Zhong Juan, Yang Lei
Department of Oncology, Hubei Province Women and Children Hospital, Wuhan, China.
Hubei Cancer Clinical Study Center, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital, Wuhan University, Wuhan, China; Department of Radiation Oncology & Medical Oncology, Zhongnan Hospital, Wuhan University, Wuhan, China.
Int J Surg Case Rep. 2024 Apr;117:109478. doi: 10.1016/j.ijscr.2024.109478. Epub 2024 Mar 6.
Choriocarcinoma is a rapidly progressive, widely metastatic, β-human chorionic gonadotropin (β-hCG)-secreting malignant tumor originating from trophoblast cells. Most choriocarcinomas are pregnancy-related. Choriocarcinoma of nonpregnant origin is very rare.
A 60-year-old woman underwent abdominopelvic resection (APR) for low rectal cancer in May 2020. Postoperative pathological findings showed a poorly differentiated adenocarcinoma. Because of a post-operative recurrence, then she underwent chemotherapy for rectal adenocarcinoma. In February 2021, imaging finding showed metastases in her liver, both lungs and pelvis. Surprisingly, the β-hCG level was significantly elevated. A transvaginal pelvic tumor biopsy was performed and the pathology report was presented after discussions: choriocarcinoma differentiated carcinoma was considered, with no adenocarcinoma component detected. Then the patient underwent chemotherapy regimens for choriocarcinoma, which were initially effective but quickly became resistant. The patient died 8 months after the diagnosis of adenocarcinoma of the rectum transformed into choriocarcinoma.
The dedifferentiation of adenocarcinoma to choriocarcinoma is rarely diagnosed and the disease is often overlooked, leading to delays in diagnosis and treatment, documenting cases and their clinical outcomes is important for future research and to improve patient prognosis. Perhaps genomic assessment using next-generation sequencing (NGS) technology could help in diagnosis and guide therapeutic strategies.
We report a very rare case of non-pregnant choriocarcinoma transformed from primary rectal adenocarcinoma. Awareness of secondary biopsies in special cases and genetic testing based on the dynamics of the disease should be raised in clinical practice to better develop precise treatment plans.
绒毛膜癌是一种起源于滋养层细胞的、快速进展、广泛转移且分泌β-人绒毛膜促性腺激素（β-hCG）的恶性肿瘤。大多数绒毛膜癌与妊娠相关。非妊娠起源的绒毛膜癌非常罕见。
一名60岁女性于2020年5月因低位直肠癌接受了腹盆腔切除术（APR）。术后病理结果显示为低分化腺癌。由于术后复发，她随后接受了直肠癌化疗。2021年2月，影像学检查发现其肝脏、双肺和盆腔有转移。令人惊讶的是，β-hCG水平显著升高。进行了经阴道盆腔肿瘤活检，经讨论后给出病理报告：考虑为绒毛膜癌分化型癌，未检测到腺癌成分。随后患者接受了绒毛膜癌化疗方案，最初有效但很快产生耐药。患者在直肠癌转化为绒毛膜癌诊断后8个月死亡。
腺癌向绒毛膜癌的去分化很少被诊断出来，这种疾病常被忽视，导致诊断和治疗延迟，记录病例及其临床结果对于未来研究和改善患者预后很重要。也许使用下一代测序（NGS）技术进行基因组评估有助于诊断并指导治疗策略。
我们报告了一例非常罕见的由原发性直肠腺癌转化而来的非妊娠绒毛膜癌病例。临床实践中应提高对特殊情况下二次活检的认识以及基于疾病动态变化的基因检测，以更好地制定精准治疗方案。
