Two children born to myasthenic mothers presented at birth with severe arthrogryposis, hypotonia and respiratory distress which followed a favourable course. A family history in one of these two cases and in another case reported in the literature raises the problem of a possible recurrence.

Breast cancer has generally environmental causes. However numerous investigations among the families of cancer patients have shown the probable role of a genetic factor in a minority of the cases. Those cases are characterized by the early age of the patient, the multicentricity of the tumour and the frequent association with other neoplasms. Progress in molecular genetics should allow in the next future the discovery in the population of high risk subjects.

72 bladder tumors were studied for nuclear DNA content with flow cytometry. A bimodal DNA profile was present in 33 of them (45%). The following findings concerning the aneuploid second peak of these 33 tumors are remarkable. Aneuploid peak DNA index distribution is discontinuous: there is no peak below 1.5 nor between 2.3 and 2.7. Aneuploid peak importance (second peak cell percentage versus all tumor cells in the same sample) increases when its DNA index decreases from 2.0 to 1.5 = this percentage is on average 45% for a DNA index of 2.0 and increases to 75% when DNA index decreases to 1.5. Aneuploid peak mitotic activity increases when DNA index decreases from 2.0 to 1.5 = the percentage of S G2 M cells of the aneuploid peak is in the range of 15% for a DNA index of 2.0 and in the range of 22% for a DNA index of 1.5. These findings are in favor of a dynamics in bladder cancer natural history. Tumors are supposed to share the same clonal evolution, in 3 stages. First stage: transformed tumor cell DNA profile is unimodal with a DNA index in the region of 1; second stage: due to chromosomic non-dysjunction during mitosis, a second peak appears with a DNA index of 2. Third stage: DNA index of this aneuploid second peak progressively decreases from 2 to 1.5 as a consequence of non vital chromosomes loss by tumor cells. It is suggested that DNA index as defined by flow cytometry does not have an absolute prognostic value per se, but in combination with tumors mitotic activity.(ABSTRACT TRUNCATED AT 250 WORDS)

When ultrasound examination of the upper abdomen detects a liver nodule, the malignancy of this lesion must be discussed. If past history of cancer is known, a benign lesion cannot be excluded. Conversely, if the examination is performed without a history of cancer, we must raise the possibility of a malignant lesion. We attempted to demonstrate that the simple clinical and biological findings allow, if well used, a diagnosis of malignancy or benign nature, rather than performing further investigations, sometimes costly or invasive. We therefore compared three different methods: the well known bayesian diagnostic process; the multivariate analysis using logistic regression model; the Decision Theory, constructing a binary discrimination tree. The three methods lead to approximately the same rate of well classified patients (93 to 95%). Advantages and disadvantages are discussed.

Etiological and epidemiological studies of triploid and hydatidiform molar conceptuses were done using HLA polymorphism. The segregation of HLA markers allowed to know the etiology of 25 triploidies and 19 hydatidiform moles. Five other moles and a post molar choriocarcinoma were also studied by molecular hybridization. This confirms that triploidies in about 3/4 of the cases involved two sets of paternal chromosomes mainly by di-sperm. Hydatidiform moles from Algeria, France and Senegal were all of androgenic origin excepted for one case. DNA analysis of the choriocarcinoma demonstrated the presence of a paternal marker suggesting for this case a direct cellular lineage from the mole. Positive associations with HLA A 28 and B 7 were found which could be related to gametogenesis-fecundation dysfunction. A slight excess of antigens shared by parents of triploidies was shown. This was not observed for parents of hydatidiform moles but when they shared HLA antigens a preferential inheritance in the mole of the shared specificities was observed. This relative compatibility of the molar conceptus with the mother may be an element of the process that prevent its early rejection.

In a cytogenetic study of 54 patients with acute monoblastic leukaemias (AML5) two had a (9;11) (p21;q23) translocation. In addition to the clone, with t(9;11), both patients had a second clone with t(9;11) and trisomy 8. These two patients were aged 23 and 35 years at diagnosis and were classified as M5a in the FAB formulation. A complete remission was achieved in each case, persisting after 19 and 18 months respectively (autograft for one patient). Whereas chromosome 11 anomalies are involved in 13% of all AML5 cases, t(9;11) is less frequently encountered (3.7% in our experience).

