Objective: Adrenocortical carcinoma (ACC) is a rare malignancy with poor prognosis. ACC was reported in 3.2% patients with Lynch syndrome (LS), however no particular case-detection strategies have been recommended.
Participants: We report a case of a 65-year-old woman who was incidentally discovered with a large adrenal mass during work-up of postmenopausal uterine bleeding. She was recently diagnosed with germline mutation after her sister presented with uterine carcinoma in the setting of LS.
Results: Whereas the patient was asymptomatic for overt hormonal excess, biochemical work-up confirmed glucocorticoid autonomy and androgen and estrogen excess. Urine steroid profiling was suggestive of ACC. Adrenalectomy confirmed an oncocytic ACC with focal extracapsular extension into the periadrenal adipose tissue with a Ki-67 of 15% and a peak mitotic count of 40/50 high-power fields.
Conclusion: ACC can be the only manifestation of LS. A best case-detection approach for ACC in the asymptomatic patient with LS is unclear, however urine steroid profiling could be considered.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446885 | PMC |
| http://dx.doi.org/10.1210/js.2019-00050 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant.
Mol Genet Genomic Med
January 2025
Department of General Surgery, The Fourth Affiliated Hospital, China Medical University, Shenyang, Liaoning, China.
Background: Lynch syndrome (LS) is an autosomal-dominant disorder that increases the risk of many cancers. To identify novel or rare pathogenic variants of MMR genes associated with LS, especially in Chinese pedigrees.
Methods: One four-generation Chinese Han family from northeast China with 29 members was enrolled.
Sarcomas developed in patients with Lynch Syndrome are enriched in pleomorphic soft-tissue sarcomas and are sensitive to immunotherapy.
Eur J Cancer
December 2024
Department of Digestive Medical Oncology, Toulouse University Hospital, Toulouse, France; Toulouse Cancer Research Centre, Toulouse, France; Department of Oncogenetics, Oncopole Claudius Regaud, Toulouse, France; Groupe Génétique et Cancer, Unicancer, France. Electronic address:
Article Synopsis
- Sarcomas are not typically associated with Lynch Syndrome (LS), but recent literature suggests a connection, prompting a national study to investigate their characteristics in LS patients.
- The SarcLynch study included 81 patients, finding that 83% had soft-tissue sarcomas, particularly pleomorphic variants like undifferentiated pleomorphic sarcoma and pleomorphic rhabdomyosarcoma, with 40% having sarcoma as their first cancer event.
- Results showed a high prevalence of mismatch repair deficiency and promising responses to immune checkpoint inhibitors, suggesting the need for screening and potential immunotherapy for these sarcomas.
Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother.
Front Med (Lausanne)
December 2024
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.
Lynch Syndrome (LS) is a hereditary disorder characterized by genetic mutations in DNA mismatch repair genes, affecting approximately 0.35% of the population. LS primarily increases the risk of colorectal cancer (CRC), as well as various other cancer types like endometrial, breast, and gastric cancers.
View Article and Find Full Text PDFAltered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFFactors influencing the colorectal surveillance adherence in Lynch Syndrome: A retrospective monocentric study.
Tumori
December 2024
Hereditary Digestive Tract Tumors Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!