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1.
Zhonghua Yi Xue Za Zhi ; 100(3): 178-181, 2020 Jan 21.
Artigo em Chinês | MEDLINE | ID: mdl-32008282

RESUMO

Objective: To evaluate the classification of the types of pediatric posterior fossa brain tumors based on routine MRI (T(1)WI, T(2)WI and ADC) using wavelet transformation analysis of whole tumor. Methods: MRI images of medulloblastoma (n=59), ependymoma (n=13) and pilocytic astrocytoma (n=27) confirmed by pathology before treatments in Children's Hospital of Nanjing Medical University from January 2014 to February 2019 were enrolled in this retrospective study as well as the clinical data of age, gender and symptoms. Registration was performed among the three sequences and wavelet features of ROI were acquired. Afterwards, the top ten features were ranked and trained among groups by using random forest classifier. Finally, the results were compared and analyzed according to the classification. Results: The top ten contribution three sequences and wavelet features of ROI were acquired from the ADC sequence. The random forest classifier achieved 100% accuracy on training data and was validated best accuracy (86.8%) when combined of first and third wavelet features. The sensitivity was 100%, 94.8%, 76.9%, and the specificity was 97.6%, 88.0%, 98.8% respectively. Conclusions: Features based on wavelet transformation of ADC sequence of entire tumor can provide more quantitative information, which could provide help in the differential diagnosis of pediatric posterior fossa brain tumors. The optimum combination to distinguish three pediatric posterior fossa brain tumors is sixth and twelfth wavelet features of ADC sequence.


Assuntos
Astrocitoma/classificação , Neoplasias Cerebelares/patologia , Neoplasias Infratentoriais/patologia , Imagem por Ressonância Magnética/métodos , Meduloblastoma/classificação , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Criança , Humanos , Meduloblastoma/patologia , Estudos Retrospectivos
2.
Nat Commun ; 11(1): 583, 2020 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-31996670

RESUMO

Medulloblastoma (MB) is the most common malignant brain tumor in children and among the subtypes, Group 3 MB has the worst outcome. Here, we perform an in vivo, patient-specific screen leading to the identification of Otx2 and c-MYC as strong Group 3 MB inducers. We validated our findings in human cerebellar organoids where Otx2/c-MYC give rise to MB-like organoids harboring a DNA methylation signature that clusters with human Group 3 tumors. Furthermore, we show that SMARCA4 is able to reduce Otx2/c-MYC tumorigenic activity in vivo and in human cerebellar organoids while SMARCA4 T910M, a mutant form found in human MB patients, inhibits the wild-type protein function. Finally, treatment with Tazemetostat, a EZH2-specific inhibitor, reduces Otx2/c-MYC tumorigenesis in ex vivo culture and human cerebellar organoids. In conclusion, human cerebellar organoids can be efficiently used to understand the role of genes found altered in cancer patients and represent a reliable tool for developing personalized therapies.


Assuntos
Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Neoplasias Cerebelares/metabolismo , Neoplasias Cerebelares/patologia , Meduloblastoma/metabolismo , Meduloblastoma/patologia , Organoides/metabolismo , Organoides/patologia , Benzamidas/antagonistas & inibidores , Carcinogênese , Linhagem Celular Tumoral , Neoplasias Cerebelares/genética , DNA Helicases/genética , DNA Helicases/metabolismo , Metilação de DNA , Proteína Potenciadora do Homólogo 2 de Zeste/antagonistas & inibidores , Regulação Neoplásica da Expressão Gênica , Humanos , Meduloblastoma/genética , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Fatores de Transcrição Otx/genética , Fatores de Transcrição Otx/metabolismo , Proteínas Proto-Oncogênicas c-myc/genética , Proteínas Proto-Oncogênicas c-myc/metabolismo , Piridonas/antagonistas & inibidores , Células-Tronco , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
3.
World Neurosurg ; 135: e488-e493, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31843724

RESUMO

BACKGROUND: Vestibular schwannoma (VS) is the most common benign tumor originating in the cerebellopontine angle. In most cases, tumors tend to grow and deserve proper treatment. Sometimes they stabilize, and rarely they decrease in size spontaneously. METHODS: We evaluated retrospectively the images of patients with spontaneous tumor regression. We describe the common neuroimage findings of patients with spontaneous tumoral regression. RESULTS: Four patients with diagnosis of VS were followed with magnetic resonance imaging (MRI). There were some relevant features in MRI: a heterogeneous contrast enhancement in the outer layer of the tumor and presence of a cerebrospinal fluid column between the tumor and the entrance of the internal auditory canal. The percentage of tumor diameter reduction ranged from 20% to 40%. CONCLUSIONS: Some MRI features may demonstrate a spontaneous involution of VS and may be closely followed in asymptomatic or oligosymptomatic patients.


