The authors have studied the different situations that prompt a request for genetic counseling if different members of the same family suffer from cancer. Six possibilities are considered: the cancer concerned is a genetic disease per se (e.g. retinoblastoma, thyroid cancer with amyloid stroma); the genetic disease is often complicated with cancer (e.g. intestinal polyposis); the genetic disease is occasionally complicated with cancer (e.g. neurofibromatosis); cancer is part and parcel of the genetic disease (e.g. chromosomal abnormalities); in addition, there are two special situations: "cancer-prone families" and families who request genetic counseling after one single case (e.g. cancer of leukaemia in a child).

The Philadelphia chromosome (Ph) is an abbreviated chromosome number 22 resulting, in the majority of cases, from a balanced translocation between the 9 and 22 long arms. It is considered a marker of chronic myeloid leukemia and its diagnostic and prognostic value in this disease has been demonstrated. It is also present in a number of patients with acute leukemias of poor prognosis. The Ph arises in a bone marrow progenitor cell and seems to allow the clonal expansion of the malignant cells. The typical 9;22 translocation results in the transposition of the cellular oncogene Abelson in close proximity of chromosome 22 linked critical sequences. This structural change leads to the transcription of an hybrid mRNA coding for an abnormal protein with a tyrosine kinase activity which could play a major role in the leukemogenesis process.

HLA A, B, C, typing have been done in 39 patients with clinically and histologically documented classical Kaposi's sarcoma. Thirty three were also typed for HLA DR antigens. Twenty seven were males, 12 were females and three ethnic groups were represented: european caucasoids 41%, north african caucasoids 38.5% and negroids 20.5%. The only statistically significant abnormality is an increase of HLA DR5 frequency (60.6 vs 26. p less than 0.001 et RR = 4.2). Such an increase has been evidenced also in AIDS patients, with or without Kaposi's sarcoma and then is not discriminant between all this different types of the disease.

The study of class I and class II antigen expression on leukemic cells brought the following conclusions: most of the leukemic cells show a slower number of class I antigenic sites than normal peripheral blood lymphocytes (PBL) but, in most cases, this does not hinder HLA typing; contrarily to normal PBL, leukemic cells seem to carry "non HLA" antigens (and/or non classical HLA antigens) which are probably responsible of the false positive reactions frequently observed at the time of HLA typing; most of the leukemic cell types express DR antigens (except those belonging to the T lineage) but DQ antigen expression (and in some cases MT antigen expression) varies depending on the cell type studied: well defined on mature B hemopathies, DQ expression is often lower than DR expression on acute leukemic cell types.

The relationship of genes of the HLA system with leukemogenesis has been controversial for many years. However HLA antigens such as A2, B12 and DR7, have been found associated with prolonged survival in patients with acute leukemia. Recent studies have also shown an excess of shared HLA antigens (especially DR) among the parents of patients with acute leukemia. This phenomenon may possibly reflect the expression in patients of recessive immune response genes linked to the HLA complex; the role of such immune response genes in susceptibility or resistance to virus-induced leukemia has clearly been established in mice.

Report of a bilateral carotid body tumor in a female. Six members of her family also present the same disease. Epidemiology and surgical tactics are discussed. Special attention is focused on the pathogenetic mechanisms.

A case of neonatal hypertrophic cardiomyopathy (HCM) without obstruction is reported. Von Recklinghausen neurofibromatosis in the mother and several relatives and the occurrence of café-au-lait spots in the child at 6 weeks of life led to the association of HCM with this phacomatosis. The spontaneous regression of the myocardial hypertrophy after 6 weeks makes this first report of neonatal HCM in the course of Von Recklinghausen neurofibromatosis peculiar. Several reports in the literature mention the possibility of such a spontaneous regression of HCM or diffuse cardiac tumors, especially in the course of phacomatosis.

Whilst investigating 26 members of the same family, we discovered 5 cases of multiple endocrine neoplasia type II a. The present report demonstrates the diagnostic value of basal plasma thyrocalcitonin (TCT) assays, before and after stimulation with pentagastrin, and of plasma carcinoembryonic antigen (CEA) assays. Some of the clinical features encountered were novel--e.g. in one patient the phaeochromocytoma was revealed by a haemothorax with cardiovascular collapse--and others were peculiar; thus, in 4 cases the medullary thyroid carcinoma (MTC) was less than 2 cm in diameter and without lymph node or visceral metastases, even in patients aged 87, 59 and 56. More classically, MTC, always multifocal, was clinically silent, as were the two cases of phaeochromocytoma and hyperparathyroidism. Phaeochromocytomas were difficult to diagnose. Ultrasonic tomography did not prove very helpful and the disease was transmitted as an autosomal dominant trait. Finally, MTC secreted a variety of substances (TCT, CEA, beta-endorphin, somatostatin), and HLA A2-B15 antigens were found in 3 patients.

Bilateral nephroblastoma may be associated with congenital bilateral aniridia in children. A partial deletion of the short arm of chromosome 11 has been reported in several cases of polymalformation syndrome with associated catalase deficiency. We report one case and review the recent genetic and pathogenic data.

The natural history and prognosis of retinoblastoma were analysed using data from 73 medical records with diagnosis of retinoblastoma registered during 1963-1983 at University Hospital of Kinshasa (Zaïre). Of the 73 cases, 24 children (33%) were bilaterally affected. There were 38 (52%) boys and 35 (48%) girls. Ages at diagnosis ranged from 1/2 year to 6 years with an average age of 2.4 years. The white pupil was the most common initial sign. Many of our patients were severely affected with massive tumor filling the entire eye with vitreous seeding and poor general condition. Because of the more advanced stage of the tumor at time of diagnosis, surgery was the usual form of treatment. Only 5 children in our series showed a long-term survival, longer than 3 years after surgical treatment for retinoblastoma.