An infectious clone of the linear, unintegrated RadLV provirus was obtained by insertion in the plasmid pBR322. Its restriction map was indistinguishable from that of the majority of the multiple proviral copies, which are found apparently at random sites in the DNA of RadLV-induced rat thymic lymphomas.

Over a period of 23 years, 3 members of a family of 5 presented with 7 parathyroid adenomas (4 in the first case, 2 in the second case, 1 in the third case). Excision of each adenoma, with systematic pre-operative assessment of the remaining parathyroid tissue, led to complete clinical and laboratory cure of each episode. The delay in the appearance of recurrence was between 3 and 9 years. After reviewing the literature, the authors stress the importance, in any case of hyperparathyroidism, of routinely investigating the serum calcium levels in members of the patient's family, especially if the patient is young and if he has had several episodes or multiglandular involvement in one episode. The authors discuss the literature concerning recurrent familial hyperparathyroidism with endocrine polyadenomatosis and the "hypercalcaemia-hypocalciuria" syndrome.

That chromosomal abnormalities in leukaemias and lymphomas are not non-randomly distributed has been demonstrated by banding techniques. Abnormalities characteristic of a given type of proliferation are described. The chromosomal breakpoints corresponding to these changes are located close to the sequences encoding for cellular oncogens (c-onc), which justifies the growing interest in the cytogenetic study of malignant cells.

A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.

Two cancer-prone families are reported. In the first one four first-degree relatives over three generations presented a colonic carcinoma, three of them at a proximal anatomic site. For grandmother and father these occurred at ages of 43 and 54 years, respectively, for the son and the daughter at ages of 26 and 22. The grandmother underwent a palliative ileotransversostomy, surgery typically associated with a bad prognosis, but she survived for forty years that initial neoplasm and had an hysterectomy with oophorectomy at age of 63 for endometrial malignancy; she deceased at age of 83 a few days after surgical treatment of tumoral small bowel obstruction: pathological evaluation disclosed a fourth cancer on first duodenum. The second kindred shows over three generations 11 cancer-affected individuals, three of them with double primary cancer: breast and sigmoid, breast and endometrium, colon and Hodgkin disease. This pedigree includes 8 colorectal neoplasms occurring at 47 years of mean age. These findings are consistent with the cancer-family syndrome and hereditary non-polyposis colon cancer described by Henry Lynch upon four criteria: high frequency of adenocarcinoma, excess of multiple primary malignancies, synchronous or metachronous, early age of onset of cancer and autosomal dominant inheritance. Moreover the hereditary colon cancer is usually localised to the proximal colon, not associated to polyposis coli and allows a prolonged survival. Up to day such families are only identified by pedigree data. The identification of a cancer-prone family calls for an active follow-up of relatives putatively at risk starting at the age of 15 to 20.

Chromosome instability syndromes are defined by either an increase of chromosomal breakage or by an increase of sister chromatid exchange number, or by an increase of the two. Bloom's syndrome, Ataxia telangiectasia, Fanconi's Anemia are the main components of this group. The incidence of cancers or malignant blood diseases is high. The finding of DNA repair abnormalities in some of them and their high sensitivity to particular mutagenic agents make these syndromes an interesting model for oncogenesis.

The finding of a Philadelphia chromosome in a case of apparently primary thrombocythaemia should change the diagnosis for that of chronic myeloid leukaemia. This theoretical view is supported by the case reported here, where a Philadelphia-chromosome was detected in the bone marrow cells of a patient with severe thrombocythaemia; a typical myeloid leukaemia developed 21 months after the onset of the disease; survival was of short duration.

When compared to the general population, individuals with Gardner's syndrome may have a 100- to 200-fold increased risk of developing periampullary carcinoma. This prospective work was undertaken in order to study the endoscopic aspects and to perform biopsies of the papilla in 9 patients (7 males, 2 females, aged 18-65 years) with familial polyposis coli or Gardner syndrome. In 4 cases the papilla was endoscopically grossly polypoid and biopsies showed adenomatous lesions. In 5 cases, the papilla appeared endoscopically normal; in 2 cases, the papilla appeared endoscopically normal; in 2 of these cases biopsies showed adenomatous proliferation; in the 3 other cases, the biopsies were normal. In 5 cases, there were adenomatous duodenal lesions outside the papilla. These results suggest that: a) adenomatous lesions of the papilla are frequent in familial polyposis coli and Gardner's syndrome; b) the endoscopic gross aspect of the papilla may be normal even when there are adenomatous lesions; c) adenomatous lesions of the papilla may be associated or not with adenomatous lesions of the 2nd duodenum; d) as the natural history of these lesions is not known and because of the risk of cancer of Vater's ampulla, it seems reasonable to perform routine duodenoscopies with biopsies in order to ensure early diagnosis of cancer.

