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Case Reports
. 2021 Apr;185(4):1282-1287.
doi: 10.1002/ajmg.a.62099. Epub 2021 Feb 21.

Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET

Margarita Raygada  1 , Mark Raffeld  2 , Andrew Bernstein  3 , Markku Miettinen  2 , John Glod  1 , Marybeth S Hughes  4 , Karlyne Reilly  1 , Brigitte Widemann  1 , Jaydira Del Rivero  5
Affiliations
Case Reports

Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET

Margarita Raygada et al. Am J Med Genet A. 2021 Apr.

Abstract

Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li-Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. We present here a case of ACC with both LS and MEN2A; the family and medical history were consistent with Lynch. This is, to our knowledge, the first report of a patient with ACC associated with germline mutations in RET and MSH2, and no phenotypical characteristics of MEN2A.

Keywords: Lynch syndrome; adrenocortical cancer; multiple endocrine neoplasia type 2A.

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Conflict of interest statement

The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Figures

FIGURE 1
FIGURE 1
RET mutation identified in the proband (p.Val804Met) [Color figure can be viewed at wileyonlinelibrary.com]
FIGURE 2
FIGURE 2
MSH2 mutation identified in the proband (c.211+1G>T) [Color figure can be viewed at wileyonlinelibrary.com]
FIGURE 3
FIGURE 3
Adrenocortical carcinoma is composed of sheets of large epithelioid cells with pale to eosinophilic cytoplasm and nuclear pleomorphism (magnification 200×) [Color figure can be viewed at wileyonlinelibrary.com]
FIGURE 4
FIGURE 4
Four‐generation family history pedigree [Color figure can be viewed at wileyonlinelibrary.com]
See this image and copyright information in PMC

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References

    1. Baudin, E. (2015). Adrenocortical carcinoma. Endocrinology and Metabolism Clinics of North America, 44(2), 411–434. 10.1016/j.ecl.2015.03.001 - DOI - PubMed
    1. Brauckhoff, M. , Gimm, O. , Hinze, R. , Ukkat, J. , Brauckhoff, K. , & Dralle, H. (2002). Papillary thyroid carcinoma in patients with RET proto‐oncogene germline mutation. Thyroid, 12(7), 557–561. 10.1089/105072502320288393 - DOI - PubMed
    1. Challis, B. G. , Kandasamy, N. , Powlson, A. S. , Koulouri, O. , Annamalai, A. K. , Happerield, L. , … Gurnell, M. (2016). Familial adrenocortical carcinoma in association with Lynch syndrome. Journal of Clinical Endocrinology & Metabolism, 101(6), 2269–2272. 10.1210/jc.2016-1460 - DOI - PMC - PubMed
    1. Cohen, S. , & Leininger, A. (2014). The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Application of Clinical Genetics, 7, 147–158. 10.2147/tacg.s51483 - DOI - PMC - PubMed
    1. Dvorakova, S. , Vaclavikova, E. , Sykorova, V. , Duskova, P. , Vlcek, P. , Novak, Z. , & Bendlova, B. (2006). New multiple somatic mutations in the RET proto‐oncogene associated with a sporadic medullary thyroid carcinoma. Thyroid, 16, 311–316. 10.1089/thy.2006.16.311 - DOI - PubMed

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