原发性颅内生殖细胞瘤误诊为垂体炎临床分析

Misdiagnosis of Intracranial Germinoma as Hypophysitis

目的:分析和总结误诊为垂体炎的原发性颅内生殖细胞瘤的临床特点,以减少误诊误治。方法:回顾性分析1998年1月至2018年6月期间于中国人民解放军总医院收治的14例外院误诊为垂体炎,而经手术病理证实或行诊断性放疗证实为生殖细胞瘤病例,总结其临床表现、生化、影像学、误诊原因。结果:(1)一般资料:14例患者中,男7例,女7例,男女比例1:1。年龄11～40(21.3±7.7)岁,年龄分布为11～15岁3例,16～20岁4例,21～25岁3例,26～30岁3例,大于30岁1例。(2)临床表现:病程6月～6年,平均病程为23.6月。颅高压症状占57%(8/14),视神经受累43%(6/14),肾上腺皮质轴受累42%(5/12),甲状腺轴受累43%(6/14),生长激素受累77%(10/13),性腺轴受累86%(12/14),尿崩症占93%(13/14),43%(6/14)患者表现为乏力,女性多以闭经为首发症状(4/7),男性多以尿崩为首发症状(6/7)。(3)生化检测:10例患者行腰椎穿刺,7例患者脑脊液HCG大于0.5IU/L,9例患者脑脊液HCG与血清HCG比值大于1.78。所有行腰穿患者脑脊液、血清AFP、CEA均正常。4例未行腰穿患者血清β-HCG、AFP、CEA均正常。(4)影像学特点:仅鞍区占位7%(1/14),仅累及鞍上29%(4/14),双灶病变占43%(6/14),多灶病变占21%(3/14)。79%(11/14)病灶边界清晰,93%(13/14)无硬脑膜强化,86%(12/14)呈T1WI、T2WI等信号,14%(2/14)呈稍长T1、稍长T2信号,100%(14/14)均可被强化,其中明显强化占71%(10/14),4例中度强化。86%(12/14)垂体柄增粗,93%(13/14)垂体后叶高信号消失。(5)误诊:14%(2/14)被误诊为肉芽肿性垂体炎,86%(12/14)被误诊为淋巴细胞性垂体炎,误诊时间1～4(2.7±1.2)月不等。42.9%(6/14)经手术病理确诊为生殖细胞瘤,病理表现为色泽多样(灰白、灰红、灰褐等),质地不一(质软、质中),大多数有淋巴细胞背景(5/6),肿瘤细胞呈大圆形,核仁明显,胞浆透亮。57.1%(8/14)患者经临床表现、影像学结合放疗最终临床诊断为生殖细胞瘤。(6)治疗方案:放疗+化疗(8/14),放疗+化疗+手术(6/14),接受上述处理后均好转。结论:颅内生殖细胞瘤易误诊为垂体炎,可通过临床表现、生化学、影像学及组织病理减少误诊率。

Objective： To analyze and summarize the clinical features of primary intracranial germinoma which were misdiagnosed as hypophysitis,so as to reduce misdiagnosis and mistreatment. Methods： A retrospective analysis of 14 cases of intracranial germinoma diagnosed by pathology or the reaction to radiotherapy misdiagnosed as hypophysitis in other hospitals and admitted to Chinese PLA General Hospital between January 1998 to June 2018 was performed. Results： ① General material： There were 7 males and 7 females. The age ranged from 11 to 40y （21.3±7.7y） , 3 cases range from 11 to 15y, 4 cases range from 16 to 20y, 3 cases range from 21 to 25y, 3 cases range from 26 to 30y, 1 case older than 30y, respectively. ②Clinical features： The course of germinoma ranged from 6 to 72 months, and the average duration were 23.6 months. Cranial hypertension symptoms accounted for 57% （8/14）, optic nerve involvement 43% （6/14）, adrenal cortical axis involvement 42% （5/12）, thyroid axis involvement 43% （6/14）, growth hormone involvement 77% （10/13）, gonadal axis involvement 86% （12/14）, diabetes insipidus accounted for 93% （13/14）, 43% （6/14） patients showed fatigue, most women with amenorrhea as the rst manifestation. Symptoms （4/7）, male diabetes insipidus is the rst symptom （6/7）. ③Biochemical tests： 10 patients underwent lumbar puncture, 7 patients had CSF HCG greater than 0.5 IU/L, 9 patients had CSF and serum HCG ratio greater than 1.78. CSF and serum AFP and CEA were normal in patients underwent lumbar puncture. Serum HCG, AFP and CEA levels were normal in 4 patients without lumbar puncture. ④Imaging features： 7% （1/14） of the lesions were located in the sellar region, 29% （4/14） in the suprasellar region, 43% （6/14） were bilateral lesions and 21% （3/14） were multifocal lesions. 79% （11/14） had clear boundary, 93% （13/14） had no dural enhancement, 86% （12/14） had isointense T1WI and T2WI signals, 14% （2/14） had slightly hyperintense T1 and slightly hyperintense T2 signals, and 100% （14/14） could be enhanced, of which 71% （10/14） had obvious enhancement and 4 had moderate enhancement. 12 cases pituitary stalk were found thickened and 13 cases with Posterior pituitary signal disappeared. ⑤Misdiagnosis： 2 cases were misdiagnosed as granulomatous hypophysitis, and 86% （12/14） were misdiagnosed as lymphocytic hypophysitis. The misdiagnosis course ranged from 1 to 4 months. 42.9% were diagnosed as germinoma by histopathology, 8 cases were diagnosed as germinoma by clinical manifestation, imaging and the reaction to radiotherapy. ⑥Treatment： 6 cases received radiotherapy plus chemotherapy, while 8 patients received radiotherapy plus chemotherapy and operation, and all patients were improved after receiving the treatment. Conclusion： Intracranial germinoma can easily be misdiagnosed as hypophysitis, and the misdiagnosis rate will reduce through the clinical manifestations, biochemistry, imaging and histopathology.