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Journal of Medical Radiation Sciences Apr 2024Proton beam therapy (PBT) is increasingly used to treat cancers, especially in the paediatric and adolescent and young adult (AYA) population. As PBT becomes more...
Proton beam therapy (PBT) is increasingly used to treat cancers, especially in the paediatric and adolescent and young adult (AYA) population. As PBT becomes more accessible, determining when PBT should be used instead of photon irradiation can be difficult. There is a need to balance patient, tumour and treatment factors when making this decision. Comparing the dosimetry between these two modalities plays an important role in this process. PBT can reduce low to intermediate doses to organs at risk (OAR), but photon irradiation has its dosimetric advantages. We present two cases with brain tumours, one paediatric and one AYA, in which treatment plan comparison between photons and protons showed dosimetric advantages of photon irradiation. The first case was an 18-month-old child diagnosed with posterior fossa ependymoma requiring adjuvant radiotherapy. Photon irradiation using volumetric modulated arc therapy (VMAT) had lower doses to the hippocampi but higher doses to the pituitary gland. The second case was a 21-year-old with an optic pathway glioma. There was better sparing of the critical optic structures and pituitary gland using fractionated stereotactic radiation therapy over PBT. The dosimetric advantages of photon irradiation over PBT have been demonstrated in these cases. This highlights the role of proton-to-photon comparative treatment planning to better understand which patients might benefit from photon irradiation versus PBT.
Topics: Adolescent; Humans; Child; Infant; Young Adult; Adult; Proton Therapy; Radiotherapy Dosage; Radiotherapy Planning, Computer-Assisted; Radiotherapy, Intensity-Modulated; Radiosurgery
PubMed: 38504608
DOI: 10.1002/jmrs.773 -
Ophthalmology and Therapy May 2024This is a unique case report in medical literature for its detailing of diagnostics of an uncommon presentation of a rapid unexplained bilateral vision loss of a...
INTRODUCTION
This is a unique case report in medical literature for its detailing of diagnostics of an uncommon presentation of a rapid unexplained bilateral vision loss of a 73-year-old male diabetic patient. This report highlights the crucial role of advanced molecular diagnostics in difficult neurological cases and also elucidates the difficulties involved in diagnosing optic nerve glioblastoma, an exceptionally rare and aggressive tumour.
MAIN CONCERNS AND CLINICAL FINDINGS OF THE PATIENT
Slow and progressive loss of vision over 2 months, ultimately developing almost complete visual impairment in both eyes and a defect of right eye field of vision conclusively highlighted that the likely etiology was neuro-ophthalmic. Initially, the conditions were suspected to be an extended spectrum of diabetic eye disease complications but further deterioration was a hint towards something more substantive.
PRIMARY DIAGNOSES, INTERVENTIONS AND OUTCOMES
This entailed in-depth diagnosis processes that included an MRI and the analysis of cerebrospinal fluid. The important discovery was through stereotactic biopsies of the optic nerve revealing a high-grade glial neoplasm. Next generation sequencing confirmed the pathology as IDH-wildtype glioblastoma. Despite management, his vision continued to deteriorate. Hence, an aggressive clinical course was followed.
CONCLUSION
This case highlights the important learning need in considering glioblastoma of the optic chiasm as part of the differential diagnosis of rapid vision loss, which may present as multifocal brain lesions, especially in cases of rapid loss of vision where initial workup is negative. Quite a useful lesson that can be drawn from this case relates to the diagnostic process with advanced molecular profiling, more attention given to clinical suspicion and cutting-edge diagnostic tools applied in atypical presentation of neurological conditions.
PubMed: 38498279
DOI: 10.1007/s40123-024-00922-1 -
BJR Case Reports Mar 2024Optic nerve haemangioblastoma (ONH) is an uncommon, benign, non-meningothelial, mesenchymal tumour of unclear origin. Most are associated with von Hippel-Lindau (VHL)...
Optic nerve haemangioblastoma (ONH) is an uncommon, benign, non-meningothelial, mesenchymal tumour of unclear origin. Most are associated with von Hippel-Lindau (VHL) syndrome (71%), and only 40 cases have been reported in the medical literature. Most of the patients develop non-specific visual symptoms, including decreased visual acuity and/or loss of visual fields, exophthalmos, trigeminal neuralgia, and retroorbital pain. Optic nerve sheath meningioma and optic nerve glioma are among the differential diagnoses that may be considered in this location. Contrast-enhanced MRI is considered an optimal diagnostic tool, which helps to determine some characteristics that guide towards an adequate diagnosis and treatment. We present a 42-year-old patient with a history of VHL syndrome in whom a cerebellar lesion and optic nerve lesions were evidenced, and we did a review of the literature and case analysis.
PubMed: 38486681
DOI: 10.1093/bjrcr/uaae007 -
Pediatric Radiology May 2024Pediatric neoplastic extraocular soft-tissue lesions in the orbit are uncommon. Early multimodality imaging work-up and recognition of the key imaging features of these...
