-
Neuropathology : Official Journal of... Dec 2020Here, we report a juvenile (18-year-old male) case of epilepsy-associated, isocitrate dehydrogenase wild-type/histone 3 wild-type diffuse glioma with a rare BRAF...
Here, we report a juvenile (18-year-old male) case of epilepsy-associated, isocitrate dehydrogenase wild-type/histone 3 wild-type diffuse glioma with a rare BRAF mutation and a focal atypical feature resembling diffuse astrocytoma. The patient presented with refractory temporal lobe epilepsy. Subsequently, magnetic resonance imaging revealed a hyperintense lesion in the right temporal lobe on fluid attenuated inversion recovery images. The patient underwent right lateral temporal lobectomy and amygdalohippocampectomy. Histopathologically, the tumor showed isomorphic, diffuse, infiltrative proliferation of glial tumor cells and intense CD34 immunoreactivity. The tumor cells were immunonegative for isocitrate dehydrogenase 1 (IDH1) R132H and BRAF V600E. Notably, the tumor cells showed the lack of nuclear staining for α-thalassemia/mental retardation syndrome, X-linked (ATRX). In addition, the Ki-67 labeling index, using a monoclonal antibody MIB-1, was elevated focally at tumor cells with p53 immunoreactivity. Molecular analyses identified a BRAF mutation, the first case reported in a glioma. BRAF is predicted to result in loss of kinase action; however, inactive mutants can stimulate mitogen-activated protein kinase kinase (MEK)-extracellular signal-regulated kinase (ERK) signaling through CRAF activation. Thus, according to the recent update of the consortium to inform molecular and practical approaches to central nervous system tumor taxonomy (cIMPACT-NOW update 4), our case is also compatible with diffuse glioma with the mitogen-activated protein kinase (MAPK) pathway alteration. Thorough immunohistochemical and molecular studies are necessary for diagnosis of epilepsy-associated, diffuse gliomas. Partial resemblance in histopathological and molecular genetic features to diffuse astrocytoma also calls for attention.
Topics: Adolescent; Brain Neoplasms; Epilepsy, Temporal Lobe; Glioma; Histones; Humans; Isocitrate Dehydrogenase; Male; Mutation; Proto-Oncogene Proteins B-raf
PubMed: 32996219
DOI: 10.1111/neup.12693 -
Cureus Aug 2020We present a very rare case of chronic encapsulated intracerebral hematoma involving the septum pellucidum and the foramen of Monro that by location radiological...
We present a very rare case of chronic encapsulated intracerebral hematoma involving the septum pellucidum and the foramen of Monro that by location radiological appearance, and clinical history was mimicking a recurrent astrocytoma or a shunt-related foreign body granuloma. A young adult underwent the resection of a juvenile pilocytic astrocytoma as a child, and with a mass encasing the tip of an old non-functioning ventricular catheter, the differential diagnosis of shunt-related foreign body granuloma versus recurrent low-grade glioma was raised. Although chronic encapsulated intracerebral hematomas have been reported in the literature, the anatomical location of the lesion in the presented case was unique, with radiological and history findings also posing a peculiar diagnostic challenge. Chronic encapsulated intracerebral hematomas are benign entities that may also be found to involve deep and midline supra-tentorial structures usually not prone to spontaneous intraparenchymal hemorrhages. When symptomatic, surgical resection of the hematoma can be both diagnostic and curative.
PubMed: 32953346
DOI: 10.7759/cureus.9839 -
Orphanet Journal of Rare Diseases Jun 2020Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient...
OBJECTIVE
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.
METHODS
A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the clinical data of the patient. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples.
RESULTS
The patient presented with a 2 month history of gradual growth multiple cutaneous nodules. He had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). After 3 months of sirolimus treatment, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C > T, p.R786*) mutation in both paraffin block tissue and blood samples. We overturned the original pathological diagnosis and finally identified JXG as a new type of skin lesions in TSC.
CONCLUSION
This is the first report on the occurrence of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in patients with TSC and contribute to the elucidation of JXG pathogenesis and treatment.
Topics: Genetic Testing; Humans; Hypopigmentation; Infant; Male; Sirolimus; Tuberous Sclerosis; Xanthogranuloma, Juvenile
PubMed: 32532290
DOI: 10.1186/s13023-020-01396-7 -
Journal of Neurosurgery. Pediatrics May 2020Micro RNAs (miRNAs) in peripheral biofluids (e.g., blood, saliva, urine) have been investigated as potential sources of diagnostic and prognostic information for a...
OBJECTIVE
Micro RNAs (miRNAs) in peripheral biofluids (e.g., blood, saliva, urine) have been investigated as potential sources of diagnostic and prognostic information for a variety of tumor types, including pediatric brain tumors. While significant predictive associations have been identified between unique serum miRNA concentrations and some pediatric brain tumors, it is unclear whether serum miRNA abnormalities in pediatric brain tumor patients are representative of miRNA alterations in the tumor tissue compartment or whether they represent host tissue reactions to the presence of a brain tumor. The authors sought to identify whether serum miRNA changes in pediatric brain tumor patient sera could be explained by miRNA alterations within their tumors.
