Hsiue Emily Han-Chung, Hsu Chiun, Tseng Li-Hui, Lu Tzu-Pin, Kuo Kuan-Ting
Departments of Oncology (E.H.-C.H., C.H.) Medical Genetics (L.H.T.) Pathology (K.-T.K.), National Taiwan University Hospital Graduate Institute of Oncology, National Taiwan University College of Medicine (C.H.) National Taiwan University Cancer Center (C.H.) Department of Public Health, Institute of Epidemiology and Preventive Medicine, National Taiwan University (T.-P.L.), Taipei, Taiwan.
Int J Gynecol Pathol. 2017 Nov;36(6):562-567. doi: 10.1097/PGP.0000000000000366.
Epithelioid trophoblastic tumor (ETT) is a rare chemoresistant gestational trophoblastic neoplasm that typically presents as an intrauterine lesion. To our knowledge, no isolated abdominal wall ETT around a Cesarean scar has been reported. Here we describe a 54-yr-old woman with a complex obstetric history who presented with a solitary abdominal wall tumor adjacent to the abdominal Cesarean section scar. The tumor demonstrated typical morphologic and immunophenotypic features of ETT. The gestational origin of the tumor was confirmed by microsatellite genotyping. The tumor enlarged despite the patient undergoing multiagent chemotherapy. Whole-exome sequencing was performed to explore the mechanisms underlying chemoresistance. The ATP-binding cassette subfamily B member 1 (ABCB1) 3435CC genotype, and a putative deleterious x-ray cross-complementing group 4 (XRCC4) Ala73Pro mutations were found. In conclusion, ETT may present as a solitary abdominal wall lesion and microsatellite genotyping could facilitate the determination of its gestational origin. More studies are required to provide mechanistic insights into the chemoresistance of ETT.
上皮样滋养细胞肿瘤（ETT）是一种罕见的化疗耐药性妊娠滋养细胞肿瘤，通常表现为子宫内病变。据我们所知，尚未有剖宫产瘢痕周围孤立性腹壁ETT的报道。在此，我们描述了一名有复杂产科病史的54岁女性，她在腹部剖宫产瘢痕旁出现了一个孤立的腹壁肿瘤。该肿瘤表现出ETT典型的形态学和免疫表型特征。通过微卫星基因分型证实了肿瘤的妊娠起源。尽管患者接受了多药化疗，肿瘤仍持续增大。进行了全外显子测序以探究化疗耐药的潜在机制。发现了ATP结合盒亚家族B成员1（ABCB1）3435CC基因型以及一个推定的有害X射线交叉互补组4（XRCC4）Ala73Pro突变。总之，ETT可能表现为孤立的腹壁病变，微卫星基因分型有助于确定其妊娠起源。需要更多研究来深入了解ETT化疗耐药的机制。
