Abstract:
:Central nervous system (CNS) tumors account for the highest mortality among pediatric malignancies. Accurate diagnosis is essential for optimal clinical management. The increasing use of molecular diagnostics has opened up novel possibilities for more precise classification of CNS tumors. We here report a single-institutional collection of pediatric CNS tumor cases that underwent a refinement or a change of diagnosis after completion of molecular analysis that affected clinical decision-making including the application of molecularly informed targeted therapies. 13 pediatric CNS tumors were analyzed by conventional histology, immunohistochemistry, and molecular diagnostics including DNA methylation profiling in 12 cases, DNA sequencing in 8 cases and RNA sequencing in 3 cases. 3 tumors had a refinement of diagnosis upon molecular testing, and 6 tumors underwent a change of diagnosis. Targeted therapy was initiated in 5 cases. An underlying cancer predisposition syndrome was detected in 5 cases. Although this case series, retrospective and not population based, has its limitations, insight can be gained regarding precision of diagnosis and clinical management of the patients in selected cases. Accuracy of diagnosis was improved in the cases presented here by the addition of molecular diagnostics, impacting clinical management of affected patients, both in the first-line as well as in the follow-up setting. This additional information may support the clinical decision making in the treatment of challenging pediatric CNS tumors. Prospective testing of the clinical value of molecular diagnostics is currently underway. :Die höchsten Mortalitätsraten pädiatrischer Krebserkrankungen sind durch Tumore des zentralen Nervensystems (ZNS) bedingt. Eine präzise Diagnose ist essentiell für eine optimale Behandlung. Durch die zunehmende Verwendung molekularer Diagnostik ergeben sich neue Möglichkeiten der präzisen Klassifizierung von ZNS-Tumoren. Hier berichten wir über eine Fallserie pädiatrischer ZNS-Tumore, deren Diagnose durch molekulare Diagnostik präzisiert oder geändert wurde, mit Einfluss auf die klinische Entscheidungsfindung bis hin zur Anwendung molekular informierter Therapien. Es wurden 13 pädiatrische ZNS Tumore mittels konventioneller Histologie, Immunhistochemie und molekularer Diagnostik analysiert, inklusive DNA-Methylierungsprofil in 12 Fällen, DNA-Sequenzierung in acht Fällen und RNA-Sequenzierung in 3 Fällen. Nach erfolgten molekularen Analysen wurde bei 3 Tumoren die Diagnose präzisiert und bei 6 Tumoren die Diagnose geändert. Eine gezielte Therapie wurde in 5 Fällen eingeleitet. Ein zugrundeliegendes Tumorprädispositionssyndrom wurde in 5 Fällen detektiert. Da diese Fallserie retrospektiver Natur und nicht bevölkerungsbezogen ist, ist die Aussagekraft insgesamt limitiert. Dennoch können wertvolle Einsichten bezüglich präziser Diagnosestellung und daraus folgendem klinischen Management in Einzelfällen gewonnen werden. Die Genauigkeit der Diagnose wurde in den hier vorgestellten Fällen verbessert, mit Einfluss auf das klinische Management der betroffenen Patienten bei Initialtherapie als auch in der Nachsorge. Diese zusätzliche Information kann die klinische Entscheidungsfindung in der Behandlung komplexer pädiatrischer ZNS Tumore unterstützen. Der klinische Nutzen molekularer Diagnostik wird aktuell in Studien geprüft.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Bächli H,Ecker J,van Tilburg C,Sturm D,Selt F,Sahm F,Koelsche C,Grund K,Sutter C,Pietsch T,Witt H,Herold-Mende C,von Deimling A,Jones D,Pfister S,Witt O,Milde Tdoi
10.1055/a-0637-9653subject
Has Abstractpub_date
2018-10-01 00:00:00pages
305-313issue
6eissn
0300-8630issn
1439-3824journal_volume
230pub_type
杂志文章abstract::The present paper reports on a striking increase in undesirable drug induced reactions during simultaneous administration of high-dosage phenobarbital and beta-lactam antibiotics to children in intensive care. In a 30-month study period, reactions which had to be classified as drug-induced were seen in 24 out of a tot...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025555
更新日期:1990-11-01 00:00:00
abstract::In children with primary immunodeficiencies, the onset of symptoms precedes the diagnosis and the initiation of appropriate treatment by months or years. This delay in diagnosis is due to the fact that while these disorders are rare, some of the infections seen in immunodeficient patients are common. Defective antibod...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1354415
更新日期:2013-11-01 00:00:00
abstract::The case is described of a 6 months old infant who developed purulent pericarditis during the course of pneumonia. Pericarditis probably developed in this condition by contiguous spread from the pleura. Diagnosis of impending cardiac tamponade was masked by the occurrence of massive unilateral empyema. The management ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033831
