-
Clinical Case Reports Mar 2024Primary GBM of the optic nerve and chiasma should be included in the differential diagnosis of progressive lesions despite initial treatment; clinicians should avoid...
KEY CLINICAL MESSAGE
Primary GBM of the optic nerve and chiasma should be included in the differential diagnosis of progressive lesions despite initial treatment; clinicians should avoid delay in confirming the histology to initiate proper treatment and improve prognosis.
ABSTRACT
Primary GBM of the optic nerve or chiasma is very rare. The characteristics of this condition have not been well-described, which poses difficulties in establishing the correct diagnosis, affecting the treatment and the prognosis. We present a case of GBM of the optic chiasma diagnosed through an open biopsy at our centre. Following the PRISMA statement, we also conducted a systematic review after protocol registration in PROSPERO (CRD42021285855). We searched Medline and Embase through Ovid from inception until December 31, 2021. Two reviewers independently screened the studies. Studies were eligible for inclusion if they reported cases of primary GBM confined to the optic nerve or chiasma as the initial radiological diagnosis. A 77-year-old female was referred for progressive visual loss lasting 8 weeks. MRI revealed a suspected lesion in the left chiasma. The patient's vision deteriorated further despite initially diagnosing an inflammatory process and empirical treatment with corticosteroids. Subsequently, the patient underwent an open biopsy and surgical debulking. Histology, including epigenetic analysis, confirmed GBM grade IV. Radiochemotherapy was administered. The patient died 19 months after surgery. We identified 45 similar cases (22 female) reported in 35 studies between 1949 and 2020. The mean age of the cases was 61 (SD = 14.6). Most cases were misdiagnosed and mistreated accordingly, so there was a median delay of 8 weeks (IQR: 5-14 weeks) in obtaining histological confirmation of the diagnosis, delaying the initiation of appropriate treatment. Five cases became no treatment since the patients died shortly after the delayed histologic diagnosis. The Kaplan-Meier estimate indicated that most patients died within 20 months of presentation, with a 1-year survival rate of 50%, and untreated cases had very low survival rates compared to treated cases. Primary GBM of the optic nerve and chiasma is a rare condition primarily affecting adults. The rarity of this condition contributes to initial misdiagnosis, mistreatment, and delays in confirming the histology and initiating appropriate treatment. The prognosis remains poor, but treatment, including surgery and radiochemotherapy, improves survival.
PubMed: 38515994
DOI: 10.1002/ccr3.8636 -
European Journal of Case Reports in... 2024Acute bilateral blindness is an emergent condition that may signal life-threatening disease. The approach focuses on identification of life-threatening disease...
UNLABELLED
Acute bilateral blindness is an emergent condition that may signal life-threatening disease. The approach focuses on identification of life-threatening disease processes, while differentiating between ocular, psychogenic and neurologic aetiologies. We present the case of an 88-year-old man with multiple cardiovascular risk factors and bilateral chronic glaucoma and cataracts. He presented to the emergency department with sudden onset bilateral loss of visual acuity with no other relevant changes on physical examination, including other neurologic deficits. Ophthalmologic observation showed no sign of acute disease. Contrast orbit and cranioencephalic CT was unremarkable, so the patient underwent an orbit and cranioencephalic MRI that showed changes in fluid-attenuated inversion recovery (FLAIR) sequences and diffusion restriction involving the optic chiasm and the initial segment of the optic radiations bilaterally. Optic chiasm strokes are rare, owing to the rich supply of collateral circulation. The most frequent presentation is bitemporal hemianopsia but rarer presentations are described. Bilateral loss of visual acuity is very rare and infarction of the whole optic chiasm is unusual.
LEARNING POINTS
Acute bilateral blindness has an extensive differential diagnosis but chiasmopathy of ischaemic aetiology is rare.Optic chiasm stroke is rarely described in the literature and can pose a diagnostic challenge as its presentation can vary greatly.
