小脑发育不良性节细胞瘤
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摘要
研究背景小脑发育不良性节细胞瘤是小脑良性肿瘤,临床表现不典型,相对罕见。本文报告1例小脑发育不良性节细胞瘤患者,通过复习相关文献,探讨其临床病理学特征,以期提高诊断与鉴别诊断能力。方法与结果女性患者,34岁,头部MRI显示右侧小脑半球类圆形占位性病变。手术全切除病变,术中可见病变表面脑回增宽,呈黄白色,似脑组织样,质地略软,血供丰富,无包膜,与周围脑组织无粘连。组织学形态,颗粒细胞层和浦肯野细胞层被平行排列的异常有髓纤维和结构紊乱的异常神经元取代,伴血管畸形。免疫组织化学染色,异常神经元胞质表达神经元核抗原、突触素、S-100蛋白和神经元特异性烯醇化酶,胶质纤维背景表达胶质纤维酸性蛋白,神经纤维表达神经微丝蛋白,Ki-67抗原标记指数<1%。最终病理诊断为小脑发育不良性节细胞瘤。术后仍呈深昏迷,共住院24 d,出院后失访。结论小脑发育不良性节细胞瘤临床相对罕见,组织学形态呈良性,影像学表现具有一定特异性,早期诊断并手术治疗十分必要,应注意与节细胞瘤、节细胞胶质瘤和低级别星形细胞瘤相鉴别。小脑发育不良性节细胞瘤患者及其家属应进行系统检查,关注有无其他器官或系统疾病或肿瘤。
Background Dysplastic cerebellar gangliocytoma(Lhermitte-Duclos disease) is benign tumor with atypical clinical manifestations and relatively rare incidence.This paper reported one case of dysplastic cerebellar gangliocytoma and reviewed related literatures,so as to explore its clinical and pathological characteristics and improve the diagnosis and differential diagnosis of dysplastic cerebellar gangliocytoma.Methods and Results Head MRI of a 34-year-old female patient showed round space-occupying lesion in right cerebellar hemisphere.The lesion was totally removed by operation.Intraoperative findings:the lesion had widened gyri on the surface with yellow or white color;it was similarto brain tissue,soft,rich blood supply,nonencapsuled,and was not adhered to surrounding brain tissues.Histologically,granular layers and Purkinje cell layers were replaced by parallel arranged abnormalmyelinated fibers and abnormal neurons in disordered structures associated with vascular malformation.Immunohistochemical staining showed the cytoplasm of abnormal neuronal cells was positive for neuronalnuclei(Neu N),synaptophysin(Syn),S-100 protein(S-100) and neuron-specific enolase(NSE);glial fiberswere positive for glial fibrillary acidic protein(GFAP);nerve fibers were positive for neurofilament protein(NF).Ki-67 labeling index was less than 1%.Final pathological diagnosis was dysplastic cerebellargangliocytoma.The patient was in deep coma after operation,and was discharged after 24 d,but was lostafter discharge.Conclusions Dysplastic cerebellar gangliocytoma is a rare,benign tumor,having certainspecific imaging features.Early diagnosis and surgical treatment is necessary,and it should bedifferentiated from gangliocytoma,ganglioglioma and low-grade astrocytoma.The systemic examination forpatients with dysplastic cerebellar gangliocytoma and their family members is needed for the detection of pathological changes in other organs or other tumors.
Background Dysplastic cerebellar gangliocytoma(Lhermitte-Duclos disease) is benign tumor with atypical clinical manifestations and relatively rare incidence.This paper reported one case of dysplastic cerebellar gangliocytoma and reviewed related literatures,so as to explore its clinical and pathological characteristics and improve the diagnosis and differential diagnosis of dysplastic cerebellar gangliocytoma.Methods and Results Head MRI of a 34-year-old female patient showed round space-occupying lesion in right cerebellar hemisphere.The lesion was totally removed by operation.Intraoperative findings:the lesion had widened gyri on the surface with yellow or white color;it was similarto brain tissue,soft,rich blood supply,nonencapsuled,and was not adhered to surrounding brain tissues.Histologically,granular layers and Purkinje cell layers were replaced by parallel arranged abnormalmyelinated fibers and abnormal neurons in disordered structures associated with vascular malformation.Immunohistochemical staining showed the cytoplasm of abnormal neuronal cells was positive for neuronalnuclei(Neu N),synaptophysin(Syn),S-100 protein(S-100) and neuron-specific enolase(NSE);glial fiberswere positive for glial fibrillary acidic protein(GFAP);nerve fibers were positive for neurofilament protein(NF).Ki-67 labeling index was less than 1%.Final pathological diagnosis was dysplastic cerebellargangliocytoma.The patient was in deep coma after operation,and was discharged after 24 d,but was lostafter discharge.Conclusions Dysplastic cerebellar gangliocytoma is a rare,benign tumor,having certainspecific imaging features.Early diagnosis and surgical treatment is necessary,and it should bedifferentiated from gangliocytoma,ganglioglioma and low-grade astrocytoma.The systemic examination forpatients with dysplastic cerebellar gangliocytoma and their family members is needed for the detection of pathological changes in other organs or other tumors.
