Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes

Thariat, Juliette; Chevalier, François; Orbach, Daniel; Ollivier, Laurence; Marcy, Pierre-Yves; Corradini, Nadège; Beddok, Arnaud; Foray, Nicolas; Bougeard, Gaëlle

doi:10.1016/s1470-2045(21)00425-3

Cited by 32 publications

(22 citation statements)

References 90 publications

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“…We anticipate that connections between chromatin structural alterations and patient outcomes will ultimately influence clinical decision making. For example, for low mutational burden tumors with high SV illuminated through 3D genomics, radiation therapy may not be the most efficacious strategy [ 86 ]. We look forward to many exciting advances in the coming years with increased integration of single cell imaging approaches and 3D chromatin sequencing to understand chromatin structure in cancer, and to separate cause from consequence in altered chromatin domains.…”

Section: Discussionmentioning

confidence: 99%

Chromatin structure in cancer

Wang

Sunkel

Ray

2022

BMC Mol and Cell Biol

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In the past decade, we have seen the emergence of sequence-based methods to understand chromosome organization. With the confluence of in situ approaches to capture information on looping, topological domains, and larger chromatin compartments, understanding chromatin-driven disease is becoming feasible. Excitingly, recent advances in single molecule imaging with capacity to reconstruct “bulk-cell” features of chromosome conformation have revealed cell-to-cell chromatin structural variation. The fundamental question motivating our analysis of the literature is, can altered chromatin structure drive tumorigenesis? As our community learns more about rare disease, including low mutational frequency cancers, understanding “chromatin-driven” pathology will illuminate the regulatory structures of the genome. We describe recent insights into altered genome architecture in human cancer, highlighting multiple pathways toward disruptions of chromatin structure, including structural variation, noncoding mutations, metabolism, and de novo mutations to architectural regulators themselves. Our analysis of the literature reveals that deregulation of genome structure is characteristic in distinct classes of chromatin-driven tumors. As we begin to integrate the findings from single cell imaging studies and chromatin structural sequencing, we will be able to understand the diversity of cells within a common diagnosis, and begin to define structure–function relationships of the misfolded genome.

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Section: Discussionmentioning

confidence: 99%

Chromatin structure in cancer

Wang

Sunkel

Ray

2022

BMC Mol and Cell Biol

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“…Up to 81% of patients, specifically in Southern Brazil carry germline TP53 variants, mainly due to the common germline TP53 mutation R337H [10,15,48]. Because patients with tumor predisposition syndrome carriers have a high lifetime risk of developing multiple primary malignancies, particularly after exposure to radio-and/or chemotherapy treatments [49], determination to implement RT must be weighed critically against risk factors and toxicity [15,50]. One of the largest retrospective studies by Bougeard, et al, on LFS patients reported the incidence of secondary tumors in a previous radiation field at 30% [16].…”

Section: Discussionmentioning

confidence: 99%

Radiotherapy for pediatric adrenocortical carcinoma – Review of the literature

Wiegering

Riedmeier²,

Thompson

et al. 2022

Clinical and Translational Radiation Oncology

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“…The presence of LFS in this patient adds complexity to the case, as there have been recommendations against the use of radiotherapy in patients with LFS due to the risk of radiation-induced malignancies [ 7 ]. However, recent studies have shown that the incidence rate of radiation-induced malignancies in LFS patients may not be as high as previously believed.…”

Section: Discussionmentioning

confidence: 99%