Papers by Krisztina Míta Gábor
Journal of Neural Transmission, 2000
A considerable rate of misdiagnosis has recently been reported in movement disorders. One of the ... more A considerable rate of misdiagnosis has recently been reported in movement disorders. One of the most difficult clinical problems is the differentiation of Parkinson's disease and essential tremor. In this study, we have examined whether event-related potentials (ERPs) could aid in the solution of this differential diagnostic problem. Visual ERPs were obtained by using an "oddball" paradigm in 20 patients with idiopathic Parkinson's disease (IPD), 20 patients with essential tremor (ET), and 20 age-matched control subjects. We found that the P300 amplitudes were selectively reduced in the IPD group at the midline (Fz, Cz, Pz) electrode sites, whereas the ET group exhibited selectively elevated P300 amplitudes at the left parietal and frontal (F3, P3) recording sites. The patients with IPD, but not ET, showed a significant prolongation of the P300 latency at each electrode site. Similarly, only the IPD patients were significantly slower in responding to the target stimulus. The primary visual evoked potential (P100) did not distinguish among the IPD, ET, and control subjects. These results suggest that visual ERPs might provide a useful diagnostic method for differentiating IPD from ET.
Pathology & Oncology Research, Jun 9, 2023
Introduction: Angiocentric gliomas (AG) in brainstem location are exceedingly rare and might caus... more Introduction: Angiocentric gliomas (AG) in brainstem location are exceedingly rare and might cause differential diagnostic problems and uncertainty regarding the best therapeutic approach. Hereby, we describe the clinicopathological findings in a brainstem AG presenting in a toddler child and review the literature. Case report: A 2-year-old boy presented with 5 weeks history of gait disturbances, frequent falls, left-sided torticollis and swallowing problems. MRI head showed a T2-hyperintense, partly exophytic mass lesion centred in the pontomedullary region, raising the possibility of diffuse midline glioma. The exophytic component was partially resected by suboccipital craniotomy, leaving intact the infiltrative component. Ventriculoperitoneal shunt was implanted due to postoperative hydrocephalus. Histological examination revealed a moderately cellular tumour consisted of bland glial cells infiltrating the brain parenchyma and radially arranged around the blood vessels. By immunohistochemistry, the tumour strongly expressed S100 and GFAP in addition to intense nestin positivity, while OLIG2 was negative in the perivascular tumour cells. DNA methylation array profiled the tumour as "methylation class diffuse astrocytoma, MYB or MYBL1-altered subtype B (infratentorial)" and an in-frame MYB::QKI fusion was identified by RNA sequencing, confirming the diagnosis of angiocentric glioma. The patient has been initially treated with angiogenesis inhibitor and mTOR inhibitor, and now he is receiving palliative vinblastine. He is clinically stable on 9 months follow-up.
Annals of Oncology, 2020
Background: FGFR-inhibitors (FGFRi) show antitumor activity in cancers driven by FGFR genetic alt... more Background: FGFR-inhibitors (FGFRi) show antitumor activity in cancers driven by FGFR genetic alterations (GA). Derazantinib (DZB) is in Phase 2 development for UC (NCT04045613), erdafitinib (ERDA) is FDA approved for advanced UC with FGFR GA.
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Magyar onkologia, 2004
Langerhans cell histiocytosis (LCH) in children is relatively rare, and the long-term analysis of... more Langerhans cell histiocytosis (LCH) in children is relatively rare, and the long-term analysis of therapy results has not been done yet in Hungary. In this review we summarise the incidence, clinical features, prognostic risk factors and treatment results of children's LCH in Hungary, using data from the National Childhood Cancer Registry in Hungary in a 20-year period between 1981 and 2000. From January 1981 to December 2000, 111 children under 18 years of age were newly diagnosed with LCH in Hungary. The male-female ratio was 1.36:1, the mean age: 4 years 11 months. The minimal and median follow-up time was 3.48 years and 10.98 years respectively. 38 children had single-system disease, while in 73 cases we found systemic dissemination already at the time of diagnosis. Twenty-two patients were treated only by local surgery, 7 by surgery with local irradiation and 5 children received only local irradiation. In two cases remission was obtained with local steroid administration. 7...
