학술논문
Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome
Mini-Review
Mini-Review
Document Type
Clinical report
Author
Source
Journal of Clinical Endocrinology & Metabolism. February 2021, Vol. 106 Issue 2, p318, 8 p.
Subject
Language
English
ISSN
0021-972X
Abstract
Adrenocortical carcinoma (ACC) is an uncommon endocrine cancer that has an aggressive course. ACC has an incidence of 0.5 to 2 cases per million individuals per year (1). According to [...]
Context: Lynch syndrome (LS) is the most common inherited colorectal and endometrial cancer syndrome, caused by germline mutations in DNA mismatch repair (MMR) genes. It is also characterized by an increased risk of other tumors with lower prevalence, such as adrenal cortical carcinoma (ACC), an endocrine tumor with an incidence of Evidence Acquisition: The objective of this study is to determine the prevalence of ACC in a Spanish LS cohort and their molecular and histological characteristics. This retrospective study includes 634 patients from 220 LS families registered between 1999 and 2018. Evidence Synthesis: During the follow-up period, 3 patients were diagnosed with ACC (0.47%); all were carriers of a MSH2 germline mutation. The 3 ACC patients presented loss of expression of MSH2 and MSH6 proteins. One tumor analysis showed loss of heterozygosity of the MSH2 wildtype allele. Our findings support previous data that considered ACC as a LS spectrum tumor. Conclusion: MMR protein immunohistochemistry screening could be an efficient strategy to detect LS in patients with ACC. Key Words: Lynch syndrome, adrenocortical carcinoma, molecular characteristics
Context: Lynch syndrome (LS) is the most common inherited colorectal and endometrial cancer syndrome, caused by germline mutations in DNA mismatch repair (MMR) genes. It is also characterized by an increased risk of other tumors with lower prevalence, such as adrenal cortical carcinoma (ACC), an endocrine tumor with an incidence of Evidence Acquisition: The objective of this study is to determine the prevalence of ACC in a Spanish LS cohort and their molecular and histological characteristics. This retrospective study includes 634 patients from 220 LS families registered between 1999 and 2018. Evidence Synthesis: During the follow-up period, 3 patients were diagnosed with ACC (0.47%); all were carriers of a MSH2 germline mutation. The 3 ACC patients presented loss of expression of MSH2 and MSH6 proteins. One tumor analysis showed loss of heterozygosity of the MSH2 wildtype allele. Our findings support previous data that considered ACC as a LS spectrum tumor. Conclusion: MMR protein immunohistochemistry screening could be an efficient strategy to detect LS in patients with ACC. Key Words: Lynch syndrome, adrenocortical carcinoma, molecular characteristics