| 1. |
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| 2. |
- Amiri-Mosavi, A, et al.
(författare)
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Expression of cholecystokinin-B/gastrin receptors in medullary thyroid cancer.
- 1999
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Ingår i: The European journal of surgery = Acta chirurgica. - : Oxford University Press (OUP). - 1102-4151. ; 165:7, s. 628-31
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Tidskriftsartikel (refereegranskat)abstract
- To characterise the cholecystokinin (CCK) receptor subtypes in medullary thyroid cancer by measuring the expression of CCK-A and CCK-B/gastrin receptor mRNA.
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| 3. |
- Tisell, L E, et al.
(författare)
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The Ki67 index a prognostic marker in medullary thyroid carcinoma.
- 2003
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Ingår i: British journal of cancer. - : Springer Science and Business Media LLC. - 0007-0920 .- 1532-1827. ; 89:11, s. 2093-7
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Tidskriftsartikel (refereegranskat)abstract
- Our objective was to examine the usefulness of the Ki67 proliferation index as a prognostic marker in patients with medullary thyroid carcinoma (MTC). It is difficult to predict the prognosis of MTC by using conventional prognostic factors. Immunocytochemical analysis of tumour proliferation has been used as a prognostic tool in some tumours, but only rarely in MTC. In all, 71 tumours from 36 patients were investigated, by using a semiautomatic image analysis programme. On average 10,000 nuclear profiles were counted per tumour, and the percentage of tumour cells expressing the proliferation marker, Ki67, was calculated. Primary tumours that had metastasised had higher Ki67 indices than primary tumours that had not metastasised. Recurrent lymph node metastasis had higher Ki67 indices than the primary tumours. By using a Poisson model, it was possible to estimate the median survival time for individual patients if the Ki67 index for the primary tumour and the age at surgery were known. The higher the Ki67 index and the age at operation were, the shorter was the survival. Estimating the median survival of individual patients will be of help for planning the patients' life and postoperative follow-up and treatment.
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| 4. |
- Deland, Lily, et al.
(författare)
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Discovery of a rare GKAP1-NTRK2 fusion in a pediatric low-grade glioma, leading to targeted treatment with TRK-inhibitor larotrectinib
- 2021
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Ingår i: Cancer Biology & Therapy. - : Taylor & Francis. - 1538-4047 .- 1555-8576. ; 22:3, s. 184-195
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Tidskriftsartikel (refereegranskat)abstract
- Here we report a case of an 11-year-old girl with an inoperable tumor in the optic chiasm/hypothalamus, who experienced several tumor progressions despite three lines of chemotherapy treatment. Routine clinical examination classified the tumor as a BRAF-negative pilocytic astrocytoma. Copy-number variation profiling of fresh frozen tumor material identified two duplications in 9q21.32–33 leading to breakpoints within the GKAP1 and NTRK2 genes. RT-PCR Sanger sequencing revealed a GKAP1-NTRK2 exon 10–16 in-frame fusion, generating a putative fusion protein of 658 amino acids with a retained tyrosine kinase (TK) domain. Functional analysis by transient transfection of HEK293 cells showed the GKAP1-NTRK2 fusion protein to be activated through phosphorylation of the TK domain (Tyr705). Subsequently, downstream mediators of the MAPK- and PI3K-signaling pathways were upregulated in GKAP1-NTRK2 cells compared to NTRK2 wild-type; phosphorylated (p)ERK (3.6-fold), pAKT (1.8- fold), and pS6 ribosomal protein (1.4-fold). Following these findings, the patient was enrolled in a clinical trial and treated with the specific TRK-inhibitor larotrectinib, resulting in the arrest of tumor growth. The patient’s condition is currently stable and the quality of life has improved significantly. Our findings highlight the value of comprehensive clinical molecular screening of BRAF-negative pediatric low-grade gliomas, to reveal rare fusions serving as targets for precision therapy.
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| 5. |
- Deland, Lily, et al.
