RESUMEN
With rapid development of genetic testing techniques, neuroimaging and neuroelectrophysiological technologies, our understanding of malformations of cortical development continues to be deepened and updated. In particular, mutations in genes related to the mammalian target of rapamycin (mTOR) signaling pathway have been successively discovered in focal cortical dysplasia (FCD). At the same time, the classification consensus on FCD issued by the International League Against Epilepsy (ILAE) in 2011 has encountered problems and challenges in diagnostic practice. Therefore, in 2022, ILAE proposed an updated version of the FCD classification based on the progress in molecular genetics over the past decade. The main addition to the classification system is "white matter lesions, " and it is also suggested to integrate histopathological, neuroimaging, and molecular testing results for multi-level integrated diagnosis to achieve reliable, clinically relevant, and therapeutic targeted final diagnosis.
Asunto(s)
Malformaciones del Desarrollo Cortical , Serina-Treonina Quinasas TOR , Humanos , Malformaciones del Desarrollo Cortical/genética , Malformaciones del Desarrollo Cortical/patología , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Serina-Treonina Quinasas TOR/metabolismo , Serina-Treonina Quinasas TOR/genética , Epilepsia Refractaria/patología , Epilepsia Refractaria/genética , Mutación , Corteza Cerebral/patología , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/metabolismo , Sustancia Blanca/patología , Sustancia Blanca/diagnóstico por imagen , Neuroimagen/métodosRESUMEN
Objective: To investigate the clinical, radiological, and pathological features of anaplastic gangliogliomas (AGGs) and to determine whether these tumors represent a distinct entity. Methods: Consecutive 667 cases of ganglioglioma (GG) diagnosed at the Xuanwu Hospital, Capital Medical University, Beijing, China between January 2015 and July 2023 were screened. Among these cases, 9 pathologically confirmed AGG cases were identified. Their clinical, radiological, treatment, and outcome data were analyzed retrospectively. Most of the tumor samples were subject to next-generation sequencing, while a subset of them were subject to DNA methylation profiling. Results: Among the 9 patients, there were five males and four females, with a median age of 8 years. Epileptic seizures (5/9) were the most frequently presented symptom. Radiological examinations showed three types of radiological manifestations: four cases showed abnormal MRI signals with no significant mass effects and mild enhancement; two cases demonstrated a mixed solid-cystic density lesion with peritumoral edema, which showed significant heterogeneous enhancement and obvious mass effects, and one case displayed cystic cavity formation with nodules on MRI, which showed evident enhancements. All cases exhibited mutations that were predicted to activate the MAP kinase signaling pathway, including seven with BRAF p.V600E mutation and two with NF1 mutation. Five AGGs with mutations involving the MAP kinase signaling pathway also had concurrent mutations, including three with CDKN2A homozygous deletion, one with a TERT promoter mutation, one with a H3F3A mutation, and one with a PTEN mutation. Conclusions: AGG exhibits a distinct spectrum of pathology, genetic mutations and clinical behaviors, differing from GG. Given these characteristics suggest that AGG may be a distinct tumor type, further expansion of the case series is needed. Therefore, a comprehensive integration of clinical, histological, and molecular analyses is required to correctly diagnose AGG. It will also help guide treatments and prognostication.