Assuntos
Neoplasias Cerebelares/patologia , Ângulo Cerebelopontino/patologia , Neuroma Acústico/patologia , Adulto , Idoso , Neoplasias Cerebelares/complicações , Feminino , Perda Auditiva/etiologia , Perda Auditiva/patologia , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Regressão Neoplásica Espontânea/patologia , Neuroma Acústico/complicações , Estudos Retrospectivos , Zumbido/etiologia , Zumbido/patologia
4.
Prague Med Rep ; 120(2-3): 95-102, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31586508

RESUMO

Malignant transformation of an epidermoid tumour is a rare entity that in almost all patients occurs at the same site of the primary lesion. We report a case of an epidermoid tumour with malignant transformation to squamous cell carcinoma (SCC) at the adjacent site but without any relation to the primary site of the tumour. A 30-year-old patient with a history of cranial surgery and resection of cerebellopontine (CP) angle epidermoid cyst five years ago, presented with a headache, nausea, and vomiting. Physical examination showed no neurological deficit. The brain magnetic resonance imaging (MRI) demonstrated a well-defined lesion within left middle cerebellar peduncle with no relation to CP angle cistern (the previous tumour site). It was isointense on T1, isointense on T2 and had a rim enhancement on gadolinium (GD) injection. Via retrosigmoid and transcortical approach, total resection of the tumour was performed. During the surgery, there was no visible relationship between the current lesion and the previously resected lesion site. Histopathology revealed squamous cell carcinoma. The systemic survey to finding a probable origin of the tumour was negative and the patient referred for performing brain radiotherapy. We are reporting a case of malignant transformation of epidermoid cyst separate from primary location. Moreover, malignant transformation can occur years after index surgery even after gross total resection.


Assuntos
Carcinoma de Células Escamosas/patologia , Transformação Celular Neoplásica , Neoplasias Cerebelares/patologia , Ângulo Cerebelopontino/patologia , Cisto Epidérmico/patologia , Adulto , Humanos , Imagem por Ressonância Magnética
5.
Pan Afr Med J ; 33: 118, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31489096

RESUMO

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. We present the case of bilateral cerebellar location of this pathology in a 50-year-old man presented with a progressive onset and worsening of headaches accompanied by nuchal rigidity, photophobia and nausea awakening each morning. Upon physical examination, the patient was awake with a discrete right vestibular syndrome made of positive Romberg without nystagmus. Magnetic Resonance Imaging (MRI) was performed and revealed salient "tiger stripe" appearance of the bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.


Assuntos
Neoplasias Cerebelares/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Neoplasias Cerebelares/patologia , Síndrome do Hamartoma Múltiplo/patologia , Cefaleia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Rigidez Muscular/etiologia , Náusea/etiologia , Fotofobia/etiologia
6.
J Neurooncol ; 145(1): 107-114, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31468270

RESUMO

PURPOSE: Children with recurrent medulloblastoma have a poor prognosis. Re-irradiation is an option for some patients, but has not been well-studied in the era of molecular characterization for pediatric medulloblastoma. METHODS: This was a retrospective cohort study of 14 children age 18 years and younger at initial diagnosis with recurrent medulloblastoma, who received two or more courses of radiation therapy (RT). Molecular subgrouping was performed using nanoString and was available for nine patients. The primary study endpoint was overall survival. RESULTS: Re-irradiation (RT2) was directed at the supratentorial brain in six patients, infratentorial brain in one patient, and spine in seven patients. In addition, six patients received stem cell transplant as part of salvage therapy. Median OS for all patients was 12.4 months. One patient with recurrent Wnt-activated medulloblastoma remains alive with 154 months' survival; median survival was not reached for four patients with Group 4 disease, while three with Shh-activated disease had median survival of 2.2 months. A single patient with Group 3 disease died 4.3 months after RT2. Patients treated with RT2 to the spine for diffuse disease had poorer OS (p = 0.02), as compared to focal RT2 for intracranial recurrence. Distant failure, outside RT2 volumes, was the predominant pattern of recurrence after RT2. CONCLUSIONS: Re-irradiation for recurrent pediatric medulloblastoma can offer some patients disease control, particularly those with focally recurrent disease in the brain. Prospective studies are needed to confirm subgroups of patients who may benefit most from RT2.