(författare)
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Novel TPR::ROS1 Fusion Gene Activates MAPK, PI3K and JAK/STAT Signaling in an Infant-type Pediatric Glioma.
- 2022
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Ingår i: Cancer genomics & proteomics. - : Anticancer Research USA Inc.. - 1109-6535 .- 1790-6245. ; 19:6, s. 711-726
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Tidskriftsartikel (refereegranskat)abstract
- Although fusion genes involving the proto-oncogene receptor tyrosine kinase ROS1 are rare in pediatric glioma, targeted therapies with small inhibitors are increasingly being approved for histology-agnostic fusion-positive solid tumors.Here, we present a 16-month-old boy, with a brain tumor in the third ventricle. The patient underwent complete resection but relapsed two years after diagnosis and underwent a second operation. The tumor was initially classified as a low-grade glioma (WHO grade 2); however, methylation profiling suggested the newly WHO-recognized type: infant-type hemispheric glioma. To further refine the molecular background, and search for druggable targets, whole genome (WGS) and whole transcriptome (RNA-Seq) sequencing was performed.Concomitant WGS and RNA-Seq analysis revealed several segmental gains and losses resulting in complex structural rearrangements and fusion genes. Among the top-candidates was a novel TPR::ROS1 fusion, for which only the 3' end of ROS1 was expressed in tumor tissue, indicating that wild type ROS1 is not normally expressed in the tissue of origin. Functional analysis by Western blot on protein lysates from transiently transfected HEK293 cells showed the TPR::ROS1 fusion gene to activate the MAPK-, PI3K- and JAK/STAT- pathways through increased phosphorylation of ERK, AKT, STAT and S6. The downstream pathway activation was also confirmed by immunohistochemistry on tumor tissue slides from the patient.We have mapped the activated oncogenic pathways of a novel ROS1-fusion gene and broadened the knowledge of the newly recognized infant-type glioma subtype. The finding facilitates suitable targeted therapies for the patient in case of relapse.
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| 6. |
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| 7. |
- Eijkholt, M, et al.
(författare)
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Should neurosurgeons continue to work in the absence of personal protective equipment during the COVID-19 era?
- 2021
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Ingår i: Acta neurochirurgica. - : Springer Science and Business Media LLC. - 0942-0940 .- 0001-6268. ; 163:3, s. 593-598
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Tidskriftsartikel (refereegranskat)abstract
- The COVID-19 pandemic has resulted in a widespread shortage of personal protective equipment (PPE). Many healthcare workers, including neurosurgeons, have expressed concern about how to safely and adequately perform their medical responsibilities in these challenging circumstances. One of these concerns revolves around the pressing question: should providers continue to work in the absence of adequate PPE? Although the first peak of the COVID-19 crisis seems to have subsided and supply of PPE has increased, concerns about insufficient PPE availability remain. Inconsistent supply, limited efficacy, and continued high demand for PPE, combined with the continued threat of a second COVID-19 wave, mean that the issues surrounding PPE availability remain unresolved, including a duty to work. This paper offers an ethical investigation of whether neurosurgeons should perform their professional responsibilities with limited availability of PPE. We evaluate ethical considerations and conflicting duties and thereby hope to facilitate providers in making a well-considered personal and moral decision about this challenging issue.
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| 8. |
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| 9. |
- Fjälling, M, et al.
(författare)
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Systemic radionuclide therapy using indium-111-DTPA-D-Phe1-octreotide in midgut carcinoid syndrome.