Asunto(s)
Neoplasias Encefálicas , Metilación de ADN , Ganglioglioma , Imagen por Resonancia Magnética , Mutación , Fosfohidrolasa PTEN , Proteínas Proto-Oncogénicas B-raf , Humanos , Ganglioglioma/patología , Ganglioglioma/genética , Masculino , Femenino , Niño , Estudios Retrospectivos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/diagnóstico por imagen , Proteínas Proto-Oncogénicas B-raf/genética , Fosfohidrolasa PTEN/genética , Fosfohidrolasa PTEN/metabolismo , Telomerasa/genética , Histonas/genética , Histonas/metabolismo , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Epilepsia/patología , Epilepsia/genéticaRESUMEN
Objective: To study clinicopathological features and differential diagnosis of IgG4-related diseases (IgG4-RD) in nasal cavity and paranasal sinuses. Methods: A retrospective analysis was performed in patients presenting initially with rhinosinusitis or a nasal mass, who also underwent nasal mucosa biopsy in Beijing Tongren Hospital Affiliated to Capital Medical University, from March 2016 to March 2021. According to the latest international classification diagnostic criteria of IgG4-RD published by the American Society of Rheumatology (ACR)/European Association for Rheumatology (EULAR) in 2019, 10 cases of nasal cavity and paranasal sinuses IgG4-RD were diagnosed and included in the study. The clinical features, histopathology and immunohistochemical expression of IgG and IgG4 were analyzed. Results: Among the 10 patients, five patients were male and five female. The age ranged from 30 to 71 years (median 52.7 years). Nasal polyp/nasal masses were seen in six cases, and lacrimal gland swelling was found in four cases. The serum IgG and IgG4 level was increased in four cases. Microscopically, all 10 cases showed intense lymphoplasmocytic infiltration and varying degrees of fibrosis in nasal or sinus mucosa, while four cases showed occlusive vasculitis. The number of IgG4 positive plasma cells in nasal mucosa was more than 10/high power field (HPF), with a mean of 67/HPF. The number of IgG4 positive plasma cells in the cases with severe fibrosis was significantly lower than in those without. The ratio of IgG4+/IgG+plasma cells was higher than 40% in six cases. Conclusions: IgG4-RD in nasal cavity and paranasal sinuses is a local manifestation of a systemic disease, while nasal cavity and paranasal sinuses are rarely involved by IgG4-RD. The diagnosis is based on clinical symptoms, imaging, IgG4-related serology and histopathologic scores. Histopathology has a core diagnostic value. IgG4 serology and imaging have important diagnostic values in the cases without biopsy.
Asunto(s)
Enfermedad Relacionada con Inmunoglobulina G4 , Senos Paranasales , Adulto , Anciano , Femenino , Fibrosis , Humanos , Inmunoglobulina G/metabolismo , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico , Enfermedad Relacionada con Inmunoglobulina G4/patología , Masculino , Persona de Mediana Edad , Cavidad Nasal/metabolismo , Cavidad Nasal/patología , Senos Paranasales/metabolismo , Senos Paranasales/patología , Estudios RetrospectivosRESUMEN
Objective: To investigate the expression of cation chloride cotransporter (NKCC1/KCC2) in the neurons from cerebral lesions of children with focal cortical dysplasia (FCD) type ⠡, to provide a morphological basis for revealing the possible mechanism of epilepsy. Methods: Eight cases of FCD type ⠡ diagnosed at Beijing Haidian Hospital, Beijing, China and 12 cases diagnosed at Xuanwu Hospital, Capital Medical University, Beijing, China from February 2017 to December 2019 were included. The expression of NKCC1 and KCC2 in FCD type ⠡a and FCD type ⠡b was detected using immunohistochemistry and double immunohistochemical stains. The average optical density of NKCC1 in dysmorphic neurons and normal neurons was also determined using immunohistochemical staining in FCD type ⠡a (10 cases). Results: The patients were all younger than 14 years of age. Ten cases were classified as FCD type IIa, and 10 cases as FCD type ⠡b. NKCC1 was expressed in the cytoplasm of normal cerebral cortex neurons and KCC2 expressed on cell membranes. In dysmorphic neurons of FCD type ⠡a, expression of NKCC1 increased, which was statistically higher than that of normal neurons (P<0.01). Aberrant expression of KCC2 in dysmorphic neurons was also noted in the cytoplasm. In the FCD ⠡b type, the expression pattern of NKCC1/KCC2 in dysmorphic neurons was the same as that of FCD type ⠡a. The aberrant expression of NKCC1 in balloon cells was negative or weakly positive on the cell membrane, while the aberrant expression of KCC2 was absent. Conclusions: The expression pattern of NKCC1/KCC2 in dysmorphic neurons and balloon cells is completely different from that of normal neurons. The NKCC1/KCC2 protein-expression changes may affect the transmembrane chloride flow of neurons, modify the effect of inhibitory neurotransmitters γ-aminobutyric acid and increase neuronal excitability. These effects may be related to the occurrence of clinical epileptic symptoms.