Assuntos
Neoplasias Cerebelares/radioterapia , Meduloblastoma/radioterapia , Reirradiação/métodos , Terapia de Salvação , Adolescente , Adulto , Neoplasias Cerebelares/patologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Meduloblastoma/patologia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Adulto Jovem
7.
Medicine (Baltimore) ; 98(32): e16756, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31393392

RESUMO

RATIONALE: In some cases, surgery of cerebellopontine angle meningioma (CPAM) might result in multiple cranial nerve injury, which could bring serious impact on the patients, especially when it affects the function of facial muscles and eyeballs. This report describes a successful application of acupuncture for rehabilitation in a patient after surgery for CPAM. PATIENT CONCERNS: A 27-year-old patient presented with limitation of left eye abduction, accompanied with frontal and facial sensory disturbance on the left after resection of the pontocerebellar angle tumor. The patient also suffered from significant anxiety and depression as concomitant symptoms. DIAGNOSES: Based on medical history, clinical symptoms, and magnetic resonance imaging results, the patient was diagnosed with the fourth, fifth, sixth, and seventh cranial nerve injury after surgery for CPAM. INTERVENTIONS: Acupuncture treatment was applied for this patient. One acupuncture session was given every 2 days in 35 days, and the needles were retained for 30 minutes per session. OUTCOMES: After acupuncture treatment, the limitation of left eye abduction had totally recovered. The superficial sensory disturbance in the frontal and facial region was significantly relived. Besides, the scores of Hamilton Anxiety and Depression Scale showed a significant reduction. However, the superficial sensory of the alar and nasolabial groove on the left side still decreased mildly when compared with the right side. CONCLUSION: Acupuncture might be an option for rehabilitation after surgery for CPAM.


Assuntos
Terapia por Acupuntura/métodos , Neoplasias Cerebelares/cirurgia , Traumatismos dos Nervos Cranianos/reabilitação , Meningioma/cirurgia , Adulto , Neoplasias Cerebelares/patologia , Ângulo Cerebelopontino/patologia , Traumatismos dos Nervos Cranianos/etiologia , Humanos , Imagem por Ressonância Magnética , Masculino
8.
BMJ Case Rep ; 12(7)2019 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-31320371

RESUMO

We report the first clinical case on the successful use of proton beam therapy in the management of malignant transformation of intracranial epidermoid cyst. A 43-year-old man was initially diagnosed as this disease with left facial paresis, hypesthesia and hypoalgesia in the territories of the trigeminal nerve. After failure of surgical interventions, he was referred to our radiation centre. We performed a postoperative proton beam therapy for treatment. We delivered a total dose of 57 GyE in 31 fractions. He tolerated the treatment well with mild acute toxicities and remained healthy and functional by 2-year follow-up postradiotherapy. No evidence of delayed radiation-induced neurotoxicity was observed.


Assuntos
Cistos do Sistema Nervoso Central/radioterapia , Neoplasias Cerebelares/radioterapia , Cisto Epidérmico/radioterapia , Carcinoma de Células Escamosas de Cabeça e Pescoço/radioterapia , Adulto , Transformação Celular Neoplásica , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/cirurgia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/cirurgia , Ângulo Cerebelopontino , Cisto Epidérmico/diagnóstico por imagem , Cisto Epidérmico/patologia , Cisto Epidérmico/cirurgia , Humanos , Imagem por Ressonância Magnética , Masculino , Procedimentos Neurocirúrgicos , Terapia com Prótons , Carcinoma de Células Escamosas de Cabeça e Pescoço/diagnóstico por imagem , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/cirurgia
10.
World Neurosurg ; 130: 378-379, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31306840

RESUMO

Vestibular schwannomas (VSs) are rare in children and, when present, are usually part of neurofibromatosis 2 and bilateral. Sporadic unilateral VSs in the pediatric age group itself are rare in medical literature and giant sporadic unilateral pediatric VSs (>4 cm) are extremely rare. Herein, we describe the largest reported case of giant sporadic left-sided VS in a 10-year-old boy.


