原发性颅内生殖细胞瘤误诊为垂体炎临床分析
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摘要
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 40 y(21.3±7.7 y), 3 cases range from 11 to 15 y, 4 cases range from 16 to 20 y, 3 cases range from 21 to 25 y, 3 cases range from 26 to 30 y, 1 case older than 30 y, respectively.(2)Clinical 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 first manifestation. Symptoms(4/7), male diabetes insipidus is the first symptom(6/7).(3)Biochemical 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.(4)Imaging 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 T1 WI and T2 WI 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.(5)Misdiagnosis: 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.(6)Treatment: 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.
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 40 y(21.3±7.7 y), 3 cases range from 11 to 15 y, 4 cases range from 16 to 20 y, 3 cases range from 21 to 25 y, 3 cases range from 26 to 30 y, 1 case older than 30 y, respectively.(2)Clinical 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 first manifestation. Symptoms(4/7), male diabetes insipidus is the first symptom(6/7).(3)Biochemical 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.(4)Imaging 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 T1 WI and T2 WI 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.(5)Misdiagnosis: 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.(6)Treatment: 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.
引文
[1]Yoshizawa A,Yokoya S,Oyama K,et al.Elevated levels of human chorionic gonadotropin-beta,a marker of active neurohypophyseal germinoma,detected by immune complex transfer enzyme immunoassay[J].Pituitary,2004,7(3):165-169.
[2]Adhiyaman V,Alexander S.Cerebral hyperperfusion syndrome following carotid endarterectomy[J].Qjm,2007,100(4):239-244.
[3]方陆雄,徐书翔,朱明华,等.诊断性化疗在颅内生殖细胞瘤诊治中的应用[J].中华神经外科杂志,2013,29(10):984-986.
[4]Gutenberg A,Bell JJ,Lupi I,et al.Pituitary and systemic autoimmunity in a case of intrasellar germinoma[J].Pituitary,2011,14(4):388-394.
[5]Ganesh J,Sze CW,Margaret Z.Rapidly evolving hypopituitarism in a boy with multiple autoimmune disorders[J].J Paediatr Child Health,2013,49(9):783-785.
[6]Shunsuke Terasaka,Masahito Kawabori,Hiroyuki Kobayashi,et al.Neurohypophyseal germinoma with abundant fibrous tissue[J].Brain Tumor Pathol,2012,29(1):58-62.
[7]Marita F,Markus B,Dieter K,et al.Lymphocytic Hypophysitis Masking a Suprasellar Germinoma in a 12-year-old Girl-A Case Report[J].Brain Tumor Pathol,2012,29(1):58-62.
[8]Mariana G,Cristina B,Thiago A,et al.An intrasellar germinoma with normal tumor marker concentrations mimicking primary lymphocytic hypophysitis[J].Arq Bras Endocrinol Metabol,2013,57(7):566-570.
[9]Nese O,Altay S,Sinan T,et al.An intrasellar germinoma with normal cerebrospinal fluidβ-HCG concentrations misdiagnosed as hypophysitis[J].Hormones,2006,5(1):66-70.
[10]Yoko Mikami-Terao,Masaharu Akiyama,Takaaki Yanagisawa,et al.Lymphocytic hypophysitis with central diabetes insipidus and subsequent hypopituitarism masking a suprasellar germinoma in a 13-year-old girl[J].Childs Nerv Syst,2006,22(10):1338-1343.
[11]Takamasa Nishiuchi,Hitomi Imachi,Koji Murao,et al.Suprasellar Germinoma Masquerading As Lymphocytic Hypophysitis Associated With Central Diabetes Insipidus,Delayed Sexual Development,and Subsequent Hypopituitarism[J].Am JMed Sci,2010,339(2):195-199.
[12]Houdouin L,Polivka M,Henegar C,et al.Pituitary germinoma and lymphocytic hypophysitis:a pitfall.Report of two cases[J].Ann Pathol.2003,23(4):349-354.
[13]Amat A,Gastaldo E,Revert A,et al.Importance of long-term follow-up of diabetes insipidus;from lymphocytic hypophysitis to germinoma[J].An Pediatr(Barc),2015,82(1):108-112
[14]Bettendorf M,Fehn M,Grulich J,et al.Lymphocytic hypophysitis with central diabetes insipidus and consequent panhypopituitarism preceding a multifocal,intracranial germinoma in a prepubertal girl[J].Eur J Pediatr.1999,158(4):288-292.
