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1.
Cancer Genet ; 270-271: 12-21, 2023 01.
Article in English | MEDLINE | ID: mdl-36410106

ABSTRACT

microRNAs (miRNAs) are involved in numerous functions and processes in the brain and other organs through the regulation of gene and protein expression. miRNA dysregulation is associated with the development of several diseases, including the brain and Central Nervous System cancer (CNS). The hsa-miR-516a-5p and hsa-miR-516b-5p are involved in proliferation, migration, and invasion in different tumor models, but their antitumor effect has not been evaluated in cancer of CNS. Therefore, we aimed to assess the effect of the miRNAs hsa-miR-516a-5p and miRNA hsa-miR-516b-5p on the Glioblastoma cell line (T98G). We used synthetic miRNA mimics to induce the overexpression of both miRNAs in the cell line, which was corroborated by RT-qPCR. Next, we evaluated the effect on proliferation, migration, and invasion using the CyQuant direct kit, ThinCert ™ inserts and invasion BioCoat ™ Matrigel® Invasion Chambers. We found upregulation of these miRNAs induced significant changes on the migration and invasion processes of T98G cells, but not affected the proliferation rate. These results suggest that both microRNAs could be playing an important role in the control of tumor progression towards metastasis. The bioinformatics analysis showed that target genes for these miRNAs are involved in different biological processes such as in cell adhesion molecule binding and cell junction disassembly, which are important for cancer progression. Further studies and experimental validation are needed to identify the genes regulated by microRNAs.


Subject(s)
Glioblastoma , MicroRNAs , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , Glioblastoma/genetics , Cell Line, Tumor , Up-Regulation , Gene Expression Regulation, Neoplastic , Cell Proliferation/genetics
2.
BMJ Case Rep ; 15(9)2022 Sep 16.
Article in English | MEDLINE | ID: mdl-36113959

ABSTRACT

Spinal solitary fibrous tumour (SFT) is an uncommon tumour with few cases reported in the literature. It rarely originates at the craniocervical junction. To our knowledge, only eight cases of spinal SFT located at the craniocervical junction have been reported in the literature. We presented a patient with a craniocervical junction SFT and discussed its clinical presentation, radiological features, pathology, management and outcome. This was the first patient reported in the literature with a recurrent craniocervical junction SFT treated with Gamma Knife radiosurgery. The treatment reduced the tumour volume by more than 85% within 12 months.


Subject(s)
Radiosurgery , Solitary Fibrous Tumors , Humans , Radiography , Solitary Fibrous Tumors/diagnostic imaging , Solitary Fibrous Tumors/radiotherapy , Solitary Fibrous Tumors/surgery
3.
BMJ Case Rep ; 15(8)2022 Aug 29.
Article in English | MEDLINE | ID: mdl-36038156

ABSTRACT

Hemangioblastomatosis represents an unusual and malignant leptomeningeal dissemination of hemangioblastoma (HB). It has been reported in patients with sporadic HB or von Hippel-Lindau (VHL) disease. Hemangioblastomatosis had been reported following resection of a primary HB lesion in all cases except one patient with a sporadic HB. We present a patient with VHL with several HBs at the brainstem, cerebellum, pituitary stalk and retina who developed spinal hemangioblastomatosis without previous craniospinal surgery. A whole spine MRI showed the spinal dissemination from the primary lesions. The patient received craniospinal radiotherapy due to the extensive spinal leptomeningeal dissemination and multiple HBs. MRI performed 12 months after the radiotherapy showed stability of the lesions.


Subject(s)
Hemangioblastoma , von Hippel-Lindau Disease , Hemangioblastoma/complications , Hemangioblastoma/diagnostic imaging , Hemangioblastoma/surgery , Humans , Magnetic Resonance Imaging , Meninges/pathology , Spinal Canal/pathology , von Hippel-Lindau Disease/complications , von Hippel-Lindau Disease/surgery
4.
BMJ Case Rep ; 14(11)2021 Nov 09.
Article in English | MEDLINE | ID: mdl-34753734

ABSTRACT

Sacral spinal cord ependymoma is an uncommon pathology. Most of the reported cases are consistent with a myxopapillary ependymoma histopathologic subtype. Non-myxopapillary ependymomas rarely occur in the sacral region. Most lesions are intradural; however, rare extradural cases can occur. We present the case of a 46-year-old female patient diagnosed with a grade II sacral extradural ependymoma, emphasising the importance of an interdepartmental case approach for diagnosis and management. Even though grade II ependymomas are considered low grade, the potential for recurrence and metastatic disease has been reported. There are no treatment guidelines for these rare tumours besides gross total resection.


