研究动态
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混合性妊娠滋养细胞肿瘤具有挑战性的临床病理学表现。

Mixed Gestational Trophoblastic Tumors-Challenging Clinicopathological Presentations.

发表日期:2024 Jun 26
作者: Na Niu, Natalia Buza, Pei Hui
来源: Immunity & Ageing

摘要:

混合性妊娠滋养细胞肿瘤极为罕见,且临床病理表现各异。我们报告了 3 种此类肿瘤,其中包括绒毛膜癌 (CC)、胎盘部位滋养细胞肿瘤 (PSTT) 和上皮样滋养细胞肿瘤 (ETT)。患者年龄从38岁到44岁不等。最初诊断时未考虑混合性滋养细胞肿瘤,所有 3 个肿瘤均通过 DNA 基因分型证明为妊娠起源。 1 号患者的血清人绒毛膜促性腺激素 (hCG) 为 97 mIU/mL,宫颈肿块大小为 5.6 厘米,活检结果最初被解释为 PSTT。子宫切除术显示混合性 PSTT (60%) 和 ETT (40%),仅包含 ETT 成分的宫外转移。多药化疗后 15 个月,肿瘤复发,程序性死亡配体 1 检测呈阳性。患者接受免疫检查点抑制剂治疗,24 个月后保持无病状态。 2 号患者出现阴道出血,血清 hCG 为 46,458 mIU/mL。子宫内膜活检被解释为CC。基于甲氨蝶呤的化疗后,子宫和肺部出现复发。经会诊审查,最终诊断出混合性CC和ETT。 3 号患者出现完全性葡萄胎,血清 hCG 为 744,828 mIU/mL。甲氨蝶呤、放线菌素 D 治疗三个月后,发现子宫肿块。子宫切除术显示混合 CC 和 PSTT。总之,混合滋养细胞肿瘤的罕见性、难以捉摸的表现和广泛的组织学特征使得其诊断极具挑战性。临床治疗和预后取决于肿瘤的每个组成部分。当患者血清 hCG 水平较高时,必须考虑 CC 成分。版权所有 © 2024,国际妇科病理学家协会所有。
Mixed gestational trophoblastic tumors are exceptionally rare and have variable clinicopathological presentations. We report 3 such tumors with different combinations of choriocarcinoma (CC), placental site trophoblastic tumor (PSTT), and epithelioid trophoblastic tumor (ETT). The patients' age ranged from 38 to 44 years. Mixed trophoblastic tumor was not considered at the initial diagnosis and all 3 tumors were proven of gestational origin by DNA genotyping. Patient #1 presented with serum human chorionic gonadotropin (hCG) of 97 mIU/mL and a 5.6-cm cervical mass that was initially interpreted as PSTT on biopsy. Hysterectomy revealed a mixed PSTT (60%) and ETT (40%) with extrauterine metastases of only the ETT component. The tumor recurred 15 months after a multiagent chemotherapy and was tested positive for programmed death-ligand 1. The patient received immune checkpoint inhibitor therapy and remained disease-free after 24 months. Patient #2 presented with vaginal bleeding and serum hCG of 46,458 mIU/mL. An endometrial biopsy was interpreted as CC. Recurrence developed in the uterus and lung after methotrexate-based chemotherapy. A mixed CC and ETT were eventually diagnosed upon consultation review. Patient #3 presented with a complete hydatidiform mole and serum hCG of 744,828 mIU/mL. Three months after methotrexate, followed by actinomycin D therapy, a uterine mass was found. Hysterectomy revealed a mixed CC and PSTT. In conclusion, the rarity, elusive presentation, and wide range of histology make the diagnosis of mixed trophoblastic tumors highly challenging. The clinical management and prognosis are dictated by each component of the tumor. CC component must be considered when the patient presents with a high serum hCG level.Copyright © 2024 by the International Society of Gynecological Pathologists.