[15]Torremocha F,Hadjadj S,Menet E,et al.Pituitary germinoma presenting as a pseudotumoral lymphocytic hypophysitis in a man[J].Ann Endocrinol(Paris),2002,63(1):13-17.
[16]Endo T,Kumabe T,Ikeda H,et al.Neurohypophyseal germinoma histologically misidentified as granulomatous hypophysitis[J].Acta Neurochir(Wien),2002,144(11):1233-1237.
[17]赖丽萍,廖志红,叶艺艺,等.颅内生殖细胞瘤误诊为淋巴细胞性漏斗垂体炎一例并文献复习[J].海南医学,2016,27(18):3079-3081.
[18]Yoshizawa A,Yokoya S,Oyama K,et al.Elevated levels of human chorionic gonadotropin-beta,a marker of active neurohypophyseal germinoma,detected by immune complex transfer enzyme immunoassay[J].Pituitary,2004,7(3):165-169.
[19]郭清华,臧丽,母义明,等.脑脊液人绒毛膜促性腺激素测定在颅内生殖细胞瘤诊治中的价值[J].中华内科杂志,2010,49(10):851-854.
[20]魏茜,李一君,杨国庆,等.淋巴细胞性垂体炎18例临床分析[J].中华医学杂志,2018,98(2):102-108.
[21]吴进松,张景龙.鞍区生殖细胞瘤9例治疗体会[J].山西医科大学学报,2014,45(10):979-980.
[22]Lupi I,Gutenberg A.Chapter 45,Autoimmune hypophysitis in the autoimmune disease(Fifth Edition)[M].P633-646.
[23]Roshan V.Sethi,Rose Marino,Andrzej Niemierko,et al.Delayed Diagnosis in Children with Intracranial Germ Cell Tumors[J].J Pediatr,2013,163:1448-1453.
[24]Mirocha S,Elagin RB,Salamat S,et al.T regulatory cells distinguish two types of primary hypophysitis[J].Clin Exp Immunol,2009,155(3):403-411.
[25]陈淑艳,邹建勋,王明杰,等.淋巴细胞性垂体炎MRI诊断[J].医学影像学杂志,2010,20(9):1285-1288.
[26]李东石,陈建英,程惠华.脑生殖细胞瘤术后放射治疗疗效分析[J].福州总医院学报,2006,13(2):105-106.
[27]Oka H,Kawano N.Long-term functional outcome of suprasellar germinomas:usefulness and limitations of radiotherapy[J].J Neurooncol,1998,40(2):185-190.
[28]Calaminus G,Kortmann R,Worch J,et al.SIOP CNS GCT 96:final report of outcome of a prospective,multinational nonrandomized trial for children and adults with intracranial germinoma,comparing craniospinal irradiation alone with chemotherapy followed by focal primary site irradiation for patients with localized disease[J].Neuro Oncol,2013,15(6):788-796.
[2]Adhiyaman V,Alexander S.Cerebral hyperperfusion syndrome following carotid endarterectomy[J].Qjm,2007,100(4):239-244.
[3]方陆雄,徐书翔,朱明华,等.诊断性化疗在颅内生殖细胞瘤诊治中的应用[J].中华神经外科杂志,2013,29(10):984-986.
[4]Gutenberg A,Bell JJ,Lupi I,et al.Pituitary and systemic autoimmunity in a case of intrasellar germinoma[J].Pituitary,2011,14(4):388-394.
[5]Ganesh J,Sze CW,Margaret Z.Rapidly evolving hypopituitarism in a boy with multiple autoimmune disorders[J].J Paediatr Child Health,2013,49(9):783-785.
[6]Shunsuke Terasaka,Masahito Kawabori,Hiroyuki Kobayashi,et al.Neurohypophyseal germinoma with abundant fibrous tissue[J].Brain Tumor Pathol,2012,29(1):58-62.
[7]Marita F,Markus B,Dieter K,et al.Lymphocytic Hypophysitis Masking a Suprasellar Germinoma in a 12-year-old Girl-A Case Report[J].Brain Tumor Pathol,2012,29(1):58-62.
[8]Mariana G,Cristina B,Thiago A,et al.An intrasellar germinoma with normal tumor marker concentrations mimicking primary lymphocytic hypophysitis[J].Arq Bras Endocrinol Metabol,2013,57(7):566-570.