METHODS
Matched serum and tissue samples were taken from a cohort of pediatric brain tumor patients (juvenile pilocytic astrocytoma [JPA] = 3, medulloblastoma = 4, ependymoma = 3), and unmatched control samples (n = 5) were acquired from control pediatric patients without oncological diagnoses. Extracted RNAs were tested within an array of 84 miRNAs previously noted to be relevant in a variety of brain tumors.
RESULTS
miR-26a-5p correlated strongly in JPA patients within both the serum and tumor tissue samples (R2 = 0.951, p = 0.046), and serum levels were highly predictive of JPA (area under the curve = 0.751, p = 0.027). No other miRNAs that were significantly correlated between biological compartments were significantly associated with brain tumor type. In total, 15 of 84 tested miRNAs in JPA patients, 14 of 84 tested miRNAs in ependymoma patients, and 4 of 84 tested miRNAs in medulloblastoma patients were significantly, positively correlated between serum and tumor tissue compartments (R2 > 0.950, p < 0.05).
CONCLUSIONS
The majority of miRNA changes in pediatric brain tumor patient sera that are significantly associated with the presence of a brain tumor do not correlate with brain tumor miRNA expression levels. This suggests that peripheral miRNA changes within pediatric brain tumor patients likely derive from tissues other than the tumors themselves.
PubMed: 32384264
DOI: 10.3171/2020.2.PEDS19715 -
JBJS Case Connector 2020A 16-year-old male patient with severe kyphoscoliosis, paraplegia, and neurogenic bowel/bladder caused by a juvenile pilocytic astrocytoma was treated surgically using a...
CASE
A 16-year-old male patient with severe kyphoscoliosis, paraplegia, and neurogenic bowel/bladder caused by a juvenile pilocytic astrocytoma was treated surgically using a hybrid fusion construct with polyethylene bands after neoplasm resection. Owing to the necessity of serial postoperative magnetic resonance imaging studies to evaluate the recurrence of pathology and known effect of metal artifact from spinal instrumentation, preservation of radiographic resolution was critical.
CONCLUSION
We describe the novel utility of polyethylene bands placed around the ribs as a safe and effective form of hybrid construct for reducing radiographic metal artifact in spinal deformity cases requiring serial imaging.
Topics: Adolescent; Astrocytoma; Humans; Magnetic Resonance Imaging; Male; Scoliosis; Spinal Cord Neoplasms; Spinal Fusion
PubMed: 32224656
DOI: 10.2106/JBJS.CC.19.00351 -
Pediatric Physical Therapy : the... Jan 2020This case report assesses gaze stability, postural control, and balance pre- and post-physical therapy intervention, including vestibular rehabilitation, in a 4-year-old...
PURPOSE
This case report assesses gaze stability, postural control, and balance pre- and post-physical therapy intervention, including vestibular rehabilitation, in a 4-year-old child with posterior fossa syndrome following gross total resection of a juvenile astrocytoma brain tumor.
SUMMARY OF KEY POINTS
The child in this case study had improved balance and gaze stability, as determined by the Pediatric Balance Scale and the Dynamic Visual Acuity test upon completion of the 10-week intervention. STATEMENT OF CONCLUSION AND RECOMMENDATIONS FOR CLINICAL PRACTICE:: This case provides preliminary support of the need for vestibular screening in children with a diagnosis of posterior fossa syndrome. The success of the intervention suggests that vestibular rehabilitation exercises can be modified for use in preschool-aged children, and the specific intervention outlined in this case report can be easily replicated in a variety of treatment settings.
Topics: Astrocytoma; Child, Preschool; Female; Humans; Infratentorial Neoplasms; Physical Therapy Modalities; Postural Balance; Vestibular Diseases
PubMed: 31815925
DOI: 10.1097/PEP.0000000000000670 -
World Neurosurgery Dec 2019Radiation-induced telangiectasia of the central nervous system has been described predominantly in children, with up to 20% of patients affected after 3-41 years of...
Radiation-induced telangiectasia of the central nervous system has been described predominantly in children, with up to 20% of patients affected after 3-41 years of radiotherapy. We present the case of a 45-year-old male with a pontine pilocytic astrocytoma treated with standard-dose radiation for 6 weeks in 1993. He developed a 3-cm multicystic, hemorrhagic brainstem lesion but was asymptomatic. The lesion caused severe brainstem mass effect, compatible with cavernous malformation or capillary telangiectasia. It has been reported that cavernomas and capillary telangiectasias share a similar pathologic process. The patient was surgically treated with a supracerebellar infratentorial approach to diagnose the hemorrhagic component of the lesion and ensure there was no transformation of the pilocytic astrocytoma (Video 1). He was placed in a gravity-dependent supine position with the head flexed and turned to allow for natural relaxation of the cerebellum via gravity-a technique we previously described. Surgical treatment proceeded with a left suboccipital craniotomy to decompress the cyst and facilitate removal of the intraaxial lesion. We took care to avoid injuring the fourth and fifth cranial nerves and branches of the superior cerebellar artery. No further lesional tissue was seen in the resection cavity. Interestingly, the final pathologic diagnosis indicated a mix of both pilocytic astrocytoma and radiation-induced capillary telangiectasia. From the surgeon's perspective, capillary telangiectasias appear similar to cavernous malformations on gross inspection, so pathologic confirmation is essential. Postoperative imaging demonstrated total resection of the lesion. The patient was discharged on postoperative day 3 with no neurologic deficit.