- 1996
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Ingår i: Journal of nuclear medicine : official publication, Society of Nuclear Medicine. - 0161-5505. ; 37:9, s. 1519-21
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Tidskriftsartikel (refereegranskat)abstract
- A 55-yr-old woman with a midgut carcinoid syndrome due to metastatic spread of an ileal tumor to the liver, paraortic and mediastinal lymph nodes and to the skeleton was given systemic radionuclide therapy with 111In-DTPA-D-Phe1-octreotide. Before therapy, dosimetric calculations were performed on whole-body scintigraphs and 111In retention was shown to be long-lasting. Excretion was mainly seen during the first 24 hr after injection; thereafter whole-body retention remained stationary at 30%. Indium-111 activity in tumor biopsies and blood was measured using a gamma counter. Very high tumor-to-blood ratios were obtained: 150 for the primary tumor and 400-650 for liver metastases, which further justified radiation therapy. Indium-111-DTPA-D-Phe1-octreotide treatment was given on three separate occasions (3.0, 3.5 and 3.1 GBq) 8 and 4 wk apart. After each therapy, the patient experienced facial flush and pain over the skeletal lesions followed by symptomatic relief, even though no objective tumor regression was found radiologically after 5 mo. After initiation of octreotide treatment, there was a 14% reduction of the main tumor marker, urinary 5-HIAA. After three subsequent radionuclide therapies, there was a further 31% reduction of 5-HIAA levels. No adverse reactions, other than a slight decrease in leukocyte counts, were seen. The mean absorbed radiation dose after the three treatments was estimated to be about 10-12 Gy in liver metastases and 3-6 Gy in other tumors, depending on the size and location of the metastases. Assuming internalization of 111In into tumor cells and a radiobiological effect from short range Auger and conversion electrons, there might be a therapeutic effect on the tumor.
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| 10. |
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| 11. |
- Herdell, V., et al.
(författare)
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Surgical outcomes of pediatric brain tumors in Sub-Saharan Africa: A systematic review
- 2022
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Ingår i: Brain and Spine. - : Elsevier BV. - 2772-5294. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- Background: Pediatric Brain Tumors (PBT) are a common cause of cancer-related mortality globally. Contrary to high-income countries (HIC), survival rates in low-and-middle income countries (LMIC) remains low despite advances in neurosurgical care and diagnostics over the past decades. The aim of this systematic review was to investigate the surgical outcomes for PBT in Sub-Saharan Africa, and the distribution of PBT types.Methods: A systematic review was conducted on PubMed, for all available literature on the surgical outcomes of PBT in Sub-Saharan Africa, published before May 3, 2022. Two reviewers performed abstract, full text screening and data collection independently, resolving any conflicts by consensus.Results: The search yielded 256 studies, of which 22 met the inclusion criteria, amounting to a total of 243 pa-tients. Nigeria was the country with most data. Only subgroups of patients could be extracted from 12 studies, and variables of interest in 6 studies had inconsistent sample sizes. The age centered around 9 years, and there were approximately equal number of girls and boys. The most common tumor was medulloblastoma, followed by craniopharyngioma and astrocytoma. There was large heterogeneity in the reporting of outcomes, and a trend was difficult to discern, considering the large number of different tumor types and different extents of resection.Discussion and conclusion: Data is insufficient and inconsistent, precluding statistical conclusions. There is a need for more studies in the field.
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| 12. |
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| 13. |
- Kamtchum-Tatuene, J., et al.
(författare)
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A 42-year-old woman with subacute reversible dementia: A cautionary tale
- 2017
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Ingår i: Malawi Medical Journal. - : African Journals Online (AJOL). - 1995-7262. ; 29:3, s. 265-267
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Tidskriftsartikel (refereegranskat)abstract
- A 42-year-old woman presented with a 6-month history of diffuse headache of moderate intensity and gradual onset of generalized weakness, imbalance, apathy, memory decline, hypophonia, dysphagia, constipation and urinary incontinence. Clinical examination revealed several elements of a frontal lobe dysfunction including apathy with motor impersistence, presence of primitive reflexes, generalized hyperreflexia with bilateral Hoffman sign and ankle clonus. The biological workup was unremarkable and a brain computed tomography scan identified a giant olfactory groove meningioma. A prompt neurosurgical intervention helped to reverse the symptoms. This case illustrates the benefits of actively looking for treatable conditions in young patients presenting with acute or subacute dementia and emphasizes the pivotal role of early brain imaging.
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| 14. |
- Khorram-Manesh, Amir, 1958, et al.