Asunto(s)
Epilepsia , Malformaciones del Desarrollo Cortical de Grupo I , Simportadores , Niño , Humanos , Encéfalo/patología , Cationes/metabolismo , Cloruros/metabolismo , Epilepsia/metabolismo , Malformaciones del Desarrollo Cortical de Grupo I/metabolismo , Miembro 2 de la Familia de Transportadores de Soluto 12/metabolismo , Simportadores/metabolismoRESUMEN
Objective: To investigate the clinicopathological features, diagnosis and prognosis of diffuse leptomeningeal glioneuronal tumor (DLGNT). Methods: Five cases of DLGNT diagnosed from January 2016 to January 2020 were collected from Xuanwu Hospital, Capital Medical University. The clinical features, histopathologic characteristics, immunohistochemical and molecular genetic findings and prognosis were analyzed and the relevant literature was reviewed. Results: The five patients (two males and three females) were aged 2 to 52 years (median 11 years), and had history of increased intracranial pressure (headache and vomiting) or limb weakness. Three of them were younger than 16 years of age. The imaging studies showed diffuse intracranial and intraspinal nodular leptomeningeal thickening and enhancement, with or without parenchymal involvement. At times there were associated small cyst-like lesions. Imaging interpretations were inflammatory lesions in three cases and space occupying lesions in two. Microscopically, in three cases the tumors showed low to moderate cellularity, consisting of relatively monomorphous oligodendrocyte-like cells arranged in small nests or diffusely distribution. No mitosis and necrosis were observed. In two cases there were increased cellularity with a diffuse honeycomb pattern. The tumor showed mild to moderate polymorphism with hyperchromatic nuclei. Mitosis, endothelial vascular proliferation and glomeruloid vessels were seen. Necrosis was absent. The tumor cells in all five cases were positive for synaptophysin,Olig2 and negative for IDH1 and H3 K27M. GFAP was focally positive in four cases and only one case expressed NeuN partly. The Ki-67 labeling index was 1%-35%. BRAF fusion was detected in four cases. Genetic analysis showed solitary 1p deletion in two cases (2/5), while all cases were negative for 1p/19q co-deletion (0/5). The five patients were followed up for 13 to 28 months (median 15 month). One patient died after 27 months. There was no evidence of tumor progression in the remaining four patients. Conclusions: DLGNT is rare and easily confused with other central nervous system tumors and inflammatory lesions. Therefore, the diagnosis of DLGNT should be made based on comprehensive information including imaging, morphologic and corresponding immunohistochemical examinations and molecular genetics to avoid misdiagnosis and delay in management.
Asunto(s)
Neoplasias del Sistema Nervioso Central , Neoplasias Meníngeas , Oligodendroglioma , Neoplasias del Sistema Nervioso Central/genética , Femenino , Pruebas Genéticas , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/genética , Meninges , Oligodendroglioma/genéticaRESUMEN
Objective: To investigate the clinicopathological characteristics, diagnosis, differential diagnosis and prognostic factors of SMARCB1 (INI1)-deficient sinonasal carcinoma (SDSC). Methods: Sixteen cases of SDSC diagnosed in the Department of Pathology, Beijing Tongren Hospital from January 2016 to September 2020 were enrolled. Ninety-nine cases of small round cell malignant tumors of the head and neck were selected as the control, including poorly-differentiated squamous cell carcinoma (n=10), poorly-differentiated adenocarcinoma (n=5), undifferentiated carcinoma (SNUC, n=4), NUT carcinoma (n=5), neuroendocrine carcinoma (n=10), and other non-epithelial tumors [olfactory neuroblastoma (n=10), rhabdomyosarcoma (n=10), NK/T-cell lymphoma (n=10), malignant melanoma (n=10), Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET, n=5)] and non-keratinizing undifferentiated nasopharyngeal carcinoma (n=20). The clinical and pathologic characteristics of SDSC, and immunohistochemical (IHC) expression of broad-spectrum CKpan, CK7, CK8/18, CK5/6, p63, p40, p16, INI1, NUT and neuroendocrine markers (Syn, CgA, CD56) were evaluated. In situ hybridization (ISH) was used to detect EBER and fluorescence in situ hybridization (FISH) to detect INI1 gene deletion. Results: The 16 cases of SDSC accounted for 1.3% (16/1 218) of all malignant sinonasal tumors in the author's unit during this time period, and 2.4% (16/657) of all malignant epithelial tumors. Microscopically, there was no clear squamous and adenomatous differentiation, but "rhabdoid-like" cells, are often seen. All SDSC cases were positive for CKpan and CK8/18, negative for INI1; Epstein-Barr virus was not detected by ISH; and INI1 gene deletion was observed in all 11 SDSC patients with FISH. Twelve cases were followed up for 3-47 months. One died of tumor-related diseases half a year after diagnosis, and the remaining patients were alive with tumor, the longest survival time was 47 months. Conclusion: SDSC should be differentiated from a variety of poorly-differentiated tumors in the sinonasal area. Histologically, SDSC has no clear differentiation, but the tumor cells are characteristically basal-like or rhabdoid-like, with non-specific vacuoles, translucent or vacuolar nuclei, prominent nucleoli and necrotic foci. They are negative for INI1 IHC staining, and FISH demonstrates INI1 gene deletion. The clinical prognosis is still unclear, further studies on its biologic behavior and treatment methods are warranted.
Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de los Senos Paranasales , Biomarcadores de Tumor/genética , Carcinoma de Células Escamosas/genética , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Neoplasias de los Senos Paranasales/genética , Proteína SMARCB1/genéticaRESUMEN
Objective: To analyze the clinicopathological characteristics, diagnosis and prognosis of meningioangiomatosis (MA), and to investige the possible origion of spindle cells. Methods: Seventeen cases of MA were collected at Xuanwu Hospital of Capital Medical University and the First Affiliated Hospital of Fujian Medical University, from June 2012 to March 2020. The clinical manifestations, radiologic, histopathologic, immunohistochemical features and patients' outcome were analyzed. The presumed origin of spindle cells was evaluated by immunohistochemical staining. Results: Of the 17 patients, 9 were males and 8 were females. The age ranged from 3 to 56 years old. Thirteen patients presented with seizure as the initial symptom. The lesions were solitary and located in the cerebral cortex. Histopathologically, there were proliferation of small blood vessels and perivascular spindle cells in the cerebral cortex. The spindle cells had no obvious atypia, mitoses and necrosis. Four cases were combined with transitional meningioma. Immunohistochemically, the proliferative perivascular spindle cells were positive for vimentin in all cases, and focally positive for EMA and SSTR2. Ki-67 proliferation index was low. Neurofibrillary tangles were demonstrated by AT8. All 17 patients received surgical treatment and were followed up for one to 93 months. None had seizure attacks or tumor recurrence. Conclusions: MA is a rare slow-growing intracranial lesion, and the perivascular spindle cells could be derived from meningothelial cells, and MA is often associated with degeneration of the cerebral cortex and meningioma. The patients have good prognosis after surgical treatment.
Asunto(s)
Neoplasias Meníngeas , Meningioma , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Inmunohistoquímica , Masculino , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/cirugía , Meningioma/diagnóstico por imagen , Meningioma/cirugía , Persona de Mediana Edad , Pronóstico , Vimentina , Adulto JovenRESUMEN
A 52-year-old male presented to Beijing Tongren Hospital with a 5-year history of bilateral dry eyes. He had been diagnosed with Steven-Johnson syndrome due to allergy to cold medication. On examination, the Schirmer I test value was 0 mm, the tear break-up time was 0 s, and corneal fluorescein staining showed corneal epithelial erosion with partial fusion in both eyes. The clinical diagnosis was dry eyes (severe) and Steven-Johnson syndrome. No significant effect was observed after use of artificial tears and anti-inflammatory eye drops and tear punctal embolization. Then an insular infraorbital neurovascular pedicle labial salivary gland transplantation was performed in the right eye. During the 1-year postoperative follow-up, the symptoms and signs were significantly improved in the operated eye, and the surgical results were satisfactory. (Chin J Ophthalmol, 2021, 57: 946-948).