引文
[1]Lhermitte J,Duclos P.Sur un ganglioneuroma diffus du cortex du cervelet.Bull Assoc Fr Etude Cancer,1920,9:99-107.
[2]Zhou XP,Marsh DJ,Morrison CD,Chaudhury AR,Maxwell M,Reifenberger G,Eng C.Germline inactivation of PTEN anddysregulation of the phosphoinositol-3-kinase/Akt pathway causehuman Lhermitte-Duclos disease in adults.Am J Hum Genet,2003,73:1191-1198.
[3]Jain N,Chauhan U,Goel V,Puri SK.Lhermitte-Duclos disease:diagnosis on MRI,MR spectroscopy,CT and positron emissiontomography.J Clin Diagn Res,2015,9:TJ01-02.
[4]Schindler G,Capper D,Meyer J,Janzarik W,Omran H,Herold-Mende C,Schmieder K,Wesseling P,Mawrin C,Hasselblatt M,Louis DN,Korshunov A,Pfister S,Hartmann C,Paulus W,Reifenberger G,von Deimling A.Analysis of BRAF V600Emutation in 1,320 nervous system tumors reveals high mutationfrequencies in pleomorphic xanthoastrocytoma,ganglioglioma andextra-cerebellar pilocytic astrocytoma.Acta Neuropathol,2011,121:397-405.
[5]Dougherty MJ,Santi M,Brose MS,Ma C,Resnick AC,Sievert AJ,Storm PB,Biegel JA.Activating mutations in BRAF characterizea spectrum of pediatric low-grade gliomas.Neuro Oncol,2010,12:621-630.
[6]Gupta K,Orisme W,Harreld JH,Qaddoumi I,Dalton JD,Punchihewa C,Collins-Underwood R,Robertson T,TatevossianRG,Ellison DW.Posterior fossa and spinal gangliogliomas formtwo distinct clinicopathologic and molecular subgroups.ActaNeuropathol Commun,2014,2:18.
[7]Prabowo AS,van Thuijl HF,Scheinin I,Sie D,van Essen HF,Iyer AM,Spliet WG,Ferrier CH,van Rijen PC,Veersema TJ,Thom M,Schouten-van Meeteren AY,Reijneveld JC,Ylstra B,Wesseling P,Aronica E.Landscape of chromosomal copy numberaberrations in gangliogliomas and dysembryoplasticneuroepithelial tumours.Neuropathol Appl Neurobiol,2015,41:743-755.
[8]Hoischen A,Ehrler M,Fassunke J,Simon M,Baudis M,Landwehr C,Radlwimmer B,Lichter P,Schramm J,Becker AJ,Weber RG.Comprehensive characterization of genomicaberrations in gangliogliomas by CGH,array-based CGH andinterphase FISH.Brain Pathol,2008,18:326-337.
[9]Pandita A,Balasubramaniam A,Perrin R,Shannon P,Guha A.Malignant and benign ganglioglioma:a pathological and molecular study.Neuro Oncol,2007,9:124-134.
[10]Sarnat HB,Flores-Sarnat L.Infantile tauopathies:hemimegalencephaly;tuberous sclerosis complex;focal corticaldysplasia 2;ganglioglioma.Brain Dev,2015,37:553-562.
[11]Fernandes-Cabral DT,Zenonos GA,Hamilton RL,Panesar SS,Fernandez-Miranda JC.High-definition fiber tractography in theevaluation and surgical planning of Lhermitte-Duclos disease:acase report.World Neurosurg,2016,92:587.
[12]Zak M,Ledbetter M,Maertens P.Infantile Lhermitte-Duclosdisease treated successfully with rapamycin.J Child Neurol,2016.[Epub ahead of print]
[13]Nowak DA,Trost HA.Lhermitte-Duclos disease(dysplasticcerebellar gangliocytoma):a malformation,hamartoma or neoplasm?Acta Neurol Scand,2002,105:137-145.
[14]Gama I,Almeida L.Lhermitte-Duclos disease associated toCowden syndrome:de novo diagnosis and management of theseextremely rare syndromes in a patient.BMJ Case Rep,2017:ID217974.
[15]St?pniak I,Trojanowski T,Drelich-Zbroja A,Willems P,ZarembaJ.Cowden syndrome and the associated Lhermitte-Duclosdisease:case presentation.Neurol Neurochir Pol,2015,49:339-343.