(författare)
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Long-term outcome of a large series of patients surgically treated for pheochromocytoma
- 2005
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Ingår i: Journal of internal medicine. - 0954-6820. ; 258:1, s. 55-66
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To analyse the morbidity, mortality and long-term outcome in a consecutive series of surgically treated patients with pheochromocytoma (PC), or paraganglioma (PG), from the western region of Sweden between 1950 and 1997. PATIENTS: All patients (n = 121) who had been hospitalized and treated for PC/PG over 47 years. DESIGN: Retrospective review of patients with PC/PG regarding presenting symptoms, tumour characteristics, clinical management and long-term outcome after treatment. SETTING: One referral centre for all patients from the western region of Sweden. RESULTS: During an observation of 15 +/- 6 years, 42 patients died vs. 23.6 expected in the general population (P < 0.001). There was no intra- or post-operative mortality. Four patients with sporadic disease died of malignant PC and six with hereditary disease of associated neuroectodermal tumours. Five patients died of other malignancies, 20 of cardiovascular disease and seven of other causes. Besides older age at primary surgery, elevated urinary excretion of methoxy-catecholamines was the only observed risk factor for death (P = 0.02). At diagnosis 85% of the patients were hypertensive; one year after surgery more than half were still hypertensive. However, pre- and post-operative hypertension did not influence the risk for death versus controls. CONCLUSION: Pheochromocytoma/PG can be safely treated by surgery. Death of malignant PC/PG was unusual, but the patients as a group had an increased risk of death. We recommend life-long follow-up of patients treated for PC/PG with screening for recurrent tumour in sporadic cases and for associated tumours in hereditary cases. This strategy would also be helpful in diagnosing cardiovascular disease at an early stage.
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| 15. |
- Lindskog, Stefan, et al.
(författare)
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[Phenotypic expression of a mutation in MEN 2A documented in a family in the western part of Sweden]. : Fenotypiskt uttryck av mutation vid MEN 2A kartlagd i västsvensk familj.
- 2001
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Ingår i: Lakartidningen. - 0023-7205. ; 98:35
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A missense mutation at codon 618 of the RET proto-oncogene is a rather unusual cause of multiple endocrine neoplasia 2A. We report the phenotypic expression of this specific RET mutation in a large Swedish family. The family was mapped back to the 18th century. Since 1971 the family has been included in a biochemical screening program, and since 1994 has undergone genetic screening. Twenty-seven individuals were found to have medullary thyroid carcinoma (MTC). Eighteen were detected by screening. The incidence of pheochromocytoma (4%) and hyperparathyroidism (7%) was low. Five individuals died of MTC, but of these none had been included in the screening program. One patient underwent prophylactic thyroidectomy after positive genetic screening. MTC tumor aggressivity differed markedly between gene carriers. The screening program shows that the clinical aggressivity of MTC can be mitigated by early and adequate surgical intervention.
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| 16. |
- Lundin, Fredrik, et al.
(författare)
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Pre-Postoperative 1H-MRS-Changes in Frontal Deep White Matter and the Thalamus in Idiopathic Normal Pressure Hydrocephalus
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- In a previous study we found a significantly decreased N-acetylaspartate (NAA) and total N-acetyl groups (tNA) in the thalamus in patients with idiopathic normal pressure hydrocephalus (iNPH) compared with healthy individuals (HI). No significant difference between the groups could be found in the frontal deep white matter (FDWM). The primary aim of this study was to investigate if these metabolites in the thalamus were normalised after shunt surgery. The secondary aim was to investigate postoperative metabolic changes in FDWM.Subjects and Methods: Fourteen iNPH-patients, mean age 74 years, and 15 HI, also mean age 74 years, were examined. Assessment of motor scores was performed before and after shunt surgery. Absolute quantitative 1H-MRS (1.5 T, VOI 2.5-3 mL) was performed on the patients in the FDWM and in the thalamus, before and three months after shunt surgery, and also once on the HI. The following metabolites were analysed: tNA, NAA, total creatine (tCr), total choline (tCho), myo-inositol (mIns), glutamate (Glu), and lactate (Lac) concentrations. MRI volumetric calculations of the lateral ventricles were also performed.Results: At three months postoperatively, we found no significant changes of tNA or NAA in the thalamus. In contrast, in FDWM, there was a significant increase of tCho (p=0.01) and a borderline significant decrease of mIns (p=0.06). 12/14 patients were shunt responders (motor function). Median reduction of the lateral ventricle was 16%. A weak correlation between motor score (MOS) and ventricular reduction was observed.Conclusion: Normalisation of thalamic tNA and NAA could not be detected postoperatively. The increased tCho and decreased mIns in the FDWM postoperatively might relate to clinical improvement.