Pediatric neoplastic extraocular soft-tissue lesions in the orbit are uncommon. Early multimodality imaging work-up and recognition of the key imaging features of these lesions allow narrowing of the differential diagnoses in order to direct timely management. In this paper, the authors present a multimodality approach to the imaging work-up of these lesions and highlight the use of ocular ultrasound as a first imaging modality where appropriate. We will discuss vascular neoplasms (congenital hemangioma, infantile hemangioma), optic nerve lesions (meningioma, optic nerve glioma), and other neoplastic lesions (plexiform neurofibroma, teratoma, chloroma, rhabdomyosarcoma, infantile fibrosarcoma, schwannoma).
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Diagnosis, Differential; Orbital Neoplasms; Soft Tissue Neoplasms; Ultrasonography
PubMed: 38480589
DOI: 10.1007/s00247-024-05891-y -
Neuro-oncology Mar 2024Optic pathway gliomas (OPG) represent 5% of childhood brain tumors. Successive relapses lead to multiple treatments exposing to late complications.
BACKGROUND
Optic pathway gliomas (OPG) represent 5% of childhood brain tumors. Successive relapses lead to multiple treatments exposing to late complications.
METHODS
We included patients treated at Gustave Roussy (GR) between 01.1980 and 12.2015 for OPG, before 18 years-old and alive at 5 years from diagnosis. Mortality and physical health conditions data were extracted from medical data files and updated thanks to the GR long-term follow-up program and French national mortality registry for patients included in the French Childhood Cancer Survivor Study.
RESULTS
We included 182 5y-OPG-childhood survivors in the analysis (sex-ratio M/F 0.8, 35% with NF1). With a median follow-up of 17.2y (range=5-41), we registered 82 relapses, 9 second malignancies and 15 deaths as first events after 5 years, resulting in 20-y conditional overall survival (C-OS) and late events-free survival (LEFS) of 79.9% (95%CI=71-86) and 43.5% (95%CI=36-51) respectively. NF1 (Hazard ratio HR=3, 95%CI=1.4-6.8), hypothalamic involvement (HR=3.2, 95%CI=1.4-7.3), and radiotherapy (HR=2.8, 95%CI=1.1-6.7) were significantly associated with C-OS in multivariable analyses. Ninety-five percent of 5y-OPG survivors suffered from any health condition, especially visual acuity "<1/10" (n=109), pituitary deficiency (n=106) and neurocognitive impairment (n=89). NF1 (HR 2.1) was associated with precocious puberty. With a median time post diagnosis of 4.2 years, 33 cerebrovascular events were observed in 21 patients.
CONCLUSION
Late relapses, second malignancies and cerebrovascular diseases are severe late events resulting in premature mortality. Morbidity is high and needing after-cancer care to improve quality of life. Risk factors could be considered to better stratify long-term follow-up.
PubMed: 38465768
DOI: 10.1093/neuonc/noae045 -
Frontiers in Oncology 2024Patients with optic pathway gliomas (OPG) have good survival rates although their long-term quality of life can be affected by the tumor or treatment-related morbidity....
INTRODUCTION
Patients with optic pathway gliomas (OPG) have good survival rates although their long-term quality of life can be affected by the tumor or treatment-related morbidity. This retrospective study sought to describe the clinical presentation and outcomes of children with OPG at a tertiary center in Mexico.
METHODS
Consecutive patients <18 years-of-age with newly diagnosed OPG between January 2002 and December 2020 at the Hospital Civil de Guadalajara Dr. Juan I. Menchaca in Guadalajara, Mexico were included.
RESULTS
Thirty patients were identified with a median age of six years. The most frequent clinical manifestations were loss of visual acuity (40%) and headaches (23%). Neurofibromatosis-1 was found in 23.3% of the patients. Surgery, either biopsy or resection, was done in 20 of 30 patients. Two patients died shortly after initial surgery. The 5-year event-free survival (EFS) was 79.3% ± 10.8% and the 5-year overall survival was 89.5% ± 6.9%. Lower EFS was associated with age less than 3 years, intracranial hypertension at presentation, and diencephalic syndrome. Patients who received surgery as first-line treatment had a 3.1 times greater risk of achieving a performance score of less than 90 points at 6 months after diagnosis (p=0.006). Of 10 patients with vision testing, 5 had improvement in visual acuity, 4 had no changes, and one patient showed worsening.
CONCLUSION
Our data suggests that favorable outcomes can be achieved with OPG in low- and middle-income countries, although a high rate of surgical complications was described leading to a lower overall survival. These data can be used prospectively to optimize treatment at this institute and other middle-income countries through a comprehensive, multidisciplinary approach.
PubMed: 38414749
DOI: 10.3389/fonc.2024.1329729 -
Ceska a Slovenska Oftalmologie :... 2024To clarify the possibilities and role of posterior segment imaging in patients with neurofibromatosis type I (NF1), and to show the prevalence of this disease in the...
AIM
To clarify the possibilities and role of posterior segment imaging in patients with neurofibromatosis type I (NF1), and to show the prevalence of this disease in the pediatric population in Slovakia.
