2016
DOI: 10.1210/jc.2016-1460
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Familial Adrenocortical Carcinoma in Association With Lynch Syndrome

Abstract: Context:Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with a poor prognosis. Although the majority of childhood ACC arises in the context of inherited cancer susceptibility syndromes, it remains less clear whether a hereditary tumor predisposition exists for the development of ACC in adults. Here, we report the first occurrence of familial ACC in a kindred with Lynch syndrome resulting from a pathogenic germline MSH2 mutation.Case:A 54-year-old female with a history of ovarian and colorectal ma… Show more

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Cited by 30 publications
(15 citation statements)
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“…Of particular interest, we identified MSI in 4 (4.4%) of 92ACCcases. Previous studies of MSI in ACC have implicated Lynch syndrome as a risk factor for familial ACC 80,81 ; however, to our knowledge, NGS-based MSI analysis has not yet been applied to ACC.…”
Section: Discussionmentioning
confidence: 97%
See 1 more Smart Citation
“…Of particular interest, we identified MSI in 4 (4.4%) of 92ACCcases. Previous studies of MSI in ACC have implicated Lynch syndrome as a risk factor for familial ACC 80,81 ; however, to our knowledge, NGS-based MSI analysis has not yet been applied to ACC.…”
Section: Discussionmentioning
confidence: 97%
“…In addition, there have been anecdotal reports of ACC 80,81 as a potential extracolonic manifestation of Lynch syndrome. If future studies indicate that MSI in ACC, CESC, and/or MESO is indeed a result of MMR deficiency, the findings of this study may implicate previously unappreciated cancer types as being part of Lynch syndrome.…”
Section: Discussionmentioning
confidence: 99%
“…ACC was not represented in these initial studies, but is a recognized Lynch syndrome associated malignancy [1], [2]. Whether sporadic or associated with an inherited tumor syndrome, the standard treatment for patients with good performance status and unresectable or metastatic ACC is currently combination chemotherapy consisting of etoposide, doxorubicin, cisplatin, and mitotane.…”
Section: Discussionmentioning
confidence: 99%
“…Adrenocortical carcinoma (ACC) is a rare and aggressive cancer with limited therapeutic options for patients with advanced disease. In adults, the majority of ACC are sporadic; however, it is recognized that a subset of ACC is associated with Lynch syndrome, an autosomal dominant tumor syndrome caused by pathogenic mutations of DNA mismatch repair (MMR) genes ( MSH2, MSH6, PMS2 , and MLH1 ) [1], [2]. MMR-deficient tumors possess a high somatic mutation burden and present a diverse repertoire of neoantigens which in turn enhances tumor immunogenicity and thus tumor-specific T cell responses.…”
Section: Introductionmentioning
confidence: 99%
“…ACC tumours demonstrate mismatch repair deficiency. If TP53 testing is negative in ACC, MMR testing could be utilised to screen cases for LS [80]. At present, surveillance of ACC in LS is not recommended.…”
Section: Lynch Syndromementioning
confidence: 99%