Pediatric Blood & Cancer, 2015
Pediatric Blood & Cancer, 2017
Pseudomyogenic hemangioendothelioma (PMH) is a rare, mostly indolent vascular tumor. Extensive ca... more Pseudomyogenic hemangioendothelioma (PMH) is a rare, mostly indolent vascular tumor. Extensive cases are treated with amputation as chemotherapy seems to be ineffective. Recently, promising results were published using mammalian target of rapamycin (mTOR) inhibitors in tumors of vascular origin. Here, we present a case of a child with advanced PMH relapsing after surgery and chemotherapy. Sirolimus achieved significant clinical improvement and stabilization of the lesions without any remarkable toxicity. This case contributes to the growing evidence regarding the efficacy of mTOR inhibitors, such as sirolimus, in multifocal PMH.
World Journal of Pediatrics
World Journal of Pediatrics
Background The utility of routine extensive molecular profiling of pediatric tumors is a matter o... more Background The utility of routine extensive molecular profiling of pediatric tumors is a matter of debate due to the high number of genetic alterations of unknown significance or low evidence and the lack of standardized and personalized decision support methods. Digital drug assignment (DDA) is a novel computational method to prioritize treatment options by aggregating numerous evidence-based associations between multiple drivers, targets, and targeted agents. DDA has been validated to improve personalized treatment decisions based on the outcome data of adult patients treated in the SHIVA01 clinical trial. The aim of this study was to evaluate the utility of DDA in pediatric oncology. Methods Between 2017 and 2020, 103 high-risk pediatric cancer patients (< 21 years) were involved in our precision oncology program, and samples from 100 patients were eligible for further analysis. Tissue or blood samples were analyzed by whole-exome (WES) or targeted panel sequencing and other m...
<p>Results that reached the significance threshold (p≤ 0.05 in univariate and FDR(α) = 5%; ... more <p>Results that reached the significance threshold (p≤ 0.05 in univariate and FDR(α) = 5%; p≤ 6.76E-03 in multivariate analysis) are in bold.</p><p>* ref. refers to the reference group to which the others groups are to be compared</p><p>** on standard and medium risk arm</p><p>Differences between subgroups in <i>E</i>. <i>coli</i>-ASP hypersensitivity.</p
<p>(A) In case of rs2055083 the cumulative incidence of <i>E</i>. <i>coli... more <p>(A) In case of rs2055083 the cumulative incidence of <i>E</i>. <i>coli</i>-ASP by the end of the of the second block on MR arm was 34% (84 out of 244) and 11% (6 out of 55) for patients with GG and AA/AG genotypes, respectively. (B) In case of rs707176 the same value was 48% (14 out of 29) and 27% (71 out of 264) for patients with CC and CT/TT genotypes, respectively. (C) Analysing T-ALL patients on MR arm the cumulative incidence of <i>E</i>. <i>coli</i>-ASP hypersensitivity by the end of the of the second block was 60% (12 out of 20) and 10% (3 out of 30) for patients with GG and AA/AG genotypes, respectively.</p
<p>Results that reached the significance threshold (FDR(α) = 5%; p≤ 6.76E-03) are in bold.&... more <p>Results that reached the significance threshold (FDR(α) = 5%; p≤ 6.76E-03) are in bold.</p><p>Associations of rs2055083 with the occurrence of <i>E</i>. <i>coli</i>-ASP hypersensitivity in the total cohort and in different risk groups.</p
<p>Results that reached the significance threshold (FDR(α) = 5%; p≤ 6.76E-03) are in bold.&... more <p>Results that reached the significance threshold (FDR(α) = 5%; p≤ 6.76E-03) are in bold.</p><p><sup>a</sup> the cofactor of ASP dosage during induction was not included in the analysis due to numerical problems of the logistic regression model created by the presence of cell values equal to zero.</p><p><sup>b</sup> not analysed due to the presence of cell values equal to zero.</p><p>Associations of rs707176 with the occurrence of E. coli-ASP hypersensitivity in subgroups created by risk category and gender.</p
