RESUMO
Medulloblastoma accounts for only 1% of all adult CNS tumors. Recently, we have encountered a case of medulloblastoma in a 26 year old man with divergent differentiation including myoblastic, glial, osteoblastic and chondroblastic differentiation. Here we present the results of immunohistochemical staining using several specific antibodies with a discussion and a review of literature.
Assuntos
Neoplasias Cerebelares/diagnóstico , Meduloblastoma/diagnóstico , Adulto , Cerebelo/metabolismo , Cerebelo/patologia , Proteína Glial Fibrilar Ácida/metabolismo , Humanos , Imageamento por Ressonância Magnética , Masculino , Mucina-1/metabolismo , Proteínas de Neurofilamentos/metabolismo , Sinaptofisina/metabolismo , Ubiquitina-Proteína Ligases/metabolismoRESUMO
Prediction of tumor behavior in meningiomas based on morphological features alone remains difficult. Several immunohistochemical biomarkers have been proposed to assist conventional methods. However, no single immunohistochemical marker can unequivocally discriminate between benign and aggressive meningiomas. There is only 1 study available in the literature that correlates p63 expression with overall histological grade of the meningioma. The present study is undertaken to assess the correlation between p63 expression and histological grade of meningiomas. For this purpose, the authors studied and analyzed the immunohistochemical expression of p63 in 85 cases of meningioma, including WHO grade I (63), grade II (11), and grade III (11) cases. Correlation between histological grade and nuclear immunoreactivity to p63 antibody was performed. Furthermore, expression of p63 protein was correlated with short clinical follow-up and Ki-67 proliferation index. Among 85 patients analyzed, there were 61 women (71.7 %) and 24 men (28.2%) between 7 and 75 years old. Expression of p63 protein was found in 34.9% of grade I cases, but in grade II and III, 63.6% of cases each were immunoreactive. Correlation between histological grade and p63 immunoreactivity was significant (P = .02). p63-positive grade I meningiomas did not show elevated Ki-67 index. The present study contradicts earlier reports because there are a considerable number of grade I meningiomas that express p63. Although p63 expression is significantly associated with higher histological grade of meningiomas, it may not be considered as a sole biomarker to assess aggressive behavior of the tumor.
Assuntos
Proteínas Reguladoras de Apoptose/metabolismo , Neoplasias Meníngeas/metabolismo , Neoplasias Meníngeas/patologia , Meningioma/metabolismo , Meningioma/patologia , Fatores de Transcrição/metabolismo , Proteínas Supressoras de Tumor/metabolismo , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Núcleo Celular/metabolismo , Núcleo Celular/patologia , Criança , Feminino , Humanos , Masculino , Neoplasias Meníngeas/classificação , Meningioma/classificação , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Adulto JovemAssuntos
Hemorragia Cerebral/etiologia , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/cirurgia , Neoplasias Infratentoriais/patologia , Neoplasias Infratentoriais/cirurgia , Complicações Intraoperatórias/etiologia , Neurocitoma/patologia , Neurocitoma/cirurgia , Procedimentos Neurocirúrgicos/efeitos adversos , Neoplasias do Ventrículo Cerebral/complicações , Criança , Humanos , Hidrocefalia/patologia , Imuno-Histoquímica , Neoplasias Infratentoriais/complicações , Imageamento por Ressonância Magnética , Masculino , Neurocitoma/complicações , Tomografia Computadorizada por Raios XAssuntos
Neoplasias Hipofisárias/patologia , Prolactinoma/patologia , Tumores Fibrosos Solitários/patologia , Antígenos CD34/metabolismo , Blefaroptose/etiologia , Seio Cavernoso/patologia , Cefaleia/etiologia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Hipófise/patologia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Ponte/patologia , Prolactina/sangue , Prolactinoma/complicações , Prolactinoma/diagnóstico , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Tumores Fibrosos Solitários/complicações , Tumores Fibrosos Solitários/diagnóstico , Tomografia Computadorizada por Raios X , Transtornos da Visão/etiologiaRESUMO
BACKGROUND AND AIM: Gliosarcoma (GS) is an uncommon malignant tumor of the brain, consisting of malignant glial, usually a glioblastoma (GB), as well as sarcomatous component; the latter is usually in the form of fibrosarcoma. We report a series of 10 GSs with prominent smooth muscle component, which is a rare occurrence. SETTINGS AND DESIGN: Out of a series of 225 cases of GB admitted in our hospital, 10 were diagnosed as GS with prominent smooth muscle component, gliomyosarcoma (GMS). MATERIALS AND METHODS: This is an observational study based on the experience with 225 cases of GB, encountered between 1995 and 2008, in our hospital. The tumors showing prominent spindle cell component were stained with reticulin and 20 with strongly positive reticulin stain were diagnosed as GS. They were further studied by immunohistochemical staining for glial fibrillary acidic protein (GFAP), smooth muscle actin (SMA), desmin and factor VIII antigen. RESULTS: Out of 225 cases of GB, 20 were diagnosed as GS. Ten of these showed prominent smooth muscle component and were diagnosed as GMS. They revealed varying degrees of SMA and factor VIII Ag positivity. In the sarcomatous component, SMA and factor VIII positive cells were seen close to the vessel walls as well as away from them. CONCLUSION: GMS containing prominent smooth muscle component may not be as rare as has been reported in the literature. Both GS and GMS appear to arise from the vessel wall at least in some cases, suggesting their possible vascular origin.
Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patologia , Gliossarcoma/diagnóstico , Gliossarcoma/patologia , Músculo Liso/patologia , Actinas/análise , Adolescente , Adulto , Idoso , Fator VIII/análise , Feminino , Humanos , Imuno-Histoquímica , Masculino , Microscopia , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/análise , Reticulina/análise , Adulto JovemRESUMO
Congenital myopathies are a group of genetic disorders characterized by generalised muscle hypotonia and weakness of varying severity. They are distinct entities and do not include muscular dystrophies, metabolic myopathies and mitochondrial disorders. Myotubular myopathy is a rare sub type within this group of disorders. Clinical differentiation of the various types is difficult and requires muscle biopsy with histopathological and immunohistochemical studies for specific diagnosis. Gene studies are a prerequisite for genetic counseling adn prenatal diagnosis. Here presented three cases of X-linked myotubular myopathy in three Indian families where the diagnosis was established by mutation analysis in the MTM1 gene in all, and supported his histopathology in two. All three families had history of previous male neonatal deaths with similar complaints. Molecular analysis revealed hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X) in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3. Genetic counseling was performed regarding the X-linked inheritance, their 50% risk of recurrence in boys in subsequent pregnancies, and a feasibility of prenatal diagnosis. This is the first report of cases of X-linked myotubular myopathy from India.