Biochemical and imaging surveillance in Li-Fraumeni syndrome – Authors’ reply

Villani, Anita; Malkin, David

doi:10.1016/s1470-2045(16)30525-3

Cited by 5 publications

(4 citation statements)

References 6 publications

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“…This information is very important for these patients. Also, in carriers of germline mutations of genes required for DNA repair ( BAP1 , TP53 , BRCA1/BRCA2 , etc), MRI should be preferred to imaging that uses ionizing radiation, which can cause secondary malignancies . Because these patients and their relatives who inherited the same mutations (the rate of transmission of heterozygous mutations is approximately 50%) are susceptible to developing multiple malignancies, they should be screened for early detection, which can be life‐saving.…”

Section: Staging and Prognosismentioning

confidence: 99%

Mesothelioma: Scientific clues for prevention, diagnosis, and therapy

Carbone

Adusumilli

Alexander

et al. 2019

CA A Cancer J Clinicians

365

488

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Mesothelioma affects mostly older individuals who have been occupationally exposed to asbestos. The global mesothelioma incidence and mortality rates are unknown, because data are not available from developing countries that continue to use large amounts of asbestos. The incidence rate of mesothelioma has decreased in Australia, the United States, and Western Europe, where the use of asbestos was banned or strictly regulated in the 1970s and 1980s, demonstrating the value of these preventive measures. However, in these same countries, the overall number of deaths from mesothelioma has not decreased as the size of the population and the percentage of old people have increased. Moreover, hotspots of mesothelioma may occur when carcinogenic fibers that are present in the environment are disturbed as rural areas are being developed. Novel immunohistochemical and molecular markers have improved the accuracy of diagnosis; however, about 14% (high-resource countries) to 50% (developing countries) of mesothelioma diagnoses are incorrect, resulting in inadequate treatment and complicating epidemiological studies. The discovery that germline BRCA1-asssociated protein 1 (BAP1) mutations cause mesothelioma and other cancers (BAP1 cancer syndrome) elucidated some of the key pathogenic mechanisms, and treatments targeting these molecular mechanisms and/or modulating the immune response are being tested. The role of surgery in pleural mesothelioma is controversial as it is difficult to predict who will benefit from aggressive management, even when local therapies are added to existing or novel systemic treatments. Treatment outcomes are improving, however, for peritoneal mesothelioma. Multidisciplinary international collaboration will be necessary to improve prevention, early detection, and treatment. CA Cancer J Clin 2019;69:402-429.

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Section: Staging and Prognosismentioning

confidence: 99%

Mesothelioma: Scientific clues for prevention, diagnosis, and therapy

Carbone

Adusumilli

Alexander

et al. 2019

CA A Cancer J Clinicians

365

488

View full text Add to dashboard Cite

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“…Also, in carriers of germline variants of genes required for DNA repair ( BAP1 , TP53 , BRCA1/BRCA2 , etc.) ( 90 , 91 ), magnetic resonance imaging (MRI) should be preferred to X-ray imaging, which uses ionizing radiation and can cause secondary malignancies. These patients should be screened in order to obtain an early diagnosis that might increase their OS.…”

Section: Differences Between Ar-mpm and Non-ar-mpmmentioning

confidence: 99%

The genetic susceptibility in the development of malignant pleural mesothelioma: somatic and germline variants, clinicopathological features and implication in practical medical/surgical care: a narrative review

Congedo,

West,

Evangelista

et al. 2024

J Thorac Dis

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Background and Objective Malignant pleural mesothelioma (MPM) is a very aggressive primary tumor of the pleura whose main risk factor is exposure to asbestos. However, only a minority of exposed people develops MPM and the incidence of MPM cases without an apparent association with asbestos exposure has been increasing in recent years, suggesting that genetic predisposing factors may play a crucial role. In addition, several studies reported familial cases of MPM, suggesting that heredity may be an important and underestimated feature in MPM development. Several candidate genes have been associated with a predisposition to MPM and most of them play a role in DNA repair mechanisms: overall, approximately 20% of MPM cases may be related to genetic predisposition. A particular category of patients with high susceptibility to MPM is represented by carriers of pathogenic variants in the BAP1 gene. Germline variants in BAP1 predispose to the development of MPM following an autosomal dominant pattern of inheritance in the familial cases. MPMs in these patients are significantly less aggressive, and patients require a multidisciplinary approach that involves genetic counseling, medical genetics, pathology, surgical, medical, and radiation oncology expertise. In the present narrative review, we presented a comprehensive overview of genetic susceptibility in the development of MPM. Methods The narrative review is based on a selective literature carried out in PubMed in 2023. Inclusion criteria were original articles in English language, and clinical trials (randomized, prospective, or retrospective). Key Content and Findings We summarized the somatic and germline variants and the differences in terms of clinicopathological features and prognosis between gene-related MPM (GR-MPM) and asbestos-related MPM (AR-MPM). We also discussed the indications for screening, genetic testing, and surveillance of patients with BAP1 germline variants. Conclusions In this narrative review, we have emphasized that the BAP1 gene’s harmful germline variations are inherited in an autosomal dominant manner in familial cases. MPMs in individuals with these variations are less severe, and their medical care necessitates a collaborative effort. Additionally, we have outlined the current therapeutic prospects for MPM, including the possibility of gene-specific therapy, which is currently promising but still requires clinical validation.

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“…A recently published prospective case series suggested that the use of intensive multimodal screening (annual WB‐MRI and brain MRI, every 3–4 month ultrasound, and tumor marker serum/urine testing) results in early detection of cancers in LFS families and better outcomes for patients diagnosed by surveillance as opposed to clinically . These results are controversial, with many citing the “Toronto Protocol” as standard screening, and others suggesting that the risks and benefits of this approach are not well‐enough studied . An expert panel recently published consensus recommendations based upon individual institutional approach …”

Section: Introductionmentioning

confidence: 99%

“…8,9 These results are controversial, with many citing the "Toronto Protocol" as standard screening, and others suggesting that the risks and benefits of this approach are not well-enough studied. [10][11][12] An expert panel recently published consensus recommendations based upon individual institutional approach. 13 Several clinical centers have begun to use WB-MRI (outside of a research study) to accelerate accumulation of useful data in LFS patients for clinical and insurance review.…”

mentioning

confidence: 99%