Assuntos
Neoplasias Cerebelares/patologia , Neuroma Acústico/patologia , Ângulo Cerebelopontino/patologia , Criança , Humanos , Masculino , Tratamentos com Preservação do Órgão/métodos , Resultado do Tratamento , Carga Tumoral
11.
J Neurooncol ; 144(2): 283-291, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31236820

RESUMO

PURPOSE: To report outcomes of salvage re-irradiation (re-RT) in recurrent/progressive medulloblastoma (MB). METHODS: Medical records of patients treated with curative-intent re-RT as multi-modality management for recurrent/progressive MB between 2008 and 2018 were analyzed retrospectively. RESULTS: A total of 28 patients (median age 18 years at index diagnosis) were included. Molecular subgrouping was done using real-time reverse transcriptase polymerase chain reaction (RT-PCR) based on the differential expression of select set of 12 protein coding genes and 9 microRNAs. Fifteen of 17 (88%) patients with sonic hedgehog (SHH)-MB developed isolated local recurrence within the index tumor-bed, while 5 of 7 (72%) patients with Group 4 MB developed localized relapse outside the posterior fossa. Diffuse neuraxial dissemination was seen in 2 patients with SHH-MB, and one each of Group 4 and wingless (WNT)-MB. Molecular subgrouping was not known in 3 patients. The dose and volume of re-RT was based on site and patterns of relapse, comprising unifocal in 18 (64%), multi-focal in 3 (11%), and repeat craniospinal irradiation (re-CSI) in 7 (25%) patients. Median interval from primary irradiation to re-RT was 49.5 months (range 24-98 months) with median cumulative biologically effective dose of 117 Gy (range 78-132 Gy). All patients received platinum-based salvage chemotherapy either before or after re-RT. One patient developed symptomatic radiation necrosis following re-CSI. At a median follow-up of 24 months (range 6-84 months), 2-year post-re-RT progression-free survival (PFS) and overall survival (OS) was 46% and 51% respectively. Younger age (< 18 years) at index diagnosis, primary risk stratification (standard-risk) and molecular subgrouping (Group 4) were associated with significantly better post-re-RT outcomes. CONCLUSION: Salvage re-RT provides good local control and encouraging survival outcomes with acceptable toxicity in selected patients with recurrent/progressive MB.


Assuntos
Neoplasias Cerebelares/mortalidade , Meduloblastoma/mortalidade , Recidiva Local de Neoplasia/mortalidade , Reirradiação/mortalidade , Medição de Risco/métodos , Terapia de Salvação , Adolescente , Adulto , Fatores Etários , Neoplasias Cerebelares/classificação , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/radioterapia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Meduloblastoma/classificação , Meduloblastoma/patologia , Meduloblastoma/radioterapia , Recidiva Local de Neoplasia/classificação , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/radioterapia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Adulto Jovem
12.
World Neurosurg ; 129: 421-427, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31254700

RESUMO

BACKGROUND: Herpes simplex encephalitis caused by herpes simplex has an estimated annual prevalence in the order of 1 in 250,000 to 500,000 patients and is considered to be the most usually encountered nonendemic pathogenic cause of lethal encephalitis in well-developed countries. There are a few cases reported in the literature in which a diagnostic dilemma between was raised between herpes simplex encephalitis and brain glioma and a definitive diagnosis was difficult to obtain. CASE DESCRIPTION: We report the case of a 5-year-old girl with a previous medical history of premature thelarche. As a part of her investigation, magnetic resonance imaging of the brain was performed, which revealed a space-occupying lesion of the posterior fossa. Magnetic resonance spectroscopy was performed, which advocated for the diagnosis of glioma. She was operated on, but the histopathologic analysis failed to verify the imaging findings. Herpes simplex virus (HSV) 1 was detected in cerebrospinal fluid (CSF) samples. Follow-up magnetic resonance imaging scans illustrated the progression of the disease. CONCLUSIONS: The accumulation of data regarding CSF sample analysis, electroencephalography, brain biopsy, and imaging findings, along with the progression of the clinical picture of our patient, verified the diagnosis of HSV encephalitis. When confronted with confounding data that can pose a diagnostic dilemma between HSV encephalitis and glioma, brain biopsy and polymerase chain reaction of CSF samples could be able to verify the definitive diagnosis. When interpreting our results, we always have to consider the evolution of the clinical picture.