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| 17. |
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| 18. |
- Nilsson, Daniel, 1973, et al.
(författare)
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Decreased head circumference in shunt-treated compared with healthy children
- 2013
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Ingår i: Journal of Neurosurgery-Pediatrics. - : Journal of Neurosurgery Publishing Group (JNSPG). - 1933-0707 .- 1933-0715. ; 12:5, s. 483-490
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Tidskriftsartikel (refereegranskat)abstract
- Object. In this study, the authors' goal was to compare head circumference in hydrocephalic children during the first 4 years of ventriculoperitoneal (VP) shunt treatment with data on healthy children and to investigate predictors of skull growth in children with a VP shunt. Methods. Children from western Sweden treated for hydrocephalus with an initial VP shunt insertion performed between 2001 and 2006 who were younger than 12 months of age at the time of surgery were included. Children with major brain malformations, craniofacial syndromes, large cysts, and tumors were excluded. Head circumference, weight, and height at 9 defined ages up to 4 years were obtained and compared with data from a reference population of 3650 healthy children using the standard deviation score (SDS). Predictors (length, weight, etiology of hydrocephalus, valve type, number of revisions, valve setting, number of adjustments, and time of first surgery) for head circumference SDS and changes in head circumference SDS from shunt insertion at 1 year to last measurement were analyzed using bivariate and multiple linear regression analysis. Results. Fifty children were included. The mean SDSs for head circumference in shunt-treated compared with healthy children were 1.95 +/- 2.50 at shunt insertion (p < 0.001, n = 44), 0.38 +/- 1.97 at 1 year (p = 0.27, n = 33), -0.96 +/- 2.05 at 2 years (p = 0.046, n = 21), -1.39 +/- 2.25 at 3 years (p = 0.026, n = 16), and 0.63 +/- 3.34 at 4 years (p = 0.73, n = 4). Significant predictors for low head circumference SDS at 1 year of age were low weight (p = 0.002) and short height (p = 0.022) and at last measurement low weight (p < 0.0001), short height (p = 0.002), and 1-4 shunt revisions (p = 0.034). A significant predictor for change in head circumference SDS from shunt insertion to 1 year of age was the number of shunt valve revisions (p = 0.04) and at last measurement an etiology of intraventricular hemorrhage (p = 0.0058). Conclusions. Shunt-treated children have smaller head circumferences at 2 and 3 years of age than healthy children. Low weight, short height, etiology of intraventricular hemorrhage, and frequent shunt valve revisions are predictors for decreased head circumference. Prospective, randomized studies comparing skull growth using fixed and adjustable pressure-regulated shunt valves and flow-regulated valves are needed.
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| 19. |
- Nistér, M, et al.
(författare)
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The Swedish Biobank for Childhood Tumors
- 2014
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Ingår i: 7th research meeting in Network for NeuroBlastoma and CNS-tumor research in children, Hässelby, Stockholm, November 10-11, 2014..
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Konferensbidrag (refereegranskat)
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| 20. |
- Schepke, Elizabeth, et al.