PubMed: 38223280
DOI: 10.12890/2023_004213 -
JCEM Case Reports Jul 2023Olfactory neuroblastomas, or esthesioneuroblastomas, are rare and aggressive malignant tumors that typically arise from the olfactory neuroepithelium in the upper nasal...
Olfactory neuroblastomas, or esthesioneuroblastomas, are rare and aggressive malignant tumors that typically arise from the olfactory neuroepithelium in the upper nasal cavity. In rare instances, they can be ectopic originating from areas outside the upper nasal cavity such as the sellar region. These tumors, also known as primary sellar neuroblastomas, may be mistaken for pituitary macroadenomas. We present a rare case of a primary sellar neuroblastoma in a 30-year-old woman with a prior diagnosis of presumed prolactinoma, status post transsphenoidal resection, with residual visual deficits, who presented with worsening vision and headaches. Pituitary magnetic resonance imaging showed a large sellar mass causing compression of the optic chiasm, and invasion of the right cavernous sinus and bilateral cavernous internal carotid arteries. The patient underwent a second transsphenoidal resection. Postoperatively, she developed central adrenal insufficiency, central hypothyroidism, central hypogonadism, and transient syndrome of inappropriate antidiuretic hormone secretion. Owing to rapid tumor regrowth, she underwent a craniotomy with plans for radiation treatment. This condition is challenging to diagnose and has poorly defined clinical management guidelines. An early, aggressive approach with surgical intervention is recommended.
PubMed: 37908997
DOI: 10.1210/jcemcr/luad081 -
Scientific Reports Apr 2024We aimed to investigate the changes in cupping in chiasmal lesion optic neuropathy (chON) compared to baseline optic disc and glaucoma. We used a novel study design to...
We aimed to investigate the changes in cupping in chiasmal lesion optic neuropathy (chON) compared to baseline optic disc and glaucoma. We used a novel study design to enroll patients who had fundus photographs incidentally taken during routine health check-ups prior to the onset of optic neuropathy. In 31 eyes (21 patients) with chON and 33 eyes (30 patients) with glaucoma, we investigated the change in cup-to-disc (C/D) area from the baseline to overt cupping using flicker analysis. Compared to the baseline, 23 eyes (74.2%) had increased cup size and 3 (9.7%) had vascular configuration changes in the chONgroup; in contrast, all glaucoma eyes exhibited changes in cup size and vascular configuration. The increase in C/D area ratio was significantly smaller in chON (0.04 ± 0.04) compared to glaucoma (0.10 ± 0.04, P < 0.001); the minimum residual neuroretinal rim width showed a more pronounced difference (29.7 ± 8.2% vs 7.1 ± 3.9%, P < 0.001). The changes distributed predominantly towards the nasal direction in chON, contrasting the changes to the arcuate fibers in glaucoma. In conclusion, our results provide the first longitudinal evidence of true pathological cupping in chONcompared to photographically disease-free baseline. The marked difference in the residual minimum rim width reaffirms the importance of rim obliteration in the differential diagnosis between the two diseases.
Topics: Humans; Optic Disk; Glaucoma; Optic Nerve Diseases; Optic Chiasm; Fundus Oculi; Intraocular Pressure
PubMed: 38632299
DOI: 10.1038/s41598-024-59419-3 -
Chinese Clinical Oncology Aug 2023Radiation is integral to the treatment of glioblastoma (GBM). However, radiation-induced scalp toxicity can negatively impact patients' quality of life. Volumetric...
BACKGROUND
Radiation is integral to the treatment of glioblastoma (GBM). However, radiation-induced scalp toxicity can negatively impact patients' quality of life. Volumetric modulated arc therapy (VMAT) optimizes the dose to organs at risk (OARs). We hypothesize that a scalp-sparing VMAT (SSV) approach can significantly reduce undesirable doses to the scalp without compromising the target dose.