Asunto(s)
Síndromes de Ojo Seco , Síndrome de Stevens-Johnson , Humanos , Gotas Lubricantes para Ojos , Masculino , Persona de Mediana Edad , Glándulas Salivales , LágrimasRESUMEN
Objective: To analyze the clinicopathological features and probable mechanisms of high-grade gliomas with H3 G34R mutation. Methods: Five cases of high-grade gliomas with H3 G34R mutation were collected at Xuanwu Hospital, Capital Medical University, Beijing, China, from 2016 to 2019. The clinical and pathological data for each case was retrospectively reviewed. Results: The 5 patients (2 males and 3 females) aged from 15 to 45 years (mean 23 years), and had a history of headache or motor weakness. Four of them were younger than 20 years of age. Magnetic resonance imaging showed that the lesions of 3 cases were seen separately in frontal lobe, parietal lobe or temporal lobe, 1 case involved both frontal lobe and parietal lobe, and otherwise multiple lobes were involved in 1 case. Contrast enhancement could be observed in 2 cases. Pathological examination showed that glioblastoma was the most common entity, with or without primitive neuronal component. All 5 cases showed that H3 G34R was diffusely positive in tumor nuclei with ATRX loss. Moreover, p53 was overexpressed in 4 cases. None of them showed Olig2 expression. Two patients showed disease progression after surgery at 18 months and 24 months, respectively. The latter of the two deceased 3 months after tumor progression. Conclusions: The clinicopathological and molecular genetics features of high-grade gliomas with H3 G34R mutation have relatively similar clinicopathological and genetic features, and more commonly seen in young adults (vs. older adults). Thus, these tumors may be discussed further as a distinct tumor entity.
Asunto(s)
Glioma , Histonas , Mutación , Adolescente , Adulto , Anciano , China , Femenino , Glioma/genética , Histonas/genética , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
Objective: To investigate the expression of LC3B, p-AMPKα and p27 in cortical tuberous sclerosis complex (TSC). Methods: Nineteen specimens of surgically resected TSC cortical tubers were collected at Xuanwu Hospital, Capital Medical University, from 2014 to 2017. The expression of the three proteins in the lesions and the adjacent relatively normal regions was detected by immunohistochemical staining (EnVision two-step method). Results: LC3B was mainly expressed in the dysmorphic neuron and giant cell in TSC cortical tubers and in the adjacent relatively normal neurons, and the expression was diffuse or perinuclear cytoplasmic. There was no significant difference in the average optical density between abnormal cells and neurons adjacent to the lesions (0.343±0.195 vs. 0.419±0.088, P>0.05). p-AMPKα was localized in the cytoplasm of dysmorphic neurons and giant cell in TSC cortical tubers. The average optical density of abnormal cells in the lesions was significantly higher than that of neurons adjacent to the lesions (0.306±0.123 vs. 0.233±0.654, P<0.05). P27 showed nuclear positivity, mainly expressed in the neurons and glial cells close to TSC cortical tubers, while the positive rate in the abnormal cells in TSC cortical tubers was low (15/19 vs. 7/19, P<0.05). Conclusion: There is no significant decrease in the level of autophagy in dysmorphic neurons and giant cells in TSC cortical tubers, which may be related to the compensatory mechanism of AMPK signaling pathway, but without activation of downstream p27.