INTRODUCTION: There is an impressing development of genetics in preventive pediatric hematooncolo... more INTRODUCTION: There is an impressing development of genetics in preventive pediatric hematooncology. Cytosine arabinoside (1--D-arabinofuranosylcytosine, ara-C, cytarabine) is one of the chemotherapeutical agents used in the treatment of pediatric acute lymphoblastic leukemia (ALL). Adverse drug reactions (ADR) of ara-C are considerable and generate difficulties during chemotherapy. Single nucleotide polymorphisms (SNPs) can play a significant role in modifying nucleoside-drug pharmacokinetics and pharmacodynamics and thus the development of interpatient variability in sensitivity and toxicities to ara-C adverse effects. Rothmund-Thomson syndrome (RTS) is a rare genetic disease with characteristic bone and skin findings. Cells from patients with RTS demonstrate genomic instability, mutations in RECQL4 gene with susceptibility to osteosarcoma and skin cancers. Rubinstein-Taybi syndrome (RSTS) is an infrequent condition characterized by a specific pattern of physical features and developmental disabilities. Damage to CREBBP gene and EP300 gene have been detected in the background of the disease. OBJECTIVE: 1. To determine whether polymorphisms in genes coding transporters and enzymes are responsible for the metabolism of ara-C are associated with toxicity and clinical outcome in our childhood ALL patient population. 2. To indentificate genetic background of the RTS patient to confirm diagnosis and give more precise prognosis. 3. To present the RTS and RSTS and draw attention to the importance of proper diagnosis and followup of genetic diseases disposed to malignancies in order to achieve better management and outcome of these disorders. PATIENT AND METHODS: We studied 8 SNPs in the CDA, DCK, DCTD, SLC28A3 and SLC29A1 genes in 144 childhood acute lymphoblastic leukemia patients treated according to ALL-BFM 1990 and1995 and ALL IC-BFM 2002 protocols. Case-studies: 1. A girl, diagnosed with RTS soon after birth, developed cutan lymphoma at her age three. 2. A boy, diagnosed with at his age four, developed medulloblastoma at his age ten. RESULTS: DCK rs12648166 and DCK rs4694362 SNPs were associated with altered risk to leukopenia at the allele, genotype and haplotype levels. Case 1. We presented a case of Rothmund-Thomson syndrome associated with aggressive biphenotype, biclonal EBVassociated cutan lymphoma first in the literature and the lymphoma risk existence at the early age of three in conjunction with RTS. Insufficient checkups and lack of essential sunprotection may have played a role in her premature death. Case 2. Due to proper follow-up an early diagnosis and successful treatment of the RSTS patient's brain tumor happened. We indentified a novel CREBBP variant confirming the exact diagnosis. CONCLUSIONS: 1. With the knowledge of genetic background of toxicity, individualized chemotherapy based on genetic profiling may help to optimize ara-C dosing, leading to reduced toxicity. 2. We presented, that bi-phenotype bi-genotype EBV-associated cutan lymphoma can be associated with RTS. We also presented, that lymphoma can arise at an early age of three in RTS. 3. Regarding to the formation of brain tumor of our patient, the newly identified CREBBP variant contributes to the growing database of possible predisposing mutations. 4. In case of hereditary syndromes prone to malignancies exact diagnosis helps to do predictive medicine: to give proper treatment and follow-up, lower cancer risk, improve outcome and help family-planning. With presenting two instructive disease-history and thinkover the diagnosis and management of rare cancer predisposition malignancies we may ministrative for other practitioners with patients suffering from the same syndromes.
PloS one, 2015
L-asparaginase (ASP) is a key element in the treatment of paediatric acute lymphoblastic leukaemi... more L-asparaginase (ASP) is a key element in the treatment of paediatric acute lymphoblastic leukaemia (ALL). However, hypersensitivity reactions (HSRs) to ASP are major challenges in paediatric patients. Our aim was to investigate genetic variants that may influence the risk to Escherichia coli-derived ASP hypersensitivity. Sample and clinical data collection was carried out from 576 paediatric ALL patients who were treated according to protocols from the Berlin-Frankfurt-Münster Study Group. A total of 20 single nucleotide polymorphisms (SNPs) in GRIA1 and GALNT10 genes were genotyped. Patients with GRIA1 rs4958351 AA/AG genotype showed significantly reduced risk to ASP hypersensitivity compared to patients with GG genotype in the T-cell ALL subgroup (OR = 0.05 (0.01-0.26); p = 4.70E-04), while no such association was found in pre-B-cell ALL. In the medium risk group two SNPs of GRIA1 (rs2055083 and rs707176) were associated significantly with the occurrence of ASP hypersensitivity (O...
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Papers by Krisztina Míta Gábor