Topics: Astrocytoma; Brain Stem Neoplasms; Central Nervous System Vascular Malformations; Humans; Male; Middle Aged; Pons; Radiation Injuries; Radiotherapy
PubMed: 31479784
DOI: 10.1016/j.wneu.2019.08.172 -
Journal of Clinical Neuroscience :... Dec 2019The present study aims to determine the tumor-related, clinical, and demographic factors associated with extent of resection (EOR) and post-operative outcomes in JPA...
PURPOSE
The present study aims to determine the tumor-related, clinical, and demographic factors associated with extent of resection (EOR) and post-operative outcomes in JPA patients.
METHODS
All patients with JPA, identified from a single-center brain tumour data base, were included in this retrospective analysis. Pre-operative MRI scans were reviewed by a single neurosurgeon blinded to the EOR. JPA cases that exhibited no residual tumor post-operatively were assigned to the GTR group, all other tumors were assigned to the
RESULTS
Of the 28 patients included, 15 had a GTR (46% male; median age: 7.5 years; range: 1.16-14.9) and 13 had
CONCLUSIONS
This study shows other than location of the lesion in the cerebellum, demographic, clinical and tumor-related variables are not associated with EOR in children with JPA. GTR was associated with an extended follow-up interval but not with increased perioperative morbidities compared to those with
Topics: Adolescent; Astrocytoma; Brain Neoplasms; Child; Child, Preschool; Cohort Studies; Female; Humans; Infant; Male; Neoplasm, Residual; Neurosurgical Procedures; Retrospective Studies; Treatment Outcome
PubMed: 31466905
DOI: 10.1016/j.jocn.2019.08.066 -
Operative Neurosurgery (Hagerstown, Md.) Jan 2020Resection of intrinsic brainstem tumors is fraught with a high risk of morbidity. In select cases, however, complete tumor resection is possible and can result in...
Resection of intrinsic brainstem tumors is fraught with a high risk of morbidity. In select cases, however, complete tumor resection is possible and can result in long-term benefit to the patient. Informed consent for the operation was obtained. In this video, we illustrate the use of a keyhole retrosigmoid craniotomy for microsurgical resection of an exophytic juvenile pilocytic astrocytoma and highlight the nuances of opening the various fissures between the brainstem and the cerebellum to obtain a more direct view of the brainstem, mapping of the brainstem surface to avoid cranial nerve nuclei, use of safe entry zones to minimize injury to critical structures, and microsurgical technique used to operate within the substance of the brainstem. In general, navigation is used to optimize placement of craniotomy and size of bony opening, to delineate the superior to inferior extent of the tumor, and to confirm that the boundary between the tumor and the normal brainstem is reached at the depth. In general, the authors attempt surgical resection of brainstem tumors that are exophytic, have clear boundaries (signal on T1 postcontrast and T2 sequences denote similar tumor boundaries), do not encapsulate the basilar artery, and do not exhibit infiltration of the deep pontine fibers (as is the case with diffuse intrinsic pontine gliomas). In properly selected patients, surgery for brainstem tumor can result in good resection with preservation of neurological function. This patient developed subtle weakness of the face after surgery, which did not improve at 3 mo, but had preserved hearing function and no further neurological deficits.
PubMed: 31329970
DOI: 10.1093/ons/opz069 -
Child's Nervous System : ChNS :... Jul 2019Juvenile pilocytic astrocytoma (JPA) is a World Health Organization (WHO) grade I tumor that is the commonest to occur in the 0-19 age group, with an excellent prognosis... (Review)
Review
Juvenile pilocytic astrocytoma (JPA) is a World Health Organization (WHO) grade I tumor that is the commonest to occur in the 0-19 age group, with an excellent prognosis of 96% 10-year survival in pediatric patients. Complete resection is the treatment of choice for JPAs. However, this is not always feasible due to the location of certain tumors, and the management following subtotal resection is controversial. Fractionated radiotherapy, chemotherapy, radiosurgery, and observation have all been used to treat tumor remnants. We report a young patient with good tumor control 23 years following low-dose Gamma Knife surgery (GKS) of a subtotally resected brainstem JPA and recommend that GKS may be a feasible treatment option to achieve long-term tumor control when subtotal resection cannot be achieved, even if the GKS prescription dose must be significantly reduced due to large tumor volume or proximity to critical structures sensitive to radiation.
Topics: Astrocytoma; Brain Stem; Brain Stem Neoplasms; Follow-Up Studies; Humans; Infant; Male; Radiosurgery; Treatment Outcome; Young Adult
PubMed: 30997566
DOI: 10.1007/s00381-019-04147-7