Asunto(s)
Proteínas Relacionadas con la Autofagia/metabolismo , Inhibidor p27 de las Quinasas Dependientes de la Ciclina/metabolismo , Proteínas Asociadas a Microtúbulos/metabolismo , Proteínas Quinasas/metabolismo , Esclerosis Tuberosa/metabolismo , Quinasas de la Proteína-Quinasa Activada por el AMP , Corteza Cerebral/patología , Humanos , Neuroglía/metabolismo , Neuronas/metabolismoRESUMEN
Objective: To investigate the prognostic impact of alterations of epidermal growth factor receptor(EGFR) and MGMT in glioblastoma. Methods: The retrospective study included 161 supratentorial glioblastomas diagnosed in the Department of Pathology, Xuanwu Hospital, Capital Medical University from 2009 to 2015. EGFR and EGFRvâ ¢ protein expression was detected by immunohistochemistry; EGFR amplification was detected by fluorescence in situ hybridization; MGMT promoter methylation was detected by pyrosequencing. The change of molecular genetics EGFR and MGMT and outcome were assessed statistically. Results: There were 161 patients, including 85 (52.8%) males and 76 (47.2%) females. The mean age was 53 years, and the median overall survival was 13 months. The integrated classification of glioblastoma included 16 IDH-mutant, 134 wild type, and 11 NOS. The rate of overexpression of EGFR protein was 32.9%(53/161), and that of EGFR amplification was 37.5%(18/48). There was high concordance between immunohistochemistry and FISH(85.4%, Kappa=0.475, P<0.01) and between the level of EGFR protein and EGFR amplification (P<0.01). Twelve cases showed EGFRvâ ¢ expression, and all also showed EGFR protein overexpression; 149 cases were EGFRv â ¢ wild type, and EGFR protein overexpression was seen in 27.5%(41/149) of cases. There was no correlation between EGFR and EGFRv â ¢ expression. Of all cases, 70.2%(106/151) showed MGMT promoter methylation by pyrosequencing. The changes of molecular genetics of EGFR and MGMT were not related. EGFR amplification and protein overexpression had no significant relationship with prognosis. Patients with EGFRv â ¢-mutant had shorter survival time than the EGFRv â ¢-wild type(P=0.014); patients with MGMT promoter methylation had better prognosis than without (PFS:P=0.002,OS:P=0.006),and MGMT promoter methylation was an independent predictor for overall survival (HR=0.269, 95%CI 0.124-0.583, P=0.001). Conclusions: EGFR protein expression by immunohistochemistry correlates with the status of EGFR amplification. Patients with EGFRv â ¢-mutant tumors have poorer prognosis than that with EGFRv â ¢-wild type tumors. MGMT promoter methylation is closely associated with prognosis and an independent predictor for overall survival.
Asunto(s)
Metilasas de Modificación del ADN/metabolismo , Enzimas Reparadoras del ADN/metabolismo , Receptores ErbB/metabolismo , Glioblastoma/metabolismo , Neoplasias Supratentoriales/metabolismo , Proteínas Supresoras de Tumor/metabolismo , Adulto , Biomarcadores de Tumor/metabolismo , Metilasas de Modificación del ADN/genética , Enzimas Reparadoras del ADN/genética , Receptores ErbB/genética , Femenino , Amplificación de Genes , Glioblastoma/genética , Humanos , Hibridación Fluorescente in Situ , Masculino , Metilación , Persona de Mediana Edad , Pronóstico , Regiones Promotoras Genéticas , Estudios Retrospectivos , Neoplasias Supratentoriales/genética , Proteínas Supresoras de Tumor/genéticaAsunto(s)
Neoplasias Encefálicas , Glioma , Neoplasias Pulmonares , Humanos , Lactante , Proteínas Tirosina Quinasas , Proteínas Proto-Oncogénicas , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirugía , Glioma/genética , Glioma/cirugía , Proteínas de Fusión Oncogénica/genéticaRESUMEN
Objective: To investigate the clinicopathologic characteristics and BRAF V600E mutation of brain tumors associated with epilepsy. Methods: Totally 250 patients with brain tumors associated with epilepsy were included from March 2008 to August 2017 retrospectively at Sanbo Brain Hospital, Capital Medical University.The clinical manifestations, histological features and BRAF V600E mutation results were collected and analyzed. Results: There were 132 males and 118 females, and the male to female ratio was 1.1â¶1.0. The age of patients ranged from 2 to 67 years(mean 22 years). The tumors had obvious local space occupying effect on MRI. The temporal lobe was the most common site (44.4%, 111/250). There were 58.4% (146/250) of ganglioglioma (GG), 24.0% (60/250) of dysembryoplastic neuroepithelial tumor (DNT), 12.8% (32/250) of pleomorphic xanthoastrocytoma(PXA), 4.0% (10/250) of angiocentric glioma (AG) and 0.8% (2/250) of papillary glioneuronal tumor (PGNT). Mixed GG, PXA and DNT morphological structures were found in 9 of patients. Among 250 cases, 35 cases were accompanied by focal cortical dysplasia(FCD). BRAF V600E was seen in 43 of 74 (58.1%) GG and 13 of 28 (46.4%) PXA. The most common pathologic grade of GG, DNT, AG and PGNT was WHO I. Some of the tumor cells from GG (34 cases) showed higher proliferative activity (WHO â ¡/â ¢). Most cases of PXA were WHOâ ¡and high proliferative activity was seen in nine cases. Conclusions: The association of low-grade glioneuronal tumors with intractable epilepsy was well-recognized. The most common low-grade glioneuronal tumors were GG.GG may occur in any part of the central nervous system, with a predilection for temporal lobe. Each type of low-grade glioneuronal tumors has its own unique histological morphology, but some may show complex features with 2 or 3 mixed components. The occurrence of BRAF V600E mutations in GG is common, and their detection may be valuable for the diagnosis and treatment in GG.