MATERIAL AND METHODS
Until recently, ophthalmologic consultations in patients with NF1 were limited mainly to the observation of Lisch nodules of the iris and the presence of optic nerve glioma. However, advances in imaging capabilities have made it possible to investigate and describe new f indings concerning the ocular manifestations of this disease. Between October 2020 and November 2021, we examined the anterior and posterior segment of 76 eyes (38 children – 12 boys and 26 girls) with genetically confirmed NF1 gene mutation at our clinic. The age of the patients ranged from 4 to 18 years. The anterior segment was checked for the presence of Lisch nodules biomicroscopically with a slit lamp. On the posterior segment, the presence of choroidal nodules was checked by various imaging methods – fundus camera, infrared confocal selective laser ophthalmoscopy, MultiColor imaging, OCT, and OCT angiography. All the patients had magnetic resonance imaging performed in order to detect potential optic nerve gliomas for the purpose of diagnosis. We observed the correlation between the patients’ age, presence of Lisch nodules and the presence of choroidal nodules. Eight patients also had other manifestations of the disease – optic nerve gliomas or microvascular changes (so-called “corkscrew” vessels).
RESULTS
Out of 38 patients, Lisch iris nodules were present in 20 patients (53%) and choroidal nodules in 24 patients (63%). There was no positive correlation between the presence of these two manifestations within the same patient or eye, but there is a clear correlation between the presence of choroidal nodules and patient age.
CONCLUSION
The results suggest that a previously unknown ocular manifestation of neurofibromatosis type I, namely choroidal nodules, has a higher prevalence than Lisch nodules also in the pediatric population and can be easily visualized using various imaging modalities. It will be important to include follow-up observation of this finding among the standard controls for ocular findings in NF1, and it will be very interesting to correlate this f inding with the exact NF1 mutation
Topics: Male; Female; Humans; Child; Child, Preschool; Adolescent; Neurofibromatosis 1; Optic Nerve Glioma; Choroid; Ophthalmoscopy; Multimodal Imaging
PubMed: 38413225
DOI: 10.31348/2024/9 -
Expert Review of Neurotherapeutics Apr 2024Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor... (Review)
Review
INTRODUCTION
Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor development. With revised NF1 clinical criteria and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner.
AREAS COVERED
The authors review the spectrum of medical problems associated with NF1, focusing specifically on children and young adults. The age-dependent appearance of NF1-associated features is highlighted, and the currently accepted medical treatments are discussed. Additionally, future directions for optimizing the care of this unique population of children are outlined.
EXPERT OPINION
The appearance of NF1-related medical problems is age dependent, requiring surveillance for those features most likely to occur at any given age during childhood. As such, we advocate a life stage-focused screening approach beginning in infancy and continuing through the transition to adult care. With early detection, it becomes possible to promptly institute therapies and reduce patient morbidity. Importantly, with continued advancement in our understanding of disease pathogenesis, future improvements in the care of children with NF1 might incorporate improved risk assessments and more personalized molecularly targeted treatments.
Topics: Child; Young Adult; Humans; Adolescent; Neurofibromatosis 1; Genetic Testing
PubMed: 38406862
DOI: 10.1080/14737175.2024.2324117 -
Current Issues in Molecular Biology Feb 2024Vascular dementia (VaD) is the second most common type of dementia after Alzheimer's disease. In our previous studies, we showed that wheat bran extract (WBE) reduced...
Inhibition of Glial Activation and Subsequent Reduction in White Matter Damage through Supplementation with a Combined Extract of Wheat Bran, Citrus Peel, and Jujube in a Rat Model of Vascular Dementia.
Vascular dementia (VaD) is the second most common type of dementia after Alzheimer's disease. In our previous studies, we showed that wheat bran extract (WBE) reduced white matter damage in a rat VaD model and improved memory in a human clinical trial. However, starch gelatinization made the large-scale preparation of WBE difficult. To simplify the manufacturing process and increase efficacy, we attempted to find a decoction containing an optimum ratio of wheat bran, sliced citrus peel, and sliced jujube (WCJ). To find an optimal ratio, the cell survival of C6 (rat glioma) cultured under hypoxic conditions (1% O) was measured, and apoptosis was assessed. To confirm the efficacies of the optimized WCJ for VaD, pupillary light reflex, white matter damage, and the activation of astrocytes and microglia were assessed in a rat model of bilateral common carotid artery occlusion (BCCAO) causing chronic hypoperfusion. Using a combination of both searching the literature and cell survival experiments, we chose 6:2:1 as the optimal ratio of wheat bran to sliced citrus peel to sliced jujube to prepare WCJ. We showed that phytic acid contained only in wheat bran can be used as an indicator component for the quality control of WCJ. We observed in vitro that the WCJ treatment improved cell survival by reducing apoptosis through an increase in the Bcl-2/Bax ratio. In the BCCAO experiments, the WCJ-supplemented diet prevented astrocytic and microglial activation, mitigated myelin damage in the corpus callosum and optic tract, and, consequently, improved pupillary light reflex at dosages over 100 mg/kg/day. The results suggest that the consumption of WCJ can prevent VaD by reducing white matter damage, and WCJ can be developed as a safe, herbal medicine to prevent VaD.
PubMed: 38392214
DOI: 10.3390/cimb46020096