The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type

Tanja Pejovic; W Glenn McCluggage; Adam J Krieg; Fuhua Xu; David M Lee; Leora Witkowski; William D Foulkes

doi:10.1016/j.gore.2019.02.002

The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type

Gynecol Oncol Rep. 2019 Feb 17:28:47-49. doi: 10.1016/j.gore.2019.02.002. eCollection 2019 May.

Authors

Tanja Pejovic¹, W Glenn McCluggage², Adam J Krieg¹, Fuhua Xu¹, David M Lee¹, Leora Witkowski^{3

4}, William D Foulkes⁴

Affiliations

¹ Department of Obstetrics & Gynecology, Oregon Health & Science University, Portland, OA, United States of America.
² Dept of Pathology, Belfast Health and Social Care Trust, Belfast, United Kingdom.
³ Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States of America.
⁴ Department of Human Genetics, McGill University, Montreal, QC, Canada.

Abstract

•New pathogenic familial SMARCA4 variant, c.3081+1G>T.•Prophylactic surgery in healthy carrier of germline SMARCA4 mutation.•Long term hormone therapy in a 13-year-old girl.

Keywords: BRG1 protein; Prophylactic oophorectomy; SMARCA4 gene; Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Publication types

Case Reports