Knowledge about genetic alterations occurring in human tumors has dramatically increased following the development of cytogenetic and molecular techniques. Various alterations have been characterized: chromosomal damages, oncogene activations, loss of genetic material. Some of those alterations, such as c-abl rearrangements in certain leukemias, are characteristic of a certain type of malignancy. However, in most tumors, no such correlation has been demonstrated. We review here the genetic alterations discovered in human malignant melanomas.

Tuberous sclerosis or Bourneville's disease is a phakomatosis with common but paucisymptomatic bone localisations. Some osseous lesions, of osteosclerotic type, can be radiologically diagnosed as primary or secondary malignant disorders. We describe a case of Bourneville's disease with bone involvement, radiologically characterized by osteosclerosis areas of the spine and the pelvis. Interestingly, bone scintiscan was normal. The absence of primary malignancy, the stability of control bone X-ray films, the clinical status and the family history, together with the pathognomonic radiological feature of the hands support the diagnosis of tuberous sclerosis with bone involvement.

Diffuse esophageal leiomyomatosis is characterized by diffuse muscular hypertrophy chiefly marked in the lower end of the esophagus looks at a large tumor. It involves the entire length of the esophagus and down to the upper part of the stomach (esogastric leiomyomatosis). Diffuse leiomyomatosis is a extremely rare pathology encountered in children (13 previous report cases) and young adults. Il may be isolated or found in association with other intrathoracic and genital localisations or Alport syndrome (nephropathy, sensorineural deafness, ocular lesions). Extensive leiomyomatosis, engulfing the trachea and stem bronchi, may involve acute respiratory insufficiency. Genital localisations, exclusively in women (clitoral hypertrophy, vulvar leiomyomatosis), in association with esophageal leiomyomatosis, realize the esophago vulvar syndrome. Recently, familial diffuse leiomyomatosis cases were described with, in association, esophageal and extra-esophageal leiomyomatosis and Alport syndrome. The majority of the patients developed esophageal or respiratory symptoms. The radiological appearance is that of a mediastinal tumor or achalasia. CT Scans findings can give evidence diffuse muscular thickening of esophageal wall. Prognosis depends on the associated lesions. In that reports, two young adults (27 and 39 years old) died of inhabitual carcinomas (esophageal and gallbladder carcinoma). The only surgical treatment for symptomatic esogastric leiomyomatosis is subtotal esophagectomy with proximal gastrectomy and esocoloplasty. Myotomy is ineffective (2 cases). Five cases of esophageal leiomyomatosis are described (3 children, 2 young adults). Among these, two are familial leiomyomatosis cases. An esophageal resection was performed in four patients.

Four cases of endocrine tumors of the pancreas and, more generally, of the diffuse endocrine system, are presented here. Included are all the data relative to the inherited character of the disease covering two generations. Two brothers had Zollinger-Ellison syndrome--one of them probably, the other one proven (first case recorded in France). Both patient's only sons are currently treated for endocrine tumor of the pancreas and Zollinger-Ellison syndrome, respectively.

Recently, major advances have resulted from the application of molecular biology to the understanding of central nervous system neoplasia. Schematically, two fundamental mechanisms of tumorigenesis have been described: the activation of oncogenes, and the inactivation of so called recessive "tumor suppressor" genes or "anti-oncogenes". The present report deals with the second mechanism. We discuss its basic concept and techniques, and illustrate it by specifc examples of recent work on brain tumors. The goal of this review is to familiarize Neurosurgeons with the terminology and techniques in this field. Molecular genetics suggest that cancer is a molecular disease which involves regulator genes. These play a major role in growth control, differentiation, and physiology. In the near future molecular biology may identify the structure of proteins coded by suppressor genes, possibly allowing a better tumor classification creating a new "genetic therapy", based on a better comprehension of the role of these genes in dividing and differentiating cells.

Recent developments in molecular oncology have permitted the definition of alterations in proto-oncogenes (ras, myc, neu and hst/int.2) and anti-oncogenes (Rb.1) in human breast carcinomas. Detection of these abnormalities could be of prognostic interest. However, this remains controversial.

Having seen a personal case and having reviewed the literature, we clarify the details when neurofibromatosis and pregnancy occur together. Few cases of this combination of conditions have been reported. The complications can be serious and have led some authors to suggest that the pregnancy should be terminated in every case and that the patient should be sterilised. Sometimes the only risk is hypertension of pregnancy, which is what occurred in our case. Its progress was benign and according to the literature this seems to be the most usual outcome. All the same, because it is possible that complications can occur in any case of neurofibromatosis in pregnancy, pregnant women with neurofibromatosis should be placed in a high-risk group which has to be watched very carefully.

Three new cases of monosomy 7 are described. Two children, before onset of overt leukemia, had a preleukemic state: one with thrombopathy and myelodysplastic syndrome, the other with a moderate splenomegaly and an absolute monocytosis. In these two cases the leukemia was chemoresistant. The last child had a subacute myelomonocytic syndrome (juvenile type of chronic myelogenous leukemia) without high fetal hemoglobin value. She died from cachexia. The poor prognosis of monosomy 7 is underlined and such a chromosome deletion should be searched in myeloproliferative syndrome with monocytosis.

In this paper we describe the sister chromatid exchange (SCE) frequency and the cell-cycle kinetics in lymphocytes of peripheral blood from 51 untreated patients with colonic tumors: 30 with adenomas (A) (17 tubular, 6 tubulovillous and 7 villous) and 21 with carcinomas (C) (4 in situ and 17 invasive). SCE frequencies expressed as M +/- SD were 7.1 +/- 0.2 in A, 6.9 +/- 0.3 in C and 8.7 +/- 0.2 in controls. No differences were seen between the A and C frequencies and both values were significantly less than the control SCE frequencies (p less than 0.01). A lower SCE was observed in these patients especially in chromosomes 1 and 2 and groups B and D with respect to controls (p less than 0.01). The cell cycle kinetics of adenomas and carcinomas presented an elongation of the cell cycle time with reference to the controls (p less than 0.01). Replication indexes (RI) showed the following values: 1.8 +/- 0.06 in A, 1.8 +/- 0.08 in C and 2.1 +/- 0.05 in controls. The patients' values were significantly different from the controls (p less than 0.01). From the cytogenetic viewpoint, the similar behavior in SCE frequencies and cytokinetics found in adenoma and colon carcinoma suggest that adenoma is a preneoplastic lesion.