2019 Study Highlights
- We report a POLE-mutated clear cell cervical cancer associated with in-utero DES.
- Tumor exhibited increased tumor infiltrating lymphocytes and PD-L1 expression.
- Patient remains in remission for ≥4 years after standard therapy.
- POLE mutation confers a phenotype of higher immunogenicity and improved outcome.
We report an extraordinary case of a woman, exposed to diethylstilbestrol in utero, who developed clear cell adenocarcinoma of the cervix with a concurrent polymerase-Ɛ (POLE) somatic mutation. The tumor exhibited the classic phenotypic characteristics of POLE-mutated tumors originating from other organs (e.g. the uterus or the colon) including increased tumor infiltrating lymphocytes and high PD-L1 expression and has remained in remission since completion of primary therapy for >4 years. This case highlights the importance of next generation sequencing in unraveling the biology of rare tumors and supports that the presence of a POLE mutation and the associated ultramutated state confers a unique phenotype of higher immunogenicity and possibly improved prognosis in a tissue-agnostic manner, i.e. regardless of the type of cancer where the POLE mutation is present. Image credit bioinfo.
DES DiEthylStilbestrol Resources
- DES studies on cancers and screening.
- DES studies on epigenetics and transgenerational effects.
- DES studies on fertility and pregnancy.
- DES studies on gender identity and psychological health.
- DES studies on in-utero exposure to DES and side-effects.
- DES studies on the genital tract.
- Papers on DES lawsuits.
- DES videos and posts tagged DES, the DES-exposed, DES victims.