Assuntos
Neoplasias Cerebelares/diagnóstico , Erros de Diagnóstico , Encefalite por Herpes Simples/diagnóstico , Encefalite por Herpes Simples/patologia , Glioma/diagnóstico , Neoplasias Cerebelares/patologia , Pré-Escolar , Feminino , Glioma/patologia , Humanos
13.
J Neurooncol ; 144(1): 147-154, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31201685

RESUMO

BACKGROUND: The growth rate and natural history of untreated hemangioblastomas remain unclear. This study investigated the natural history of untreated intracranial hemangioblastomas and predictors of tumor growth using volumetric assessment. METHOD: This study retrospectively enrolled 31 patients with untreated hemangioblastomas between 2004 and 2017 who were followed up for at least 12 months. The 31 patients had a total of 52 hemangioblastomas. RESULTS: The 31 patients included 11 (35.5%) men and 20 (64.5%) women, of mean age 42.5 years. Seventeen (54.8%) patients were genetically diagnosed with Von Hippel-Lindau (VHL) disease. Of the 52 lesions, 33 (63.5%) grew during the follow-up period, whereas 19 (36.5%) remained stable. Overall mean actual growth rate (AGR) was 1.94 cm3/year, 2.38 cm3/year in the VHL and 1.79 cm3/year in the non-VHL group (p = 0.31). Overall mean relative growth rate (RGR) was 21%/year, 26%/year in the VHL and 19%/year in the non-VHL group. Time to 50% treatment probability was 34 months. The 1, 3, 5, and 7-year treatment probabilities were 11.5%, 50.1%, 52.7%, and 73%, respectively. The presence of only symptomatic lesions was significantly predictive of the growth of intracranial hemangioblastoma (odds ratio: 5.0, p = 0.02). CONCLUSION: The overall growth rate of intracranial hemangioblastoma was faster than that of other benign intracranial tumors, with symptomatic lesions being the only meaningful predictor of tumor growth. Because of their rapid growth rate and high probability of treatment, a wait and scan management strategy should be carefully applied to intracranial hemangioblastomas.


Assuntos
Neoplasias Cerebelares/patologia , Hemangioblastoma/patologia , Carga Tumoral , Doença de von Hippel-Lindau/complicações , Adolescente , Adulto , Idoso , Neoplasias Cerebelares/etiologia , Neoplasias Cerebelares/cirurgia , Criança , Feminino , Seguimentos , Hemangioblastoma/etiologia , Hemangioblastoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Taxa de Sobrevida , Adulto Jovem
14.
J Neurooncol ; 143(3): 393-403, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31104222

RESUMO

INTRODUCTION: Molecular classification of medulloblastomas (MB) is prognostically and therapeutically relevant and helps in better risk-stratification. Translation of this subgrouping to routine practice still remains a challenge. The most pathologist accessible techniques for molecular subgrouping include immunohistochemistry (IHC), fluorescent in-situ hybridization (FISH) and NanoString. OBJECTIVES: (1) Molecular subgrouping of MBs by IHC and FISH, and NanoString assay (2) To compare their efficacy and cost for applicability in resource constrained centers. METHODS: Ninety-five cases of MB with adequate tissue were included. Molecular subgrouping was performed by IHC for ß-catenin, GAB1 and YAP1; FISH for MYC amplification, and sequencing for CTNNB1, and by NanoString Assay on the same set of MBs. A subset of cases was subjected to 850k DNA methylation array. RESULTS: IHC + FISH classified MBs into 15.8% WNT, 16.8% SHH, and 67.4% non-WNT/non-SHH subgroups; with MYC amplification identified in 20.3% cases of non-WNT/non-SHH. NanoString successfully classified 91.6% MBs into 25.3% WNT, 17.2% SHH, 23% Group 3 and 34.5% Group 4. However, NanoString assay failure was seen in eight cases, all of which were > 8-years-old formalin-fixed paraffin-embedded tissue blocks. Concordant subgroup assignment was noted in 88.5% cases, while subgroup switching was seen in 11.5% cases. Both methods showed prognostic correlation. Methylation profiling performed on discordant cases revealed 1 out of 4 extra WNT identified by NanoString to be WNT, others aligned with IHC subgroups; extra SHH by NanoString turned out to be SHH by methylation. CONCLUSIONS: Both IHC supplemented by FISH and NanoString are robust methods for molecular subgrouping, albeit with few disadvantages. IHC cannot differentiate between Groups 3 and 4, while NanoString cannot classify older-archived tumors, and is not available at most centres. Thus, both the methods complement each other and can be used in concert for high confidence allotment of molecular subgroups in clinical practice.