METHODS
This is a retrospective cross-sectional study of GBM patients who originally received radiation with non-SSV. We contoured the scalp as a 5 mm rind-like structure beneath the skin above the level of the foramen magnum. We replanned our patients using SSV techniques. We compared dosimetric data for the scalp, planning target volume (PTV), and select critical normal structures between non-SSV and SSV plans.
RESULTS
Nineteen patients with newly diagnosed GBMs were included in our study. All patients received 60 Gy in 30 fractions. 9 patients received it in a single course. The rest received 46 Gy in 23 fractions to an initial volume followed by 14 Gy in 7 fractions to a cone-down volume (split course). New VMAT plans were generated after adding the scalp as an OAR. The median scalp volume was 416 cm3 (363-468 cm3). The median reductions in scalp Dmin, Dmax, and Dmean were 43.5% (-100% to 0%), 2.8% (+13.4% to -24.9%), and 15.7% (+2.1% to -39.9%) respectively. Median reductions in scalp D20cc and D30 cc were 19.5% (-2.7% to -54.5%), and 19.0% (-5.3% to -39.5%) respectively. The median volumes of the scalp receiving 30 Gy, 40 Gy, and 50 Gy were reduced by 42.3% (-70.6% to -12.5%), 72% (-100% to -2.3%), and 92.4% (-100% to +5.4%) respectively. There were no significant differences in the doses delivered to the PTV, brainstem, optic nerves, and optic chiasm between SSV and non-SSV plans.
CONCLUSIONS
SSV can significantly reduce scalp radiation dose without compromising target coverage or critical normal structure doses. This may translate into reduced acute and late radiation toxicity to the scalp. A prospective trial evaluating the clinical benefits of SSV is ongoing (NCT03251027).
Topics: Humans; Cross-Sectional Studies; Glioblastoma; Prospective Studies; Quality of Life; Radiation Dosage; Radiotherapy, Intensity-Modulated; Retrospective Studies; Scalp; Clinical Trials as Topic
PubMed: 37699601
DOI: 10.21037/cco-23-15 -
International Journal of Molecular... Feb 2024We recently identified PKN1 as a developmentally active gatekeeper of the transcription factor neuronal differentiation-2 (NeuroD2) in several brain areas. Since NeuroD2...
We recently identified PKN1 as a developmentally active gatekeeper of the transcription factor neuronal differentiation-2 (NeuroD2) in several brain areas. Since NeuroD2 plays an important role in amacrine cell (AC) and retinal ganglion cell (RGC) type formation, we aimed to study the expression of NeuroD2 in the postnatal retina of WT and animals, with a particular focus on these two cell types. We show that PKN1 is broadly expressed in the retina and that the gross retinal structure is not different between both genotypes. Postnatal retinal NeuroD2 levels were elevated upon knockout, with retinae showing more NeuroD2 cells in the lower portion of the inner nuclear layer. Accordingly, immunohistochemical analysis revealed an increased amount of AC in postnatal and adult retinae. There were no differences in horizontal cell, bipolar cell, glial cell and RGC numbers, nor defective axon guidance to the optic chiasm or tract upon knockout. Interestingly, we did, however, see a specific reduction in SMI-32 α-RGC in retinae. These results suggest that PKN1 is important for retinal cell type formation and validate PKN1 for future studies focusing on AC and α-RGC specification and development.
Topics: Animals; Retina; Retinal Ganglion Cells; Amacrine Cells; Optic Chiasm; Transcription Factors
PubMed: 38474095
DOI: 10.3390/ijms25052848 -
Frontiers in Oncology 2023Radiation therapy is a common treatment option for Head and Neck Cancer (HNC), where the accurate segmentation of Head and Neck (HN) Organs-AtRisks (OARs) is critical...
INTRODUCTION
Radiation therapy is a common treatment option for Head and Neck Cancer (HNC), where the accurate segmentation of Head and Neck (HN) Organs-AtRisks (OARs) is critical for effective treatment planning. Manual labeling of HN OARs is time-consuming and subjective. Therefore, deep learning segmentation methods have been widely used. However, it is still a challenging task for HN OARs segmentation due to some small-sized OARs such as optic chiasm and optic nerve.