[16]Murata J,Tada M,Sawamura Y,Mitsumori K,Abe H,NagashimaK.Dysplastic gangliocytoma(Lhermitte-Duclos disease)associated with Cowden disease:report of a case and review of theliterature for the genetic relationship between the two diseases.JNeurooncol,1999,41:129-136.
[2]Zhou XP,Marsh DJ,Morrison CD,Chaudhury AR,Maxwell M,Reifenberger G,Eng C.Germline inactivation of PTEN anddysregulation of the phosphoinositol-3-kinase/Akt pathway causehuman Lhermitte-Duclos disease in adults.Am J Hum Genet,2003,73:1191-1198.
[3]Jain N,Chauhan U,Goel V,Puri SK.Lhermitte-Duclos disease:diagnosis on MRI,MR spectroscopy,CT and positron emissiontomography.J Clin Diagn Res,2015,9:TJ01-02.
[4]Schindler G,Capper D,Meyer J,Janzarik W,Omran H,Herold-Mende C,Schmieder K,Wesseling P,Mawrin C,Hasselblatt M,Louis DN,Korshunov A,Pfister S,Hartmann C,Paulus W,Reifenberger G,von Deimling A.Analysis of BRAF V600Emutation in 1,320 nervous system tumors reveals high mutationfrequencies in pleomorphic xanthoastrocytoma,ganglioglioma andextra-cerebellar pilocytic astrocytoma.Acta Neuropathol,2011,121:397-405.
[5]Dougherty MJ,Santi M,Brose MS,Ma C,Resnick AC,Sievert AJ,Storm PB,Biegel JA.Activating mutations in BRAF characterizea spectrum of pediatric low-grade gliomas.Neuro Oncol,2010,12:621-630.
[6]Gupta K,Orisme W,Harreld JH,Qaddoumi I,Dalton JD,Punchihewa C,Collins-Underwood R,Robertson T,TatevossianRG,Ellison DW.Posterior fossa and spinal gangliogliomas formtwo distinct clinicopathologic and molecular subgroups.ActaNeuropathol Commun,2014,2:18.
[7]Prabowo AS,van Thuijl HF,Scheinin I,Sie D,van Essen HF,Iyer AM,Spliet WG,Ferrier CH,van Rijen PC,Veersema TJ,Thom M,Schouten-van Meeteren AY,Reijneveld JC,Ylstra B,Wesseling P,Aronica E.Landscape of chromosomal copy numberaberrations in gangliogliomas and dysembryoplasticneuroepithelial tumours.Neuropathol Appl Neurobiol,2015,41:743-755.
[8]Hoischen A,Ehrler M,Fassunke J,Simon M,Baudis M,Landwehr C,Radlwimmer B,Lichter P,Schramm J,Becker AJ,Weber RG.Comprehensive characterization of genomicaberrations in gangliogliomas by CGH,array-based CGH andinterphase FISH.Brain Pathol,2008,18:326-337.
[9]Pandita A,Balasubramaniam A,Perrin R,Shannon P,Guha A.Malignant and benign ganglioglioma:a pathological and molecular study.Neuro Oncol,2007,9:124-134.
[10]Sarnat HB,Flores-Sarnat L.Infantile tauopathies:hemimegalencephaly;tuberous sclerosis complex;focal corticaldysplasia 2;ganglioglioma.Brain Dev,2015,37:553-562.
[11]Fernandes-Cabral DT,Zenonos GA,Hamilton RL,Panesar SS,Fernandez-Miranda JC.High-definition fiber tractography in theevaluation and surgical planning of Lhermitte-Duclos disease:acase report.World Neurosurg,2016,92:587.
[12]Zak M,Ledbetter M,Maertens P.Infantile Lhermitte-Duclosdisease treated successfully with rapamycin.J Child Neurol,2016.[Epub ahead of print]
[13]Nowak DA,Trost HA.Lhermitte-Duclos disease(dysplasticcerebellar gangliocytoma):a malformation,hamartoma or neoplasm?Acta Neurol Scand,2002,105:137-145.
[14]Gama I,Almeida L.Lhermitte-Duclos disease associated toCowden syndrome:de novo diagnosis and management of theseextremely rare syndromes in a patient.BMJ Case Rep,2017:ID217974.
[15]St?pniak I,Trojanowski T,Drelich-Zbroja A,Willems P,ZarembaJ.Cowden syndrome and the associated Lhermitte-Duclosdisease:case presentation.Neurol Neurochir Pol,2015,49:339-343.
[16]Murata J,Tada M,Sawamura Y,Mitsumori K,Abe H,NagashimaK.Dysplastic gangliocytoma(Lhermitte-Duclos disease)associated with Cowden disease:report of a case and review of theliterature for the genetic relationship between the two diseases.JNeurooncol,1999,41:129-136.