更新日期:1982-09-01 00:00:00
abstract::The influence of a single intravenous infusion of triglycerides (1 g triglyceride per kg body weight) on the acid base equilibrium was investigated in 16 newborn infants with low birth weight during the first days of age. No changes of pH, PCO2 and standard bicarbonate, base excess, buffer base and actuelle bicarbonat...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-09-01 00:00:00
abstract::The article describes the method of counter-current immunoelectrophoresis as a rapid and safe technique for the identification of bacterial antigens in body fluids. This technique has proved very useful especially in patients who had been pretreated with antibiotics, since the culture yields are usually negative in su...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034426
更新日期:1981-01-01 00:00:00
abstract::Short presentation of the common procedures to avoid transmission of human-immunodeficiency-virus (HIV) by hemoderivates especially clotting-factor-preparations. The stepwise seroconversion (ELISA, IFT, Western-blot) of HIV is shown in a 7 5/12 ys old boy with hemophilia A after administration of a dry-heated factor V...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033736
更新日期:1988-09-01 00:00:00
abstract::In 25 very low birth weight infants appropriate for gestational age the influences of different human milk (HM) preparations on weight gain, gross indices of nitrogen metabolism and energy balance were studied during the second month of postnatal life. HM was fortified either by HM-protein (HMP) or by an enzymatic mea...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025538
更新日期:1990-09-01 00:00:00
abstract:BACKGROUND:Anticonvulsants require special consideration particularly at the interface from hospital to ambulatory care. PATIENTS AND METHOD:Observational study for 6 months with prospectively enrolled consecutive patients in a neuropediatric ward of a university hospital (age 0-<18 years) with long-term therapy of at...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1345174
更新日期:2013-09-01 00:00:00
abstract::Positive anti-DNA-antibodies and lowered C3 and C4 levels were found in serum of a 13 year old girl presenting with edema, microscopic hematuria and proteinuria. Renal biopsy revealed diffuse endo- and extracapillary glomerulonephritis with mesangial deposits of IgA, IgG, IgM, C1q, C3 and fibrinogen. In spite of treat...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034411
更新日期:1983-11-01 00:00:00
abstract::The article reports on a case of visceral leishmaniasis in a 3-year-old child of German residents in Rome who had passed two vacations on the isle of Ischia. Initial signs were intermittent temperatures, marked anorexia, hepatosplenomegaly and pancytopenia, with spontaneous recovery after three weeks. At that time, le...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract:OBJECTIVE:To identify obstetric and neonatal risk factors associated with the development of germinal matrix-intraventricular hemorrhage (GM-IVH) in high-risk preterm neonates. METHODS AND PATIENTS:Data from 279 preterm infants (246 mothers) with a gestational age≤28+0 weeks admitted to our NICU between January 2004 a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0042-111689
更新日期:2016-09-01 00:00:00
abstract::Familial glucocortivoid insufficiency--also called hereditary lack of response of the adrenals to ACTH-has not yet been described in Europe. Isolated glucocorticoid insufficiency combined with intact secretion of aldosterone and high plasma level of ACTH are characteristic. The diagnostic difficulties are demonstrated...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-05-01 00:00:00
abstract::Infants exposed to opiates antenatally display withdrawal symptoms after birth referred to as neonatal abstinence syndrome (NAS).A total of 366 newborns (166 females, 10 twins) from 361 mothers were diagnosed with NAS from 2000 to 2011 at a single large metropolitan referral center.Retrospective chart review of all ne...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0042-115300
更新日期:2017-01-01 00:00:00
abstract::Serum IgA deficiency was first noted in a 10 year old boy 8 months after the onset of D-penicillamine therapy. Special immunological examinations revealed a deficiency of the secretory component of IgA while cellular functions of T- and B-lymphocytes were normal. The patient showed discrete clinical signs compatible w...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025560
更新日期:1990-11-01 00:00:00
abstract:BACKGROUND:It has been shown that Interleukin 10 (IL-10) is able to inhibit alloreactivity in a mixed lymphocyte culture. Therefore, here IL-10 production in patients after allogeneic BMT was investigated and correlated with the incidence of acute GvHD. PATIENTS:14 patients after allogeneic BMT have been investigated....
