AUTHOR=Vallera Raphaelle D. , Ding Yanli , Hatanpaa Kimmo J. , Bishop Justin A. , Mirfakhraee Sasan , Alli Abdel A. , Tevosian Sergei G. , Tabebi Mouna , Gimm Oliver , Söderkvist Peter , Estrada-Zuniga Cynthia , Dahia Patricia L. M. , Ghayee Hans K. 

TITLE=Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2022.1024108

DOI=10.3389/fendo.2022.1024108

ISSN=1664-2392

ABSTRACT=Two sisters carrying a germline CHEK2 variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis. The siblings have a germline CHEK2 mutation and developed distinct endocrine tumors. One sister had pituitary adenoma and pancreatic neuroendocrine tumor (PNET). The other sibling had a pheochromocytoma (PCC). Although both pituitary adenomas and PCC have been associated with NF1 gene mutations, only the second sister with a PCC had proven germline CHEK2 along with a pathogenic somatic NF1 mutation. Unless the tumor DNA is sequenced, the real driver mutation that is causing the patient’s tumor may not be known.