(författare)
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Effects of the growth pattern of medulloblastoma on short-term neurological impairments after surgery: results from the prospective multicenter HIT-SIOP PNET 4 study
- 2020
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Ingår i: Journal of Neurosurgery-Pediatrics. - 1933-0707. ; 25:4, s. 425-433
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE Extensive resection of a tumor in the posterior fossa in children is associated with the risk of neurological deficits. The objective of this study was to prospectively evaluate the short-term neurological morbidity in children after medulloblastoma surgery and relate this to the tumor's growth pattern and to the extent of resection. METHODS In 160 patients taking part in the HIT-STOP PNET 4 (Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma) trial, neurosurgeons prospectively responded to questions concerning the growth pattern of the tumor they had resected. The extent of resection (gross, near, or subtotal) was evaluated using MRI. The patients' neurological status before resection and around 30 days after resection was recorded. RESULTS Invasive tumor growth, defined as local invasion in the brain or meninges, cranial nerve, or major vessel, was reported in 58% of the patients. After surgery almost 70% of all patients were affected by one or several neurological impairments (e.g., impaired vision, impaired extraocular movements, and ataxia). However, this figure was very similar to the preoperative findings. Invasive tumor growth implied a significantly higher number of impairments after surgery (p = 0.03) and greater deterioration regarding extraocular movements (p = 0.012), facial weakness (p = 0.048), and ataxia in the arms (p = 0.014) and trunk (p = 0.025) compared with noninvasive tumor growth. This deterioration was not dependent on the extent of resection performed. Progression-free survival (PFS) at 5 years was 80% +/- 4% and 76% +/- 5% for patients with invasive and noninvasive tumor growth, respectively, with no difference in the 5-year PFS for extent of resection. CONCLUSIONS Preoperative neurological impairments and invasive tumor growth were strong predictors of deterioration in short-term neurological outcome after medulloblastoma neurosurgery, whereas the extent of resection was not . Neither tumor invasiveness nor extent of resection influenced PFS. These findings support the continuation of maximal safe resection in medulloblastoma surgery where functional risks are not taken in areas with tumor invasion.
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| 21. |
- Uche, E. O., et al.
(författare)
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Pediatric brain tumor care in a Sub-Saharan setting: current poise of a precariously loaded dice
- 2021
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Ingår i: British Journal of Neurosurgery. - : Informa UK Limited. - 0268-8697 .- 1360-046X. ; 35:2, s. 174-180
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate the current status of pediatric brain tumor (PBT) care and identify determinants and profiles of survival and school attendance Methods: An 8-year institution-based prospective longitudinal study. All cases investigated with neuroimaging and treated were enrolled. Data was analyzed with SPSS (Inc) Chicago IL, USA version 23. Chi Square test, One-way ANOVA and confidence limits were used to evaluate associations at the 95% level of significance. Ethical approval for our study was obtained Health Research Ethics Committee of our hospital. Results: Among 103 patients enrolled, 92 satisfied our study criteria. There were 45 males and 39 females, M: F = 0.8. The mean age was 9.5 ± 2.1 years 95%CI with a range of 7 months to 16 years. The most common symptom was headache for supratentorial lesions (73%) and gait disturbance (80.2%) for infratentorial lesions. More tumors were supratentorial in location 51 (55.4%), 35 (38.1%) were infratentorial and 6 (6.5%) were transtentorial. Craniopharyngiomas (n = 23), medulloblastomas (n = 22) and astrocytomas (n = 15) were the most common tumors. Hemoglobin genotype (AA and AS) had some influence on tumor phenotype FT, P = 0.033. 76 cases were microsurgically resected while 16 patients were treated with radiotherapy alone. The 30-day mortality for operated cases is 7.2 ± 0.7%. Overall 1-year and 5-year survival was 66.7 and 52.3%, respectively. School attendance, performance and outcome varied among treatment subgroups. Conclusion: Survival profile in this series suggests some improvement in comparison to previous studies from our region, Hemoglobin genotype profiles may signature paediatric brain tumor phenotypes in our setting. © 2020, © 2020 The Neurosurgical Foundation.
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| 22. |
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