Chromosome anomalies, structural and/or numerical changes are present in about 50% of acute non lymphoïd leukemia (ANLL). They are non-random: chromosome 8, 7, 5 and 11 being more frequently involved. Correlations between chromosomal anomalies and type of proliferation have been established: translocation t (8;21) and acute myeloblastic leukemia M2; translocation t (15;17) and acute promyelocytic leukemia M3; structural anomalies of chromosome 11 long arm and acute monoblastic leukemia M5. A relationship between prognosis and leukemic karyotype has been found. Median survival is generally longer in patients with normal karyotypes. Future studies may correlate chromosome anomalies and metabolic changes with the help of progress in gene mapping. A better knowledge will provide not only a better therapy but also a better understanding of the leukemic process.

The genome of higher animals contains genes called cOnc which are thought to be responsible for cancer when activated. Many oncogenic retroviruses also contain vOnc genes responsible for their transforming properties. cOnc sequences are homologous and result, in fact, from genetic recombinations between retroviruses lacking transforming genes and the animal genome. Onc genes encode transforming proteins which are biological intermediates of their carcinogenic property and may consist of protein kinases active on membrane and cytoskeleton constituents or nuclear proteins probably active on DNA. Modifications of cOnc genes (or oncogenes) due, in particular, to chromosomal rearrangements and occasional mutations have been demonstrated in an increasing number of human cancers.

A review on the association between acute leukemias (AL) and constitutional chromosome abnormalities (CCA) is presented. AL, myeloblastic or lymphoblastic according to age are 18 to 20 times more frequent in Down Syndrome (DS) children than in non DS children. The incidence of acquired chromosome abnormalities is similar in leukemic cells of DS and non DS patients but the type of anomalies, in the leukemic myeloblastic cells of DS, are different : hyperdiploidy, excess of C, F and G. Gain of chromosomes 8, 19 and 22 would characterize leukemic myeloblasts in an early stage of differentiation. Recent data on transient leukemoid reactions show that a 21 in DS appears to be predisposing factor in the development of AL. Association between AL and other balanced or unbalanced CCA appears until now to be fortuitous.

The case of an eighty-one-year-old woman who had myeloma followed 18 months later by chronic myeloid leukemia with Philadelphia chromosome unrelated to therapeutic interferences is reported. This case is compared to other reports of lymphoid hemopathies associated with myeloid hemopathies found in the medical literature. The different etiopathogenic hypotheses are discussed, particularly in the light of recent studies of chromosomes. Such caryotypic studies in malignant hemopathies may improve our knowledge of the connexions between apparently dissimilar diseases and prove helpful for the understanding of cell differentiation from pathological data.

Cases of two newborns with acute lymphoblastic leukemia (ALL) L2 type, are reported. In each case, some chromosomal abnormalities can be found. In the first case, a translocation t (4;11) is noticed. It has to be compared with already published patients' cases and so the non randomly occuring character of those alterations in ALL and poor pronostic factor can be confirmed. In the second observation, a complex translocation t (5;6;X) never described before in literature, was observed. Chromosomal findings in ALL are not only a help to diagnosis but, by cytogenetic data, are also a help to accurate prognosis and adequate treatment.

The authors present 7 cases of preleukemic state and/or acute leukemia following the treatment of a first malignancy (3 malignant lymphomas, 3 epithelial cancers and one polycythemia vera). A preleukemic state was found in all patients. In 6 cases it was followed by an acute non-lymphoblastic leukemia which was rapidly fatal; in one case, death occurred during the preleukemic phase. A karyotype was prepared during the preleukemic phase in 6 out of 7 patients and in 4 out of 6 during the leukemia. Karyotypes prepared during the preleukemic state presented at least one of the abnormalities which are characteristic of secondary hematopoietic disorders: -5/5q; -7/7q; involvement of 17. The same major clone was found in 3 of the 6 patients who were karyotyped during the acute leukemic phase. These karyotype abnormalities are not only characteristic of secondary acute leukemias but also of secondary dysmyelopoietic syndromes.

Thirty-one cases of medullary carcinoma of the thyroid have been studied over the past fifteen years at the University Hospital of the Canton of Vaud, Switzerland (CHUV). Twenty cases were of sporadic nature and eleven presented as part of the familial MEN II syndrome (multiple endocrine neoplasia), one of which showed the classical features of the rare MEN IIb type. It is important to distinguish between the familial and sporadic cases, because membership of the former group implies the investigation of associated endocrinopathies (pheochromocytoma, hyperparathyreoidism) and study of the family tree as the syndrome is autosomal dominant. Medullary carcinoma of the thyroid is a constant feature of the MEN II syndrome and is the cause of premature death in these patients. The familial type should be suspected if the carcinoma appears early in life, is located in the superior pole of the thyroid or is bilateral or multicentric, if the histology shows hyperplasia of the C cells and, of course, if there is a history of surgery for pheochromocytoma or hyperparathyroidism. Although total thyroidecomy is the rule for these familial cases, its role is debatable in sporadic medullary carcinoma of the thyroid. Postoperative follow-up of these patients is based on serum calcitonin determination, as this is an extremely sensitive marker. The ten year survival rate is 50%, with the worst prognosis in MEN IIb type.