Asunto(s)
Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/genética , Epilepsia Refractaria/etiología , Glioma/genética , Proteínas Proto-Oncogénicas B-raf/genética , Adolescente , Adulto , Anciano , Astrocitoma/complicaciones , Astrocitoma/genética , Astrocitoma/patología , Encéfalo , Neoplasias Encefálicas/patología , Niño , Preescolar , Femenino , Ganglioglioma/complicaciones , Ganglioglioma/genética , Ganglioglioma/patología , Glioma/complicaciones , Glioma/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Neoplasias Neuroepiteliales/complicaciones , Neoplasias Neuroepiteliales/genética , Neoplasias Neuroepiteliales/patología , Estudios Retrospectivos , Lóbulo Temporal , Adulto JovenRESUMEN
Objective: To investigate the clinicpathologic features and probable mechanisms of massive subcortical heterotopia. Methods: Clinical data, histologic features and neuropathologic data were analyzed in five cases of massive subcortical heterotopia collected from Xuanwu Hospital, Capital Medical University from January 2014 to October 2017. Results: All five patients (three males and two females) had a history of refractory epilepsy with a mean period of 15.4 years (range 7 to 21 years). The median age at surgery was 28.6 years(range 20 to 39 years). Magnetic resonance imaging showed that the lesions were located in the temporal lobe (two cases), parietal lobe (one case), both temporal and occipital lobes (one case) and both temporal and parietal lobes (one case). Pathologic examination disclosed that massive gray matter in subcortical and deep white matter with various shape and size. Moreover, one case also showed subpial and periventricular heterotopias and polymicrogyria. Polymicrogyria or hippocampal sclerosis were seen in the remaining three cases. None of the five patients experienced seizure attacks during the follow-up period. Conclusions: Heterotopia is malformations due to abnormal neuronal migration. Massive subcortical heterotopia due to widespread abnormal neuronal migration is relatively rare. The mechanism of heterotopia together with polymicrogyria needs further discussion.
Asunto(s)
Corteza Cerebral , Coristoma , Lóbulo Occipital , Lóbulo Parietal , Lóbulo Temporal , Adulto , Coristoma/diagnóstico por imagen , Coristoma/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Lóbulo Occipital/diagnóstico por imagen , Lóbulo Occipital/patología , Lóbulo Parietal/diagnóstico por imagen , Lóbulo Parietal/patología , Lóbulo Temporal/diagnóstico por imagen , Lóbulo Temporal/patología , Adulto JovenRESUMEN
Objective: To investigate the usefulness of loss of CIC expression as the prescreening detection of 1p/19q co-deletion in the diagnosis of oligodendroglial tumors and its prognostic implication. Methods: The retrospective study included 113 oligodendroglial tumors diagnosed in the Department of Pathology, Xuanwu Hospital, Capital Medical University. Expression of CIC protein was detected by immunohistochemistry, and the 1p/19q co-deletion by fluorescence in situ hybridization in all the tumors; and the correlation of the loss of protein and 1p/19q co-deletion with prognosis was assessed. Results: The rate of negative CIC protein expression was 59.3% (67/113) in 113 oligodendroglial tumors. CIC protein expression was differentially lost in various gliomas, 85.7% (42/49) in pure oligodendrogliomas and 39.1% (25/64) in mixed oligodendroglial tumors (P<0.01). The loss of CIC protein expression showed a sensitivity of 76.1% (54/71), specificity 71.1% (27/38), false positive rate of 16.9% (11/65), and a false negative rate of 38.6% (17/44). In 63 cases integrated diagnosis as oligodendroglial tumors with mutant IDH and 1p/19q co-deletion, the loss of CIC protein expression was 81.0% (51/63); the sensitivity and specificity were increased to 81.0% (51/63) and 76.9% (20/26), and the false positive rate and false negative rate decreased to 10.5% (6/57) and 37.5% (12/32), respectively. By using Kaplan-Meier analysis, the CIC negative group showed a trend towards better outcome than the CIC positive group, but there was no statistical difference (overall survival: P=0.218; progression free survival: P=0.249). Conclusions: Detection of the lost CIC protein expression can predict the chromosome 1p/19q co-deletion. In oligodendroglial tumors with IDH mutant and 1p/19q co-deletion, there is no relation between prognosis and CIC protein expression.