Assuntos
Neoplasias Cerebelares/classificação , Imuno-Histoquímica/métodos , Hibridização in Situ Fluorescente/métodos , Meduloblastoma/classificação , Nanotecnologia/métodos , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Neoplasias Cerebelares/genética , Neoplasias Cerebelares/metabolismo , Neoplasias Cerebelares/patologia , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Metilação de DNA , Feminino , Seguimentos , Recursos em Saúde , Humanos , Lactente , Masculino , Meduloblastoma/genética , Meduloblastoma/metabolismo , Meduloblastoma/patologia , Pessoa de Meia-Idade , Prognóstico , Taxa de Sobrevida , Adulto Jovem
15.
World Neurosurg ; 128: 230-233, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31082554

RESUMO

BACKGROUND: Pilocytic astrocytoma is a benign glial tumor typically presenting in children. It is rare for adults to present with pilocytic astrocytoma and even less likely to manifest with multiple foci of lesions especially in nonoptic or hypothalamic locations. CASE DESCRIPTION: Our patient was a 37-year old man presenting with varied cranial neuropathies, cerebellar dysfunction, and long tract signs, with imaging demonstrating 3 discrete ill-defined contrast-enhancing lesions affecting the cerebellar peduncles, brainstem, and cervicomedullary junction. Neuronavigation-guided biopsy confirmed World Health Organization grade 1 pilocytic astrocytoma; the patient was treated with radiotherapy. CONCLUSIONS: To our knowledge, we believe this is the first reported case with multifocal infratentorial pilocytic astrocytoma on presentation in an adult patient in the absence of a prior history of associated risk factors such as neurofibromatosis 1 or chemoradiotherapeutic intervention.


Assuntos
Astrocitoma/diagnóstico por imagem , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Adulto , Astrocitoma/patologia , Astrocitoma/radioterapia , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/patologia , Neoplasias do Tronco Encefálico/radioterapia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/radioterapia , Humanos , Biópsia Guiada por Imagem , Neoplasias Infratentoriais/patologia , Neoplasias Infratentoriais/radioterapia , Imagem por Ressonância Magnética , Masculino , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/radioterapia , Neuronavegação , Radioterapia
16.
World Neurosurg ; 128: e835-e840, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31082560

RESUMO

OBJECTIVE: Meningeal melanocytomas of the central nervous system are extremely rare, with an incidence of 1 per 10 million individuals. Cases of primary cerebellopontine angle melanocytoma (PCPAM) have only been described in single case reports. The goal of the present study was to analyze the surgical management of PCPAM, with a particular focus on early and late treatment outcomes and recurrence rates. METHODS: The patients who had undergone surgery for PCPAM from January 2004 to May 2018 were identified by a local database query. The patients were evaluated for initial symptoms, pre- and postoperative facial and cochlear nerve function, complications, and recurrence rate by reviewing the patients' medical records. RESULTS: We identified 4 patients with PCPAM of >1500 cerebellopontine angle lesions (∼0.2%) that had been surgically treated at our department in the past 14 years. Of the 4 patients, 2 were men and 2 were women, with a mean age of 47 years. Anatomical facial and cochlear nerve preservation was achieved in all 4 patients. One patient experienced a new moderate facial palsy immediately after surgery (House-Brackmann grade III). Of the 4 patients, 3 had undergone radiotherapy and 1 had undergone ion beam therapy for tumor recurrence (6 years after surgery). Of the 4 patients, 3 had presented with tumor recurrence at 2, 3, and 6 years of follow-up respectively. The long-term follow-up examination had not yet been conducted for 1 patient. CONCLUSIONS: At long-term follow-up, 3 patients had developed recurrence. Because of the high recurrence rate of PCPAM, we believe that radiotherapy in addition to surgery should be considered in the future to avoid early recurrence.