METHODS
To address this challenge, we propose a parallel network architecture called PCG-Net, which incorporates both convolutional neural networks (CNN) and a Gate-Axial-Transformer (GAT) to effectively capture local information and global context. Additionally, we employ a cascade graph module (CGM) to enhance feature fusion through message-passing functions and information aggregation strategies. We conducted extensive experiments to evaluate the effectiveness of PCG-Net and its robustness in three different downstream tasks.
RESULTS
The results show that PCG-Net outperforms other methods, improves the accuracy of HN OARs segmentation, which can potentially improve treatment planning for HNC patients.
DISCUSSION
In summary, the PCG-Net model effectively establishes the dependency between local information and global context and employs CGM to enhance feature fusion for accurate segment HN OARs. The results demonstrate the superiority of PCGNet over other methods, making it a promising approach for HNC treatment planning.
PubMed: 37927463
DOI: 10.3389/fonc.2023.1177788 -
Annals of Palliative Medicine Mar 2024Because of improved survival of cancer patients, more patients irradiated for brain metastases develop intracerebral recurrences requiring subsequent courses of...
Because of improved survival of cancer patients, more patients irradiated for brain metastases develop intracerebral recurrences requiring subsequent courses of radiotherapy. Five studies focused on reirradiation with whole-brain radiation therapy (WBRT) after initial WBRT for brain metastases. Following the second WBRT course, improvement of clinical symptoms was found in 31-68% of patients. Rates of neurotoxicity, such as encephalopathy or cognitive decline, were reported in two studies (1.4% and 32%). In another study, severe or unexpected adverse events were not observed. Survival following the second WBRT course was generally poor, with median survival times of 2.9-4.1 months. The survival prognosis of patients receiving two courses of WBRT can be estimated by a scoring tool considering five prognostic factors. Three studies investigated reirradiation with single-fraction stereotactic radiosurgery (SF-SRS) following primary WBRT. One-year local control rates were 74-91%, and median survival times ranged between 7.8 and 14 months. Rates of radiation necrosis (RN) after reirradiation were 0-6%. Seven studies were considered that investigated re-treatment with SF-SRS or fractionated stereotactic radiation therapy (FSRT) following initial SF-SRS or FSRT. One-year local control rates were 60-88%, and the median survival times ranged between 8.3 and 25 months. During follow-up after reirradiation, rates of overall (asymptomatic or symptomatic) RN ranged between 12.5% and 30.4%. Symptomatic RN occurred in 4.3% to 23.9% of cases (patients or lesions). The risk of RN associated with symptoms and/or requiring surgery or corticosteroids appears lower after reirradiation with FSRT when compared to SF-SRS. Other potential risk factors of RN include the volume of overlap of normal tissue receiving 12 Gy at the first course and 18 Gy at the second course of SF-SRS, maximum doses ≥40 Gy of the first or the second SF-SRS courses, V12 Gy >9 cm3 of the second course, initial treatment with SF-SRS, volume of normal brain receiving 5 Gy during reirradiation with FSRT, and systemic treatment. Cumulative EQD2 ≤100-120 Gy2 to brain, <100 Gy2 to brainstem, and <75 Gy2 to chiasm and optic nerves may be considered safe. Since most studies were retrospective in nature, prospective trials are required to better define safety and efficacy of reirradiation for recurrent or progressive brain metastases.
PubMed: 38509654
DOI: 10.21037/apm-23-593 -
Child's Nervous System : ChNS :... Apr 2024Intracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus,... (Review)
Review
BACKGROUND
Intracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus, visual disturbances, hypopituitarism, and diabetes insipidus. Initial diagnosis can be challenging due to similar radiological features in both teratomas and other lesions such as craniopharyngiomas. Gross total resection is recommended if feasible and associated with a good prognosis.
