Lee Elizabeth K, Lindeman Neal I, Matulonis Ursula A, Konstantinopoulos Panagiotis A
Division of Gynecologic Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Gynecol Oncol Rep. 2019 Jan 29;28:15-17. doi: 10.1016/j.gore.2019.01.012. eCollection 2019 May.
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 () somatic mutation. The tumor exhibited the classic phenotypic characteristics of -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 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 mutation is present.
我们报告了一例非同寻常的病例，一名女性在子宫内接触过己烯雌酚，她患了宫颈透明细胞腺癌，同时伴有聚合酶Ɛ（）体细胞突变。该肿瘤表现出源自其他器官（如子宫或结肠）的Ɛ突变肿瘤的典型表型特征，包括肿瘤浸润淋巴细胞增加和程序性死亡受体配体1（PD-L1）高表达，自完成初始治疗后已缓解超过4年。该病例突出了下一代测序在阐明罕见肿瘤生物学方面的重要性，并支持Ɛ突变及相关的超突变状态赋予了一种独特的、具有更高免疫原性的表型，且可能以一种不依赖组织类型的方式改善预后，即无论Ɛ突变存在于何种癌症类型中。
