutated fibroblasts to irradiation, results are conflicting . To our knowledge, there is no pertinent literature on the role of low doses of radiation exposure in patients with NF‐1 in vivo, as caused by PET/CT.…”

Section: Discussionmentioning

confidence: 99%

Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [¹⁸F]FDG‐PET imaging. Is it of value in asymptomatic patients?

Azizi

Slavc

Theisen

et al. 2017

Pediatric Blood & Cancer

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Results: A total of 104 examinations were performed. Mean age at first PET was 13.5 years (2.6-22.6). Eight patients had at least one malignant lesion; four of these patients were asymptomatic. Two of four symptomatic patients died, while all patients with asymptomatic malignant lesions are alive. All malignant tumours could be identified by PET imaging in both symptomatic and asymptomatic patients. All lesions judged as benign by [ 18 F]FDG imaging and clinical judgment were either histologically benign if removed or remained clinically silent during follow-up.SUVmax of malignant and benign lesions overlapped, but no malignant lesion showed FDG uptake ≤3.15. Asymptomatic malignant lesions were detected with a sensitivity of 100%, a negative predictive value of 100% and a specificity of 45.1%. Conclusion:Malignant transformation of PN also occurs in asymptomatic children and adolescents. Detection of MPNST at early stages could increase the possibility of oncologically curative resections. K E Y W O R D S[ 18 F]FDG-PET, children, malignant peripheral nerve sheath tumour, neurofibromatosis type 1, plexiform neurofibroma

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Cellular radiosensitivity of patients with different types of neurofibromatosis

Cited by 14 publications

References 14 publications

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

Increased radiosensitivity and radioresistant DNA synthesis in cultured fibroblasts from patients with coronary atherosclerosis.

Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [¹⁸F]FDG‐PET imaging. Is it of value in asymptomatic patients?

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Cellular radiosensitivity of patients with different types of neurofibromatosis

Cited by 14 publications

References 14 publications

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

Increased radiosensitivity and radioresistant DNA synthesis in cultured fibroblasts from patients with coronary atherosclerosis.

Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [18F]FDG‐PET imaging. Is it of value in asymptomatic patients?

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Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [¹⁸F]FDG‐PET imaging. Is it of value in asymptomatic patients?