Related Experiment Video
Updated: Nov 30, 2025
Characterization of Cell Membrane Extensions and Studying Their Roles in Cancer Cell Adhesion Dynamics
Published on: March 26, 2018
Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome
Marta Domènech1,2, Elia Grau1,3, Ares Solanes1,3
1Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomédica de Bellvitge (IDIBELL), ONCOBELL Program, Hospitalet de Llobregat, Barcelona, Spain.
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 <2 cases/million individuals/year. Most ACC developed during childhood are associated with hereditary syndromes. In adults, this association is not as well established as in children. Previous studies showed a 3.2% prevalence of LS among patients with ACC.
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.
More Related Videos
10:21Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma
Published on: September 20, 2024
11:15Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Related Concept Videos
01:27Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
02:39lncRNA - Long Non-coding RNAs
01:27Sympathetic Pathways: Collateral Ganglia and Adrenal Medulla
Collateral Ganglia
Sympathetic preganglionic axons reach the collateral ganglia along the route of splanchnic nerves. These nerves bypass the sympathetic trunk and communicate with sympathetic postganglionic neurons housed in the prevertebral ganglia. These ganglia supply the organs of the abdominopelvic cavity.
The greater splanchnic nerve, formed by the...
02:53Adaptive Mechanisms in Cancer Cells
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
02:23Abnormal Proliferation