POLE-mutated clear cell cervical cancer associated with in-utero diethylstilbestrol exposure
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 o...
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| Main Authors: | , , , |
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| Format: | Book |
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Elsevier,
2019-05-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. Keywords: Clear cell cancer, POLE mutation, DES exposure in utero, Cervical cancer, PD-L1 expression, Immunogenicity |
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| Item Description: | 2352-5789 10.1016/j.gore.2019.01.012 |