A rearrangement of the short arm of chromosome #12 with a breakpoint at band 12 was found in 4 out of 15 patients with CMML: two deletions, one simple translocation (9;12)(p21;p12) and one complex t(11;12;13)(p11;p12;q21). Their haematological and clinical characteristics were investigated together with those of 5 other similar published cases. Although this alteration is not very frequent in this myelodysplastic syndrome, and is also found in various other malignant blood disorders, it is clearly a non-random phenomenon, the consequences of which are discussed.

A total of 8% of chronic lymphocytic leukemias (CLL) occur in young people, before the fourth decade, and can be considered as a specific clinical form of CLL. We report 24 cases of young CLL treated since 1975. The clinical course has the same characteristics in young as in old people except for the high tumoral B stage which has a worse prognosis.

An anaplastic bronchial cancer was observed to occur simultaneously in identical twin brothers, with a rapidly fatal outcome. This led to authors to appraise the prevalence of such cases and to study the role of genetic factors in the determining bronchial cancer. A review of the literature has not revealed an identical case, on the other hand 4 twin pairs suffered from a bronchial cancer with a different histology (3 epidermoid and 1 bronchoalveolar) were reported. Familial cases of bronchial cancer were also recorded. The authors go on to allude to the intervention of genetic factors in the defense mechanisms of the lung: mucociliary clearance, immunological defense and the role of aryl hydrocarbon hydroxylase. The precise identification of these factors remains difficult on account of their interaction with environmental factors.

Two hundred cases of breast carcinoma were studied, with particular attention to adjacent non-malignant modifications considered by some authors as preneoplastic changes. Diverse proliferative lesions were recognized in 82% of cases. Atypical hyperplasia was present in 51.5% of cases and was more often ductal (83/200) than lobular (40/200). Microscopic cysts were noted in 72% of cases. Calcifications, easily identified by mammography were present in 20% of cases and were associated with atypical hyperplasia in 4/5 of cases. The mean of patients was 58 years. For comparative studies of histologic lesions the following age categories were evaluated: category I less than 50 years (57 patients), category II greater than or equal to 50 years (143 patients). Atypical lobular hyperplasia, adenosis, and, to a lesser degree, sclerosing adenosis and macroscopic cysts were more frequently associated with breast cancer in women younger than 50. Fibro-atrophic or lipomatous changes were more often found in the older group of women, as expected. Sclerosing adenosis was significantly more frequent in breasts with multifocal infiltrating carcinoma. Such changes must be considered as risk factors by pathologists when present in mammary specimens without carcinomatous lesions, and careful study should be undertaken to locate a possible in situ microscopic carcinoma. No differences appeared in lesions associated with breast cancer in women with or without a familial history of breast cancer.

Two cases of Burkitt cell leukaemia (ALL3) occurring 60 and 51 months respectively after treatment of Hodgkin's disease (HD) are described. Clinical, cytological, immunological and cytogenetic features in these patients were comparable with those of the 6 previously published cases and with de novo ALL3. The prognosis of these secondary ALL3 is uniformly poor: our 2 patients died 2 and 14 days after the start of combination chemotherapy, and all the other cases survived less than 60 days after diagnosis. The significance of ALL3 occurring after HD is discussed: the association is probably not fortuitous, and its pathogenic mechanisms probably differ from those intervening in secondary myeloid leukaemias.

Bone marrow karyotyping was serially performed in 23 Ph1+ chronic myelocytic leukemia patients treated with allogeneic bone marrow transplantation (BMT). Two patients underwent 2 BMT each. Fifteen patients had only normal karyotypes and 8 patients (after 10 BMT) had either sporadic Ph1+ metaphases (6 cases) or cytogenetic signs of relapse (4 cases, of which in 1 case, without hematological symptoms), or both in succession. Sporadic Ph1+ metaphases were found early after BMT (never after the 6th month). Although they were more frequent in non-splenectomized patients than in others, there was no significant correlation between sporadic Ph1+ metaphases and disease features, treatment regimens or evolution after BMT.