Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘De-Novo’ TP53 Mutation

Salmon, Ashi; Amikam, Dorit; Sodha, Nayanta; Davidson, Scott D.; Basel‐Vanagaite, Lina; Eeles, Rosalind; Abeliovich, Dvorah; Peretz, T.

doi:10.1016/j.clon.2007.05.001

Cited by 67 publications

(40 citation statements)

References 18 publications

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“…In contrast, in a recent Spanish cohort, 95% of patients (71/75) with a TP53 mutation met the new Chompret criteria [6]. Clinical utility of the new criteria has been confirmed by many authors who also reported TP53 mutations in young patients with malignancies typical for LFS, but without a pathognomonic family history fulfilling the LFS criteria [7][8][9]. For example, in a study of 14 cases of childhood adrenocortical tumors, most germline TP53 mutations carriers did not have a family history fulfilling the classic LFS criteria, leading to the hypothesis of a de novo mutation or a low penetrance phenotype [10].…”

Section: Discussionmentioning

confidence: 77%

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53

Ferrarini¹,

Auteri-Kaczmarek²,

Pica

et al. 2011

Familial Cancer

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We report a 26-year-old female patient who was diagnosed within 4 years with chest sarcoma, lung adenocarcinoma, and breast cancer. While her family history was unremarkable, DNA sequencing of TP53 revealed a germline de novo non-sense mutation in exon 6 p.Arg213X. One year later, she further developed a contralateral ductal carcinoma in situ, and 18 months later a jaw osteosarcoma. This case illustrates the therapeutic pitfalls in the care of a young cancer patient with TP53 de novo germline mutations and the complications related to her first-line therapy. Suggestion is made to use the less stringent Chompret criteria for germline TP53 mutation screening. Our observation underlines the possibly negative effect of radiotherapy in generating second tumors in patients with a TP53 mutation. We also present a review of six previously reported cases, comparing their cancer phenotypes with those generally produced by TP53 mutations.

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Section: Discussionmentioning

confidence: 77%

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53

Ferrarini¹,

Auteri-Kaczmarek²,

Pica

et al. 2011

Familial Cancer

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“…The carcinogenicity of radiation therapy is probably attributable to genomic instability. Mutations in tumor suppressor genes such as TP53 induce early-onset postirradiation sarcoma [13] . Familial accumulation of malignant neoplasm in this patient may suggest genomic instability induced by radiation and may contribute to the short latency period.…”

Section: Discussionmentioning

confidence: 99%

Early-Onset Postirradiation Sarcoma of the Tongue after Pseudotumor Phase

Miyoshi

Takebayashi²,

Suzuki³

et al. 2011

ORL

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Radiation-induced sarcoma usually develops after an interval of more than 10 years from the completion of radiation therapy to the diagnosis of secondary sarcoma. However, the theory of radiation-induced transformation does not rule out postirradiation sarcomas with a short latency period. We experienced the case of a patient with postirradiation leiomyosarcoma of the tongue, which occurred 19 months after he had received chemoradiotherapy. Besides the short latency period, a pseudotumor stage developed between the time of radiation exposure and the development of leiomyosarcoma. In this article, we also describe an immunohistochemical approach to diagnose leiomyosarcoma and the efficacy of a gemcitabine and docetaxel regimen.

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“…Knowledge of the presence of a BRCA mutation may help patients make decisions about treatment of cancer and about possible preventive measures [1]. It has also been proposed that the knowledge that a breast cancer patient carries a predisposing mutation in TP53 may be helpful in deciding upon radiotherapy, because radiotherapy may be a risk factor for a second primary cancer [7]. It is not clear if, in the absence of a BRCA mutation, patients with early-onset breast cancer should also be tested for TP53, and if so, what should be the appropriate age cut-off.…”

Section: Introductionmentioning

confidence: 99%

The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30

et al. 2009

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Germ-line mutations in the TP53 gene are rare, but predispose women to a range of cancer types, including early-onset breast cancer. Breast cancers in women from families with the Li-Fraumeni syndrome often occur before age 30. The prevalence of deleterious TP53 mutations in unselected women with early-onset breast cancer is not precisely known. If mutations were found to be sufficiently common, it might be prudent to offer genetic testing to affected women in this age group. We screened the entire TP53 gene in the germ-line DNA from 95 women of various ethnic groups who were diagnosed with breast cancer before age 30, and who had previously been found to be negative for BRCA1 and BRCA2 mutations. No TP53 mutation was found. This study does not support a policy that TP53 testing should be offered routinely to unselected women with early-onset breast cancer in the absence of a family history of cancer.

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Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘De-Novo’ TP53 Mutation

Cited by 67 publications

References 18 publications

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53

Early-Onset Postirradiation Sarcoma of the Tongue after Pseudotumor Phase

The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30

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