promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of gene?

Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.

Advances in breast cancer risk modeling: integrating clinics, imaging, pathology and artificial intelligence for personalized risk assessment.

Breast cancer risk models represent the likelihood of developing breast cancer based on risk factors. They enable personalized interventions to improve screening programs. Radiologists identify mammographic density as a significant risk factor and test new imaging techniques.

Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?

We describe the case of a patient with a clinical and molecular diagnosis of Beckwith-Wiedemann Syndrome (BWS) and a clinical, radiologic and histologic diagnosis of colon isolated hypoganglionosis. BWS is a genetic multisystem disorder characterized by generalized and lateralized overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia and predisposition to embryonal tumors (Brioude et al., Nat Rev Endocrinol 1998; 14:229-249).

Diagnostic Performances of the ACR-TIRADS System in Thyroid Nodules Triage: A Prospective Single Center Study.

Ultrasound scores are used to determine whether thyroid nodules should undergo Fine Needle Aspiration (FNA) or simple clinical follow-up. Different scores have been proposed for this task, with the American College of Radiology (ACR) TIRADS system being one of the most widely used. This study evaluates its ability in triaging thyroid nodules deserving FNA on a large prospective monocentric Italian case series of 493 thyroid nodules from 448 subjects.