Subject(s)
Ependymoma , Spinal Cord Neoplasms , Ependymoma/diagnostic imaging , Ependymoma/surgery , Female , Humans , Middle Aged , Neoplasm Recurrence, Local , Sacrococcygeal Region , Sacrum/diagnostic imaging , Spinal Cord Neoplasms/diagnostic imaging , Spinal Cord Neoplasms/surgery
5.
BMJ Case Rep ; 14(11)2021 Nov 11.
Article in English | MEDLINE | ID: mdl-34764126

ABSTRACT

Stereotactic radiosurgery (SRS) poses a minimal but important risk for tumour transformation, typically occurring 8-10 years after the treatment. Malignant peripheral nerve sheath tumour (MPNST) is the most common tumour arising from a vestibular schwannoma treated with SRS, with only 14 cases previously reported. We present the fifteenth case and describe its evolution and clinical course. A 56-year-old man without a history of neurofibromatosis was diagnosed 9 years prior with a vestibular schwannoma. SRS to the residual tumour was given 3 months later. During the current hospitalisation, he was reoperated where histology confirmed a MPNST. All 15 MPNST cases were analysed, showing a 77% female predominance presenting a malignant transformation at a mean age of 51. The diagnosis was made at a mean time of 74 months after SRS. The mean survival time after diagnosis was 16 months. MPNST arising from benign vestibular schwannoma after SRS treatment is an uncommon but devastating complication.


Subject(s)
Neurofibromatoses , Neurofibromatosis 1 , Neurofibrosarcoma , Neuroma, Acoustic , Radiosurgery , Female , Humans , Male , Middle Aged , Neuroma, Acoustic/surgery
6.
BMJ Case Rep ; 14(7)2021 Jul 30.
Article in English | MEDLINE | ID: mdl-34330724

ABSTRACT

Primary lymphoma of the visual pathway is rare, especially at the chiasm. Very few cases have been reported. The lesion is frequently confused with an optic-hypothalamic glioma. A 55-year-old man was found disoriented at his home by a friend and evaluated with a brain MRI which demonstrated an expansile mass located at the optic chiasm and hypothalamus level. The principal differential was a high-grade hypothalamic glioma due to the contrast enhancement. A biopsy of the chiasmal lesion was performed. Histological diagnosis of the lesion was compatible with a diffuse large B cell lymphoma. He was started on methotrexate and rituximab; however, his clinical course kept deteriorating, and he died 64 days after his presentation. All prior cases of primary lymphoma of the chiasm are reviewed.


Subject(s)
Glioma , Lymphoma, Large B-Cell, Diffuse , Biopsy , Humans , Lymphoma, Large B-Cell, Diffuse/diagnostic imaging , Lymphoma, Large B-Cell, Diffuse/drug therapy , Magnetic Resonance Imaging , Male , Middle Aged , Optic Chiasm/diagnostic imaging
7.
BMJ Case Rep ; 14(3)2021 Mar 04.
Article in English | MEDLINE | ID: mdl-33664037

ABSTRACT

Alveolar rhabdomyosarcoma (ARMS) has a predilection for the peripheral extremities, and brain metastases are rare, with only a few cases reported after the initial diagnosis. We present a 22-year-old male patient with a right orbital-ethmoidal ARMS who presented with a recurrence to the brain 1 year after the initial diagnosis. He was referred to our institution due to acute neurological deterioration. A brain MRI was performed, showing an enhancing bilateral parafalcine lesion centred about the bilateral cingulate gyri with extension into the corpus callosum. The patient was taken to the operating room for a stereotactic biopsy under general anaesthesia, which was compatible with metastatic ARMS. Our case is exceedingly rare, considering the initial diagnosis of an orbital/ethmoidal ARMS, its subsequent metastasis to the brain and its clinical sequelae after a biopsy. Prognosis after cerebral metastatic ARMS is dismal, with most patients expiring due to central nervous system metastatic disease.


Subject(s)
Brain Neoplasms , Rhabdomyosarcoma, Alveolar , Rhabdomyosarcoma , Adult , Brain/diagnostic imaging , Brain Neoplasms/diagnostic imaging , Humans , Male , Neoplasm Recurrence, Local , Rhabdomyosarcoma, Alveolar/diagnostic imaging , Young Adult
8.
BMJ Case Rep ; 12(1)2019 Jan 31.
Article in English | MEDLINE | ID: mdl-30709829

ABSTRACT

Adipsic diabetes insipidus is an infrequent disease which may be associated with craniopharyngioma. It may be secondary to the tumour's extension, as well as to resection of the mass. We present the case of a 24-year-old woman with a history of delayed puberty and hypothyroidism, but no prior study reports. She consulted due to a headache with warning signs associated with altered visual acuity. Brain MRI was performed which showed signs of a non-adenomatous lesion with suprasellar and hypothalamic extension. Following transcranial surgery, she developed diabetes insipidus criteria, with absence of thirst documented during the hospitalisation. The histopathological findings confirmed the diagnosis of craniopharyngioma. The patient was treated with desmopressin and received recommendations regarding rehydration according to the quantification of losses, with electrolyte stabilisation.


Subject(s)
Craniopharyngioma/surgery , Diabetes Insipidus/etiology , Pituitary Neoplasms/surgery , Antidiuretic Agents/administration & dosage , Craniopharyngioma/complications , Craniopharyngioma/diagnostic imaging , Craniopharyngioma/pathology , Deamino Arginine Vasopressin/administration & dosage , Diabetes Insipidus/diagnosis , Diabetes Insipidus/drug therapy , Female , Humans , Magnetic Resonance Imaging , Pituitary Neoplasms/complications , Pituitary Neoplasms/diagnostic imaging , Pituitary Neoplasms/pathology , Prednisolone/administration & dosage , Sodium/blood , Thirst , Thyroxine/administration & dosage , Treatment Outcome , Young Adult
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