We have recently studied a kindred in which there have been 2 proven and 2 probable cases of medullary thyroid carcinoma without pheochromocytoma, hyperparathyroidism or Cushing's disease. Four other members suffered from intestinal occlusion and death occurred in three of them. The family has been traced through 4 generations (80 members) and 47 members could be examined; circulating calcitonin and carcinoembryonic antigen levels were measured. This study leads to two conclusions: 1) Medullary thyroid carcinoma is transmitted as an autosomal dominant trait with a high degree of penetrance. 2) Carcinoembryonic antigen is a valuable tumour marker particularly if no calcitonin radioimmunoassay is avialable for the diagnosis of M.C.T.

The discovery of multiple polypi in a small child does not necessarily indicate that this is a case of familial adenomatosis. Two cases of juvenile polyposis were confirmed by histological examinations, and their clinical and, more particularly, their radiological characteristics were studied. The only way to explore the full extent of the lesions in a satisfactory manner is by double-contrast examination of the whole colon. The authors stress the value of radiological examinations, though the frequency with which they should be carried out is open to discussion. Review of the published literature reveals that the association of true familial polyposis or adenocarcinomatosis exists in the same family or even in the same patient. Diagnostic difficulties are usually due to the fortuitons co-existence of a lymphoid hyperplasia, the significance of which is still not known.

Most of cutaneous hereditary diseases are associated with digestive symptoms but only four groups have a predominated digestive symptomatology: I. Hereditary disease with intestinal polyposis. II. Vascular dysplasias with intestinal haemorrhage. III. Connective tissue discover in hereditary diseases. IV. Acrodermatitis enteropathica with diarrhoea. Though very different with one another, Peutz-Jeghers syndrome and Gardner's syndrome are transmitted according to autosomal dominant trait. Only bi- or unigenic origin is still controversed. Rendu-Osler's disease and blue rubber bled naevus also transmit according to autosomal dominant trait. Pseudoxanthoma elasticum is very likely transmitted according to autosomal recessivity. But the main forms of Ehlers-Danlos disease are autosomal dominant conditions, the other form being either autosomal recessive or sex-linked (type V). Acrodermatitis enteropathica is transmitted according to autosomal recessivity but the gene has a very variable penetrance so that the mutations are very common.

The study of potential associations between genetic markers and various diseases is an important approach in epidemiology. With such studies it is possible to reveal an hereditary component for multifactorial diseases. There are three kinds of analyses: --comparisons of the frequency of the marker in patients and in a control group; --investigations of genetic markers in families with high incidence of disease; --studies of geographical clines between the incidence of the disease and the marker frequency. The interpretation of such geographical associations is difficult. These associations can be the reflect of the migration of susceptibility genes with genetic markers. The HLA system is the better for this kind of approach.

Seven acute promyelocytic leukemias (APL) were compared with three atypical acute myeloblastic leukemias (AML). These three AML were characterized by high hyperleukocytosis, mostly formed of monocytelike myeloblasts, disseminated intravascular coagulation syndrome, and a t (15;17) translocation in the majority of leukemic cell mitoses. This translocation was inconsistently found in typical APL defined as M3, according to the FAB classification.

The third case of Cowden's disease to be discovered in France is reported. The authors emphasize the means for the diagnosis of multiple hamartomata, the typical symptoms and signs in the case reported, and that the family history included a daughter aged 8 years with macrocephaly, and slight mental retardation, who had already been operated upon twice for tonsillectomy.

Described by Lloyd and Dennis in 1963, Cowden's disease is a familial affection in which are found associated lesions of the buccopharyngeal mucosa (papillomatosis, papules, scrotal tongue), various types of skin lesions (verruciform keratotic papules, papilloma, lipoma, angioma, etc...), visceral manifestations usually related to lesions in the thyroid, breasts, or digestive tract (hamartoma or malignant tumors), and skeletal dysmorphism. The two patients were from different families, were aged 65 and 28 years, and had presented for consultation because of buccal mucous membrane papillomatosis, and in one case, hemorrhagic gingivitis. Cowden's disease was diagnosed from the clinical examination, past history, and investigations after hospital admission. The main value of the mucosal and cutaneous lesions is their diagnostic significance, enabling a synthesis of the multiple dispersed manifestations to be made, and a possible visceral tumor to be discovered in the early stages.

Twenty-four patients, in a condition considered to be pre-leukaemic underwent study of marrow caryotype. Nine of them (37.5%) had an abnormal caryotype. The prevalence of abnormalities varied according to the type of pre-leukaemic state: 17% in acquired idiopathic sideroblastic anaemia, 33% in refractory anaemias with excessive myeloblasts, 100% in 3 cases of simple refractory anaemia. The abnormalities were non-systematised. However, in one case there was an abnormality already described in the literature and considered to be specific: deletion of the long branch of chromosome 5. In refractory anaemias with excess myeloblasts transformation to acute leukaemia appeared to be more frequent in patients with an abnormality (4/5) than in patients with a normal caryotype (0/10).

A study was made of 9 cases of left atrial myxoma with emphasis on the echocardiographic, haemodynamic and anatomical aspects and on the main clinical features. An epidemiological enquiry was made regarding the possibility of recurrences or familial cases. It was negative, suggesting that such cases are rare. The echocardiographic signs of left atrial myxoma are inconstant. The mitral diastolic EF slope is variable, the delay in appearance of the tumour echo behind the mitral valve in diastole is not constant, and the atrial "a" wave may be preserved. The echocardiographic features are a function of the size and shape of the myxoma, as well as the length and site of implantation of its pedicle.

A partial monosomy 13 by interstitial deletion was found in the complement of a girl with mild mental retardation and bilateral retinoblastoma. Break points were at 13q12 and 13q14. After comparison with other known observations of retinoblastoma with deletion of chromosome 13, it is suggested that the deletion common to these patients may be band 13q14. The most likely pathogenic hypothesis seems to be the haplo-insufficiency.

The authors report the observation of a 76-year-old man who since 1974 had a persistent anaemia considered as a pre-leukaemic state. The patient was hospitalized in May 1977 with fever and severe asthenia. The laboratory results indicated a probable diagnosis of acute non-differentiated leukaemia of stem cells. In spite of treatment, the anaemia grew worse, the leukocytosis accompanied by blast cells became more pronounced, a massive thrombopenia occurred and the patient died in irreversible shock. Cytogenetic examination done on a medullar culture revealed the presence in all the cells of a chromosome No. 5 with the long arms deleted : 46,XY,5q--. This rare medullar anomaly was reported for the first time in 1974-1975 by the Louvain school (Van den Berghe, Sokal, et al.) in a group of refractory anaemias. It has also been described in association with other chromosomal aberrations, in anaemias or other hemopathies which all developed into acute myeloblastic leukaemia. The clinical evolution and the cytogenetic data of the patient presented here are compared with those of other cases of 5q-- published in the literature, and the significance of this 5q-- chromosome aberration in hemopathies is discussed.

The grounds for treating or not treating chronic lymphocytic leukemias (CLL) and chronic myelocytic leukemias (CML) are discussed in the light of results in recent years. In the case of CLL, objective evaluation of treatment benefits has hitherto been difficult due to the heterogeneity of this group of diseases. A recent classification, based on hematological and clinical parameters and apparently of prognostic value, will undoubtedly help to clarify the therapeutic problem. In the case of CML, routine chemotherapy programs certainly alleviate the symptoms of the disease but have not so far achieved a significant prolongation of survival.