Assuntos
Neoplasias Cerebelares/cirurgia , Ângulo Cerebelopontino/cirurgia , Neurocitoma/cirurgia , Procedimentos Neurocirúrgicos/métodos , Adulto , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/radioterapia , Nervo Coclear , Terapia Combinada , Nervo Facial , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Neurocitoma/patologia , Neurocitoma/radioterapia , Resultado do Tratamento
17.
Nature ; 572(7767): 67-73, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31043743

RESUMO

Study of the origin and development of cerebellar tumours has been hampered by the complexity and heterogeneity of cerebellar cells that change over the course of development. Here we use single-cell transcriptomics to study more than 60,000 cells from the developing mouse cerebellum and show that different molecular subgroups of childhood cerebellar tumours mirror the transcription of cells from distinct, temporally restricted cerebellar lineages. The Sonic Hedgehog medulloblastoma subgroup transcriptionally mirrors the granule cell hierarchy as expected, while group 3 medulloblastoma resembles Nestin+ stem cells, group 4 medulloblastoma resembles unipolar brush cells, and PFA/PFB ependymoma and cerebellar pilocytic astrocytoma resemble the prenatal gliogenic progenitor cells. Furthermore, single-cell transcriptomics of human childhood cerebellar tumours demonstrates that many bulk tumours contain a mixed population of cells with divergent differentiation. Our data highlight cerebellar tumours as a disorder of early brain development and provide a proximate explanation for the peak incidence of cerebellar tumours in early childhood.


Assuntos
Neoplasias Cerebelares/genética , Neoplasias Cerebelares/patologia , Evolução Molecular , Feto/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Regulação Neoplásica da Expressão Gênica , Transcrição Genética , Animais , Neoplasias Cerebelares/classificação , Cerebelo/citologia , Cerebelo/embriologia , Cerebelo/metabolismo , Criança , Feminino , Feto/citologia , Glioma/classificação , Glioma/genética , Glioma/patologia , Humanos , Meduloblastoma/classificação , Meduloblastoma/genética , Meduloblastoma/patologia , Camundongos , Análise de Sequência de RNA , Análise de Célula Única , Fatores de Tempo , Transcriptoma/genética
18.
Klin Onkol ; 32(Supplementum1): 171-173, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31064192

RESUMO

BACKGROUND: Medulloblastoma (MB) is the most common malignant tumour of the central nervous system in children. MB is considered to be high risk tumour propensity to metastasize. In the Czech Republic, approximately 10-12 children are affected annually by this tumour. Recent progress in molecular diagnostics helps to refine the diagnosis and estimate clinical prognosis of the disease. Currently, MBs are subclassified into WNT-activated, SHH-activated, group 3, and 4 based on molecular pathways that drive their tumorigenesis. Each subtype differs in its histopathology, clinical features, genomic changes and gene expressions. The aim of our study is to classify patients MBs into four basic molecular groups and compare our results with published data. MATERIAL AND METHODS: In our study we analysed expression profiles using Affymetrix GeneChip Human Gene 1.0. ST Array (Thermo Fisher Scientific, MA, USA). As input material RNA extracted from the fresh frozen tissue was used. Molecular classification based on the method established by P. Northcott in 2011 was performed. RESULTS: From April 2015 to February 2019, 21 patients with MBs were included in our study. Median age of the patients at the time of diagnosis was 6 years, 14 boys and 7 girls were enrolled. Gene expression profiling and molecular classification of MBs was performed. Based on this methodology, we found the most frequently represented subgroup of MB was group 4 (9 patients, 43%), followed by group 3 (5 patients, 24%), SHH-activated MB (4 patients, 19%) and the least represented subgroup was WNT-activated MB (3 patients, 14%). Results of molecular subgroup classification of MBs were successfully correlated with histopathological findings and other molecular-genetic examinations. CONCLUSION: Molecular classification of MBs has been established in our institution allowing better understanding of this heterogeneous disease and helping clinicians in therapeutic planning in affected patients. This work was supported by the Czech Ministry of Health grant No. 16-33209A. All rights reserved.  he authors declare they have no potential confl icts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 1. 3. 2019 Accepted: 4. 3. 2019.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Cerebelares/classificação , Neoplasias Cerebelares/patologia , Perfilação da Expressão Gênica , Genoma Humano , Meduloblastoma/classificação , Meduloblastoma/patologia , Neoplasias Cerebelares/genética , Criança , Biologia Computacional/métodos , República Tcheca , Feminino , Humanos , Meduloblastoma/genética , Prognóstico
19.
Exp Mol Pathol ; 109: 42-50, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31085184