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046464
更新日期:1996-07-01 00:00:00
abstract::Mucoid impaction and plastic bronchitis are relatively rare disorders affecting patients of any age. Here we report the case of mucoid impaction developing in a four-year-old child as a complication of pneumonic infection treated four weeks prior. p.a. chest X-ray and fiberoptic bronchoscopy showed atelectasis and the...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836608
更新日期:2006-03-01 00:00:00
abstract::Initially a right sided pulmonary hypoplasia was diagnosed in our patient at the age of 9 years. The previous years were characterized by recurrent pneumonia, bronchitis and daily coughing fits. Findings of the chest radiograph suggested the diagnosis of right sided hypoplasia. The right hemithorax was small with medi...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025500
更新日期:1990-03-01 00:00:00
abstract::While leadpoisoning has been with mankind since the dawn of civilization, only in recent years this disease was recognized as a serious public health problem. It has been estimated that more than half a million children are suffering from lead intoxication in the U.S.A. In most instances this disease is caused by eati...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-09-01 00:00:00
abstract::We report on a phenotypically male newborn with 45,X/46,X,dic(Y)-mosaicism. Right-sided inguinal hernia was surgically corrected. Histological examination of the tissue revealed an ambiguously differentiated gonad on this side. The clinical, cytogenetic, and histological results are described and the prognosis and cli...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-832335
更新日期:2005-09-01 00:00:00
abstract::An increasing number of children suffering from cancer has been treated successfully during the last 25 years using therapy protocols of the Gesellschaft für Pädiatrische Onkologie und Hämatologie. The patients had to undergo an interdisciplinary treatment modality and a mostly intensive chemotherapy. Late effects cou...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046537
更新日期:1995-07-01 00:00:00
abstract::Doxorubicin serum levels were measured with a highly specific reversed-phase HPLC-method in patients undergoing combination chemotherapy. Serum elimination kinetics of doxorubicin follow a bi- or triphasic first order pattern with a high interpatient variability. T 1/2 of the first distribution phase was 5.4 min. T 1/...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2008-1026889
更新日期:1986-05-01 00:00:00
abstract::The clinical significance of colloid osmotic pressure (COP) in transcapillary fluid exchange and water homeostasis in health and disease is described. Under pathophysiological circumstances measurement of COP should be preferred to COP value calculation. After extensive COP experiences in critically ill adults and num...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034010
更新日期:1985-09-01 00:00:00
abstract:BACKGROUND:Late effects become progressively more important for the evaluation of therapeutic success in paediatric oncology. Thus, in 1998, the Late Effects Surveillance System (LESS) started to register and assess multicentrally, prospectively and longitudinally late effects of treatment for the group of Ewing's, sof...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836503
更新日期:2005-05-01 00:00:00
abstract::A boy aged 4 years and 3 months with Klippel-Trénaunay syndrome showed a vein the thickness of a finger running suprapubicly. When he was standing it was filled tightly. Angiography showed agenesis of the right common femoral vein. Reflux from the right leg passed through this vein to the left common femoral vein. On ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-07-01 00:00:00
abstract::The long term follow up of 55 children with allergy treated by specific hyposensitization therapy is reported. Hyposensitization therapy had been terminated from 2--7 years previously. The success of treatment was subjectively judged to be satisfactory of good in 62% of the cases. In the group of asthmatic children, a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-11-01 00:00:00
abstract::The diagnosis of HFI is easily missed during childhood. It should be suspected in children presenting with hepatomegaly and an isolated increase in GGT. A carefully taken nutritional history forms the basis of the diagnosis of HFI which can be confirmed by molecular analysis with a sensitivity of > 95%. I.v. fructose ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract:BACKGROUND:Hypoallergenic infant formulas (HAF) were developed for atopy prevention in infants with high risk of atopy if these cannot be breastfed. HAF mount an antigen-specific immune response in infants. The aim of the study was to analyse the immune response in infants fed with a new infant formula based on a whey ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2003-42664
更新日期:2003-09-01 00:00:00
abstract::Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as t...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0042-124187
更新日期:2017-03-01 00:00:00
abstract::The investigation of Immunoglobulins-and Total protein concentrations in saliva of healthy children shows an agreement with literature, a maturation in individual development of the saliva-producing organs in the mouth. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035623
更新日期:1980-09-01 00:00:00
abstract::Comparison of cytogenetic chimaerism was performed in two children after bone marrow transplantation (bmt) with resp. without T-cell depletion for ANLL. It showed a marked delay of full bone marrow function in the patient with a T-depleted graft. Host type bone marrow cells persisted over many months, whereas they dis...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026783
更新日期:1987-05-01 00:00:00