Lin Jietao, Cao Yang, Yu Ling, Lin Lizhu
Oncology Center, the First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, China.
Medicine (Baltimore). 2018 Sep;97(39):e12336. doi: 10.1097/MD.0000000000012336.
Adrenal hepatoid adenocarcinoma typically secretes alpha-fetoprotein (AFP). Here, we report a case of non-AFP-producing adrenal hepatoid adenocarcinoma. Next-generation sequencing (NGS) was conducted to identify gene mutations.
A 64-year-old man presented with mild back pain and unexplained weight loss for 3 months.
Contrast-enhanced magnetic resonance imaging (MRI) showed a mass (9.9 × 9.7 × 9.1 mm) above the upper pole of the left kidney. The left renal artery and vein were compressed. The tumor was positive for CK8/18, CK19, CK7, hepatocyte marker (Hepatocyte), and Hep Par 1, but negative for AFP. Plasma AFP was 2.75 ng/mL (normal range: 0-7 ng/mL). NGS revealed mutations of the following genes: ATM, CDKN2A, EGFR, STK11, TP53, BIM, and MLH1. A diagnosis of adrenal hepatoid adenocarcinoma was established.
The treatment included 4 cycles of the mFOLFOX6 regimen (oxaliplatin, leucovorin, and fluorouracil), transcatheter arterial chemoembolization, and apatinib.
The patient died 9 months after the diagnosis.
This case highlights the importance of thorough clinical, radiological, and immunohistochemical investigation for suspected adrenal hepatoid adenocarcinoma. Metastasis from other primary tumors should be ruled out. Furthermore, AFP is not necessarily elevated in adrenal hepatoid adenocarcinoma. NGS could be helpful in establishing the diagnosis and selecting treatments.
肾上腺肝样腺癌通常分泌甲胎蛋白(AFP)。在此,我们报告一例不产生AFP的肾上腺肝样腺癌病例。进行了二代测序(NGS)以鉴定基因突变。
一名64岁男性,出现轻度背痛和不明原因体重减轻3个月。
增强磁共振成像(MRI)显示左肾上极上方有一肿块(9.9×9.7×9.1mm)。左肾动静脉受压。肿瘤CK8/18、CK19、CK7、肝细胞标志物(Hepatocyte)和Hep Par 1呈阳性,但AFP呈阴性。血浆AFP为2.75ng/mL(正常范围:0 - 7ng/mL)。NGS显示以下基因发生突变:ATM、CDKN2A、EGFR、STK11、TP53、BIM和MLH1。确诊为肾上腺肝样腺癌。
治疗包括4个周期的mFOLFOX6方案(奥沙利铂、亚叶酸钙和氟尿嘧啶)、经动脉化疗栓塞和阿帕替尼。
患者在诊断后9个月死亡。
该病例强调了对疑似肾上腺肝样腺癌进行全面临床、影像学和免疫组化检查的重要性。应排除其他原发性肿瘤的转移。此外,肾上腺肝样腺癌中AFP不一定升高。NGS有助于确诊和选择治疗方案。