CASE DESCRIPTION
A 10-year-old girl presented with newly diagnosed growth retardation, fatigue, cephalgia and bilateral hemianopia. Further laboratory analysis confirmed central hypothyroidism and hypercortisolism. Cranial magnetic resonance imaging showed a cystic space-occupying lesion in the sellar and suprasellar compartment with compression of the optic chiasm without hydrocephalus present, suspicious of craniopharyngioma. Subsequently, an endonasal endoscopic transsphenoidal near-total tumor resection with decompression of the optic chiasm was performed. During postoperative recovery the patient developed transient diabetes insipidus, the bilateral hemianopia remained unchanged. The patient could be discharged in a stable condition, while hormone replacement for multiple pituitary hormone deficiency was required. Surprisingly, histopathology revealed conspicuous areas of skin with formation of hairs and squamous epithelia, compatible with a mature teratoma.
CONCLUSIONS
We present an extremely rare case of pediatric sellar teratoma originating from the pituitary gland and a review of literature focusing on the variation in presentation and treatment. Sellar teratomas are often mistaken for craniopharyngioma due to their similar radiographic appearances. However, the primary goal of treatment for both pathologies is to decompress eloquent surrounding structures such as the optic tract, and if applicable, resolution of hydrocephalus while avoiding damage to the pituitary stalk and especially the hypothalamic structures. If feasible, the aim of surgery should be gross total resection.
Topics: Female; Humans; Child; Craniopharyngioma; Hemianopsia; Pituitary Neoplasms; Hypopituitarism; Diabetes Insipidus; Central Nervous System Neoplasms; Teratoma; Hydrocephalus
PubMed: 38276973
DOI: 10.1007/s00381-024-06296-w -
Thyroid Research Feb 2024Coexistence of TSH-secreting pituitary adenoma (TSHoma) and Graves' disease (GD) is rare and complicates the management decision.
BACKGROUND
Coexistence of TSH-secreting pituitary adenoma (TSHoma) and Graves' disease (GD) is rare and complicates the management decision.
METHODS
We present a case of the co-existence of TSHoma and GD. In addition, we systematically searched articles describing TSHoma and GD in the same patient published until 20th March 2023, using Pubmed, Scopus and Embase.
CASE PRESENTATION
A 46-year-old man presented with symptoms of thyrotoxicosis. His thyroid function tests showed serum TSH 3.35 (reference range 0.3-4.2) mIU/L, FT3 19.7 (3.7-6.4) pmol/L, and FT4 68.9 (11-23.3) pmol/L. The serum TSH receptor antibody was 11.5 mIU/L (positive at ≥ 1.75 mIU/L). Pituitary magnetic resonance imaging showed macroadenoma compressing the optic chiasm. The patient underwent trans-sphenoidal resection of pituitary adenoma. Postoperatively, he remained on maintenance carbimazole and octreotide.
RESULTS
Fourteen articles comprising 15 patients were identified from the systemic search. A total of 16 patients (including the current case) were included in the systematic review. The mean (± SD) age at diagnosis was 41 ± 13.6 years. The majority were females (75%). The median (IQR) TSH was 1.95 (0.12-5.5) mIU/L, the median (IQR) free T3 was 11.7 (7.6-19.7) pmol/L and the median (IQR) free T4 level was 47.6 (33.3-64.4) pmol/L. Ten (76.9%) patients had positive TSH receptor antibody levels. 84.6% had pituitary macroadenoma. Pituitary surgery was performed in 12 (75%) patients. At the last follow-up, 4 (25%) patients had complete resolution of symptoms after pituitary surgery, 3 (18.7%) were on maintenance treatment with thionamides for GD, 1 (6.25%) on beta-blockers and 1 (6.25%) on somatostatin analog.
CONCLUSION
TSHoma and GD can co-exist, and it is essential to identify this rare association as it can significantly impact treatment strategies.
PubMed: 38311752
DOI: 10.1186/s13044-023-00184-2