Clinical Neuroscience

Biologie moléculaire du neuroblastome

JEAN Bénard1

NOVEMBER 20, 1997

Clinical Neuroscience - 1997;50(11-12)

Plusieurs anomalies génétiques ont été découvertes dans le neuroblastome: une délètion du bras court du chromosome 1, une amplification de l'oncogène N- myc et une absence d'expression du gène CD44. Ces altérations ont une valeur pronostique dans les formes localisées de la maladie et permettent d'améliorer le traitment: intensifier la chimiotpérapie pour les formes agressives, diminuer au contraire ce traitement pour les formes non agressives.


  1. Unité des Marqueurs Génétiques des Cancers, Institut Gustave Roussy, Villejuif France



Further articles in this publication

Clinical Neuroscience

[Antecendents and epilepsy in dyskinetic/dystonic cerebral palsy]

BALOGH Erzsébet, KOZMA Gyuláné, VARGÁNÉ Kiss Anna

[The rate of cerebral palsy (1-3/1000) is not diminishing, but the prevalence of athetosis seems to be decreasing. 234 athetosis cases (born 1972–1992) have been studied in Budapest (n=149) and in London (n=85) for birth weight, icterus, hypoxia and/or neonatal convulsion and epilepsy. The majority of athetosis cases were born with a birth weight above 2500 g. Kernicterus has not been found, but 43.3% (Budapest) and 75.3% (London) of the cases showed clinical signs of hypoxia with or without perinatal convulsion. Hypoxia and icterus were rarely found together. Athetosis with epilepsy occurred in one fourth and one third of the cases, respectively. Long term hypoxia of mature infants has to see the most relevant risk factor for the severe cerebral palsy with (29.5% Budapest, 23.5% London) and without epilepsy.]

Clinical Neuroscience

[Advances in the diagnostics of spinal muscular atrophy]


[The three most common types of childhood spinal muscular atrophy (SMA) are type I or Werdnig Hoffmann disease, type II or intermediate form, and type III or Kugelberg-Welander disease. The clinical features of these three types are characteristic, profound limb hypotonia, wasting of muscles and areflexia. All three forms of SMA reveal an autosomal recessive mode of inheritance. The gene responsible for all three types of SMA is located on the long arm of chromosome 5 in the region of 5q11.2-913.3. Starting from 1993 blood samples were collected from 87 Hungarian families with all 3 types of SMA. DNA samples of all family members were analysed with the currently available highly informative microsatellite DNA markers in the locus 5q11.2 q13.3. Moreover, affected persons and their family members have been analysed for deletions of the survival of motor neuron gen (SMN). Prenatal diagnoses were performed in 28 cases at the request of the affected families. The possibility of prenatal diagnosis is a major step forward in helping these families, as the risk of recurrence of this devasting, untreatable disease is 25% in affected families.]

Clinical Neuroscience

[Prognosis of newborns of very low birthweight]

BEKE Anna, FEHÉRNÉ Szekszárdi Márta, CSIKY Erzsébet, KUCSERÁNÉ Gráf Rózsa, NÉMETH Tünde, SZABÓ Györgyné

[Development of 357 ventilated newborns born from January 1989 to 30 September 1996, who weighed 1500 gm or less at birth, was investigated in follow-up studies. Of the 357 infants, 9 died after one month of age. The outcome of 348 survivors was followed up by a team after the same protocol. Infants were divided into two groups according to year of birth. In the first four-year group, there were 168 children (from 1989 to 1992), in the second one there were 180 children (from 1993-1996). The two periods are different in the obstetrical and neonatological therapeutic methods. Comparing the results of follow-up studies, the authors investigated the influence of the new therapeutic methods on the neonatal morbidity and prognosis of newborns of very-low birthweigt. Although the survival rate increased from 61% to 78% between the two four-year periods, and the survival rate of newborns of very very low birth weight became two times higher (from 19.8% to 41 %), the neurological morbidity (rate of cerebral palsy), did not changed essentially. Important improvement was found in the ophthalmological outcome. The conclusion is that the quality of life for infants and children born of very-low birthweight has not yet improve significantly in every area of development.]

Clinical Neuroscience

[99 M TC HMPAO SPECT in children with intractable epilepsy]

NEUWIRTH Magdolna, BORBÉLY Katalin, KOPCSÁNYI Zsuzsanna

[We examined the role of HMPAO SPECT examinations in presurgical evaluation of children with intractable partial epilepsy. SPECT studies (ictal, interictal) were performed on 31 children aged 1-18 years. The focus was restricted in 18 cases and extensive, ie, a whole hemisphere or some lobes, in 4 cases. SPECT indicated pathological changes in the relevant areas in 15 of 18 cases, but in 9 children with temporal epilepsy in all. The focus was extensive in 4 cases, e.g. in 3 children with Rasmussen syndrome. SPECT was pathologic in all of them when MRI did not yet show hemiatrophy of the brain. In 3 cases of partial epilepsy MRI did not demonstrate lesion, the focus was not well-defined by EEG, in contrast to SPECT. Thus it can be stated that SPECT provides valuable information on presurgical evaluation in children with intractable partial epilepsy.]

Clinical Neuroscience

[Comparative study of digital subtraction angiography and MR-angiography in ischemic stroke of children]


[A report is given on 10 children suffering from ischemic stroke. In all children the ischemic lesions were confirmed by CT scans. The patients underwent both Digital Subtraction Angiography (DSA) and MRA. In five cases of stenotic or occlusive changes the MRA correlated well with DSA findings. However 3 cases of moyamoya disease, 1 case of arterial spasm and 1 case of stenotic change were not shown on MRA. MRA can be a valuable alternative method to DSA in occlusion of major intracerebral arteries.]

All articles in the issue

Related contents

Lege Artis Medicinae

[The significance of interleuktin-6, it's molecular regulation in acute phase reaction]

FALUS András, BÍRÓ Judit, RÁKÁSZ Éva

[The multiple effectiveness of a hormone-like cytokine, interleukin-6 (IL-6) is highly important in a series of immunological, neuroendocrinological and inflammatory reactions of the mammalian organism. In this review a complex view of the gene and its regulation of IL-6 and the significance of the cytokine network in acute phase reaction is discussed. Manipulation of this complex network studied by the methodology of molecular biology and genetics provides entirely new approaches for the biotechnological and pharmacological regulation of inflammation.]

Clinical Oncology

[The role of EGFR receptor family in the oncological practice]


[The EGFR receptor family is a set of membrane tirosine kinase receptors with signifi cant homology which are responsible for cellular activation through intracellular signaling due to ligand binding. The four members of the family (EGFR1, EGFR2/HER2/neu, EGFR3/HER3, EGFR4/HER4) earned special interest in tumor biology while becoming one of the most potent targets of anti-cancer therapies. Changes in the receptor expression or in the kinase activity fundamentally modify cellular functions, survival and tumorigenic potential. Moreover, mutations are associated with reduced or altered treatment effi cacy. The basic function and major genetic and biological mechanisms affecting the function of EGFR receptors and related therapies are subjects of this overview.]