[9]Nese O,Altay S,Sinan T,et al.An intrasellar germinoma with normal cerebrospinal fluidβ-HCG concentrations misdiagnosed as hypophysitis[J].Hormones,2006,5(1):66-70.
[10]Yoko Mikami-Terao,Masaharu Akiyama,Takaaki Yanagisawa,et al.Lymphocytic hypophysitis with central diabetes insipidus and subsequent hypopituitarism masking a suprasellar germinoma in a 13-year-old girl[J].Childs Nerv Syst,2006,22(10):1338-1343.
[11]Takamasa Nishiuchi,Hitomi Imachi,Koji Murao,et al.Suprasellar Germinoma Masquerading As Lymphocytic Hypophysitis Associated With Central Diabetes Insipidus,Delayed Sexual Development,and Subsequent Hypopituitarism[J].Am JMed Sci,2010,339(2):195-199.
[12]Houdouin L,Polivka M,Henegar C,et al.Pituitary germinoma and lymphocytic hypophysitis:a pitfall.Report of two cases[J].Ann Pathol.2003,23(4):349-354.
[13]Amat A,Gastaldo E,Revert A,et al.Importance of long-term follow-up of diabetes insipidus;from lymphocytic hypophysitis to germinoma[J].An Pediatr(Barc),2015,82(1):108-112
[14]Bettendorf M,Fehn M,Grulich J,et al.Lymphocytic hypophysitis with central diabetes insipidus and consequent panhypopituitarism preceding a multifocal,intracranial germinoma in a prepubertal girl[J].Eur J Pediatr.1999,158(4):288-292.
[15]Torremocha F,Hadjadj S,Menet E,et al.Pituitary germinoma presenting as a pseudotumoral lymphocytic hypophysitis in a man[J].Ann Endocrinol(Paris),2002,63(1):13-17.
[16]Endo T,Kumabe T,Ikeda H,et al.Neurohypophyseal germinoma histologically misidentified as granulomatous hypophysitis[J].Acta Neurochir(Wien),2002,144(11):1233-1237.
[17]赖丽萍,廖志红,叶艺艺,等.颅内生殖细胞瘤误诊为淋巴细胞性漏斗垂体炎一例并文献复习[J].海南医学,2016,27(18):3079-3081.
[18]Yoshizawa A,Yokoya S,Oyama K,et al.Elevated levels of human chorionic gonadotropin-beta,a marker of active neurohypophyseal germinoma,detected by immune complex transfer enzyme immunoassay[J].Pituitary,2004,7(3):165-169.
[19]郭清华,臧丽,母义明,等.脑脊液人绒毛膜促性腺激素测定在颅内生殖细胞瘤诊治中的价值[J].中华内科杂志,2010,49(10):851-854.
[20]魏茜,李一君,杨国庆,等.淋巴细胞性垂体炎18例临床分析[J].中华医学杂志,2018,98(2):102-108.
[21]吴进松,张景龙.鞍区生殖细胞瘤9例治疗体会[J].山西医科大学学报,2014,45(10):979-980.
[22]Lupi I,Gutenberg A.Chapter 45,Autoimmune hypophysitis in the autoimmune disease(Fifth Edition)[M].P633-646.
[23]Roshan V.Sethi,Rose Marino,Andrzej Niemierko,et al.Delayed Diagnosis in Children with Intracranial Germ Cell Tumors[J].J Pediatr,2013,163:1448-1453.
[24]Mirocha S,Elagin RB,Salamat S,et al.T regulatory cells distinguish two types of primary hypophysitis[J].Clin Exp Immunol,2009,155(3):403-411.
[25]陈淑艳,邹建勋,王明杰,等.淋巴细胞性垂体炎MRI诊断[J].医学影像学杂志,2010,20(9):1285-1288.
[26]李东石,陈建英,程惠华.脑生殖细胞瘤术后放射治疗疗效分析[J].福州总医院学报,2006,13(2):105-106.
[27]Oka H,Kawano N.Long-term functional outcome of suprasellar germinomas:usefulness and limitations of radiotherapy[J].J Neurooncol,1998,40(2):185-190.
[28]Calaminus G,Kortmann R,Worch J,et al.SIOP CNS GCT 96:final report of outcome of a prospective,multinational nonrandomized trial for children and adults with intracranial germinoma,comparing craniospinal irradiation alone with chemotherapy followed by focal primary site irradiation for patients with localized disease[J].Neuro Oncol,2013,15(6):788-796.
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