Session: OR35-Neoplasia of Endocrine Tissues
Bench to Bedside
Room 122 (Moscone Center)
Objective/ Method: Our objective was to compare clinical characteristics and outcomes of the SDHB-related PHEOs/PGLs in the first generation with the index patients. Charts of parents and their children with SDHB mutations were carefully reviewed.
Results: A total number of 9 families with SDHB mutations were found to have PHEOs/PGLs in the first generation. In 8 out of 9 families PHEOs/PGLs were diagnosed 25-34 years earlier than in their parents, regardless of their gender. In one family the son was diagnosed 4 years later than his father, but he had metastatic disease at the time of diagnosis at age 29, unlike his father who had only recurrent disease at age 29, and is disease free at age 66. In 5 out of 9 families the first generation offspring developed metastatic disease (4 of them within one year of diagnosis), unlike their parents, who developed metastases in only 2 out of 9 families. In 1 family where both father and son developed metastatic disease, the father had metastases 4 years after diagnosis, unlike his son, who was metastatic at the time of the diagnosis.
Conclusion: The present results are suggestive of genetic anticipation in SDHB-related PHEOs/PGLs. These novel results set the basis for future studies that will explore this phenomenon in order to call for new recommendations regarding the diagnostic work-up and follow-up of children of parents presenting with SDHB-related PHEOs/PGLs.
Nothing to Disclose: TP, VLM, MR, MBL, KTA, CAS, TF, KP
*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm
See more of: Abstracts - Orals, Featured Poster Presentations, and Posters