Asunto(s)
Neoplasias Encefálicas/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 1/genética , Proteínas de Neoplasias/análisis , Oligodendroglioma/diagnóstico , Proteínas Represoras/análisis , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/mortalidad , Humanos , Hibridación Fluorescente in Situ , Estimación de Kaplan-Meier , Proteínas de Neoplasias/genética , Oligodendroglioma/genética , Oligodendroglioma/metabolismo , Oligodendroglioma/mortalidad , Pronóstico , Proteínas Represoras/genética , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
Objective: To investigate the diagnostic and prognostic implications of ATRX mutation and p53 mutation in patients with glioma. Methods: The clinicopathologic and molecular features of Chinese adult glioma patients, including diffuse and anaplastic astroastrocytoma with IDH mutation, oligodendroglioma and anaplastic oligodendroglioma with IDH mutation and 1p/19q co-deletion and diffuse astroastrocytoma with IDH wild type were reviewed and tested for ATRX loss expression and p53 overexpression. Results: Loss of ATRX expression was seen in 85.19% (23/27) diffuse and anaplastic astroastrocytoma with IDH mutation, higher than that of oligodendroglial tumors (0/53; P<0.01). Loss of ATRX expression was strongly linked to p53 overexpression(69.57%, 16/23). The patients who lost ATRX expression combined with normal p53 expression survived longer(P=0.013). Conclusions: ATRX mutation is a molecular marker for astrocytic tumors. ATRX mutation combined with p53 mutation can predict prognosis of patients with glioma.
Asunto(s)
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Genes p53/genética , Glioma/diagnóstico , Glioma/genética , Mutación/genética , Proteína Nuclear Ligada al Cromosoma X/genética , Adulto , Humanos , Oligodendroglioma/diagnóstico , Oligodendroglioma/genética , Pronóstico , Proteína p53 Supresora de Tumor/metabolismo , Proteína Nuclear Ligada al Cromosoma X/metabolismoRESUMEN
Objective: To evaluate cytological test of cerebrospinal fluid in the diagnosis of meningeal dissemination of tumor cells. Methods: The clinical and imaging features of 85 cases with tumor cells diagnosed by thin-layer centrifugal cytological test of cerebrospinal fluid were retrospectively reviewed. The characteristics of cellular morphology and immunocytochemical staining were analyzed. Results: The main presentations of all the patinets was meningeal irritation and neurological dysfunction. The features of the brain MRI were meningeal thicking and enhancement, intracranial abnormal signals and intracranial space occupying lesion in part of the patients. Atypical cells were found in 84 cases (98.8%) with the first sample test and immunocytochemical staining was conducted in 48 cases to identify the tissue origin. Meningeal carcinomatosis was shown to be the majority with lung cancer as the dominated tissue type and adenocarcinoma as the most common histological type. Others were lymphatic hematopoietic system (13 cases), melanomas(5 cases), primitive neuroectodermal tumor (3 cases) and glioma (1 case). In addition, 12 cases were only proved to be cancer by cytological test of cerebrospinal fluid. Conclusion: The thin-layer centrifugal cytological test of cerebrospinal fluid has a relatively high accuracy for detecting disseminated tumor cells of meninges and could be of great help to identify the source and type of lesion with immunocytochemical staining.