RESUMO

Subfertility is a major concern of long-term cancer survivors at the reproductive age. We have previously demonstrated that a potent humanin analogue, HNG, protected chemotherapy-induced apoptosis in germ cells but not cancer cells in a metastatic melanoma allograft model. In this study, we utilized severe combined immuno-deficiency (SCID) mice bearing human medulloblastoma to study the effect of HNG in Temozolomide (TMZ) induced male germ cell apoptosis and white blood cell (WBC) suppression. Human medulloblastoma DAOY cells were injected subcutaneously into the right flank of male SCID mice. Three weeks later, groups of tumor-bearing mice received one of the following treatments: vehicle, HNG, TMZ, or TMZ + HNG. 24 h after last injection, the tumors weights, complete blood counts, liver and spleen weights, male germ cell apoptosis was assessed. HNG did not affect TMZ's significant anti-tumor action. HNG significantly prevented TMZ-induced germ cell apoptosis and attenuated the suppressed total WBC and granulocyte counts in SCID mice with or without TMZ treatment. HNG also attenuated TMZ-induced body weight loss and decrease of spleen and liver weights. In conclusion, HNG ameliorated TMZ-induced germ cell apoptosis; WBC and granulocytes loss; and decreased body/organ weights without compromising the TMZ's anti-cancer action on medulloblastoma xenografts in SCID mice.


Assuntos
Apoptose/efeitos dos fármacos , Neoplasias Cerebelares/tratamento farmacológico , Peptídeos e Proteínas de Sinalização Intracelular/farmacologia , Meduloblastoma/tratamento farmacológico , Espermatozoides/efeitos dos fármacos , Temozolomida/farmacologia , Ensaios Antitumorais Modelo de Xenoenxerto/métodos , Animais , Antineoplásicos Alquilantes/farmacologia , Linhagem Celular Tumoral , Neoplasias Cerebelares/patologia , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/química , Fígado/efeitos dos fármacos , Fígado/patologia , Masculino , Meduloblastoma/patologia , Camundongos SCID , Tamanho do Órgão/efeitos dos fármacos , Espermatozoides/citologia , Baço/efeitos dos fármacos , Baço/patologia , Carga Tumoral/efeitos dos fármacos
20.
J Neurosurg Sci ; 63(2): 224-230, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30816685

RESUMO

Desmoid tumors are histologically benign but locally invasive tumors that rarely can occur in the head and neck. In this article, we illustrate a rare case of desmoid tumor formation in intracranial posterior fossa after suboccipital craniotomy for hemangioblastoma. A 43-year-old woman presented with headaches, dizziness, equilibrium disorders, nausea, and vomiting due to a hemangioblastoma in posterior fossa. A gross total resection was achieved. Three years postoperatively, the patient developed a growing mass at the intracranial intradural regions in posterior fossa near the previous incision. Surgical resection of the lesion was performed and the mass was totally resected. Postoperative imaging demonstrated no residual evidence of tumor and the pathological review of the surgical tumor specimen demonstrated desmoid tumor in intracranial posterior fossa. As desmoid tumors seem to arise at the location of a previous surgical site, they should be considered in the differential diagnosis for superficial masses occurring in the surgical bed after posterior surgery. Additionally, identifying the relationship between the basic effects of tumor surgery and desmoid tumor formation is considerably needed.


Assuntos
Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/cirurgia , Fibromatose Agressiva/patologia , Hemangioblastoma/cirurgia , Segunda Neoplasia Primária/patologia , Adulto , Feminino , Humanos
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