Details

Autor(en) / Beteiligte

• Mathiesen, Jes Sloth
• Nielsen, Søren Grønlund
• Rasmussen, Åse Krogh
• Kiss, Katalin
• Wadt, Karin
• Hermann, Anne Pernille
• Nielsen, Morten Frost
• Larsen, Stine Rosenkilde
• Brusgaard, Klaus
• Frederiksen, Anja Lisbeth
• Godballe, Christian
• Rossing, Maria

Titel

Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients

Ist Teil von

• Frontiers in endocrinology (Lausanne), 2020-04, Vol.11, p.251

Ort / Verlag

Switzerland: Frontiers Media S.A

Erscheinungsjahr

2020

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• Previous studies have suggested that the variability in age of onset and aggressiveness of medullary thyroid carcinoma (MTC) in patients with multiple endocrine neoplasia type 2A (MEN 2A) carrying the same arranged during ransfection ( ) mutation may be caused by additional germline variants or somatic variants. This study was a retrospective case comparison study of all MEN 2A index patients ( = 2) with the L790F germline mutation in Denmark. Whole blood and MTC tissue were analyzed for germline variants and other somatic variants (>500), respectively. Patient 1 presented with MTC (T1aN1bM0) at age 14 years, while patient 2 presented with MTC (T1bN0M0) at age 70 years. No germline germline variants nor other variants were found to explain this MTC variability. We could not confirm the previously reported finding of a somatic variant as likely responsible for the early onset and aggressiveness of MTC in a germline mutation carrier. Also, we found no germline variants that could explain the MTC variability among our index patients. We did, however, identify a somatic R387Q variant with an unknown potential as genetic modifier. Further large-scale studies are needed to investigate genetic modifiers in L790F carriers.